Jean-Pierre Fryns

Jean-Pierre Fryns

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Jean-Pierre Fryns

Jean-Pierre Fryns

Publications by authors named "Jean-Pierre Fryns"

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Authors:
Suzanna G M Frints Aysegul Ozanturk Germán Rodríguez Criado Ute Grasshoff Bas de Hoon Michael Field Sylvie Manouvrier-Hanu Scott E Hickey Molka Kammoun Karen W Gripp Claudia Bauer Christopher Schroeder Annick Toutain Theresa Mihalic Mosher Benjamin J Kelly Peter White Andreas Dufke Eveline Rentmeester Sungjin Moon Daniel C Koboldt Kees E P van Roozendaal Hao Hu Stefan A Haas Hans-Hilger Ropers Lucinda Murray Eric Haan Marie Shaw Renee Carroll Kathryn Friend Jan Liebelt Lynne Hobson Marjan De Rademaeker Joep Geraedts Jean-Pierre Fryns Joris Vermeesch Martine Raynaud Olaf Riess Joost Gribnau Nicholas Katsanis Koen Devriendt Peter Bauer Jozef Gecz Christelle Golzio Cristina Gontan Vera M Kalscheuer

Mol Psychiatry 2019 Nov 4;24(11):1748-1768. Epub 2018 May 4.

Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.

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http://dx.doi.org/10.1038/s41380-018-0065-xDOI Listing
November 2019

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

Authors:
Nele Cosemans Laura Vandenhove Jarymke Maljaars Hilde Van Esch Koenraad Devriendt Amanda Baldwin Jean-Pierre Fryns Ilse Noens Hilde Peeters

Eur J Med Genet 2018 Jul 7;61(7):376-383. Epub 2018 Feb 7.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; Leuven Autism Research (LAuRes), Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173063
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http://dx.doi.org/10.1016/j.ejmg.2018.02.002DOI Listing
July 2018

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Authors:
Karl Hackmann Andreas Rump Stefan A Haas Johannes R Lemke Jean-Pierre Fryns Andreas Tzschach Dagmar Wieczorek Beate Albrecht Alma Kuechler Tim Ripperger Albrecht Kobelt Konrad Oexle Sigrid Tinschert Evelin Schrock Vera M Kalscheuer Nataliya Di Donato

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Authors:
Alfredo Orrico Lucia Galli Jill Clayton-Smith Jean-Pierre Fryns

Eur J Hum Genet 2015 Apr 17;23(4). Epub 2014 Sep 17.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.178
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http://dx.doi.org/10.1038/ejhg.2014.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667502PMC
April 2015

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Authors:
Marijke Bauters Suzanna G Frints Hilde Van Esch Liesbeth Spruijt Marcella M Baldewijns Christine E M de Die-Smulders Jean-Pierre Fryns Peter Marynen Guy Froyen

Am J Med Genet A 2014 Aug 15;164A(8):1947-52. Epub 2014 Apr 15.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium; Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36580
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http://dx.doi.org/10.1002/ajmg.a.36580DOI Listing
August 2014

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

Authors:
Paul Daniel Brady Barbara Delle Chiaie Gabrielle Christenhusz Kris Dierickx Kris Van Den Bogaert Bjorn Menten Sandra Janssens Paul Defoort Ellen Roets Elke Sleurs Kathelijn Keymolen Luc De Catte Jan Deprest Thomy de Ravel Hilde Van Esch Jean Pierre Fryns Koenraad Devriendt Joris Robert Vermeesch

Genet Med 2014 Jun 31;16(6):469-76. Epub 2013 Oct 31.

Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/gim.2013.168DOI Listing
June 2014

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Authors:
Joke Vandewalle Marijke Bauters Hilde Van Esch Stefanie Belet Jelle Verbeeck Nathalie Fieremans Maureen Holvoet Jodie Vento Ana Spreiz Dieter Kotzot Edda Haberlandt Jill Rosenfeld Joris Andrieux Bruno Delobel Marie-Bertille Dehouck Koen Devriendt Jean-Pierre Fryns Peter Marynen Amy Goldstein Guy Froyen

Hum Genet 2013 Oct 20;132(10):1177-85. Epub 2013 Jun 20.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00439-013-1322-3DOI Listing
October 2013

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Authors:
Marjolijn Renard Bert Callewaert Machteld Baetens Laurence Campens Kay MacDermot Jean-Pierre Fryns Maryse Bonduelle Harry C Dietz Isabel Mendes Gaspar Diogo Cavaco Eva-Lena Stattin Constance Schrander-Stumpel Paul Coucke Bart Loeys Anne De Paepe Julie De Backer

Int J Cardiol 2013 May 19;165(2):314-21. Epub 2011 Sep 19.

Center for Medical Genetics, University Hospital of Ghent, Ghent, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S016752731100920
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http://dx.doi.org/10.1016/j.ijcard.2011.08.079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253210PMC
May 2013

Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles.

Authors:
Nicole Y P Souren Pavlo Lutsik Gilles Gasparoni Sascha Tierling Jasmin Gries Matthias Riemenschneider Jean-Pierre Fryns Catherine Derom Maurice P Zeegers Jörn Walter

Genome Biol 2013 May 26;14(5):R44. Epub 2013 May 26.

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http://dx.doi.org/10.1186/gb-2013-14-5-r44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054831PMC
May 2013

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.

Authors:
Caroline Robberecht Anne Pexsters Jan Deprest Jean-Pierre Fryns Thomas D'Hooghe Joris Robert Vermeesch

Prenat Diagn 2012 Oct 4;32(10):933-42. Epub 2012 Jul 4.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.3936DOI Listing
October 2012

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.

Authors:
Femke Hannes Peter Hammond Oliver Quarrell Jean-Pierre Fryns Koenraad Devriendt Joris R Vermeesch

Am J Med Genet A 2012 May 21;158A(5):996-1004. Epub 2012 Mar 21.

Center for Human Genetics, KU Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.35299
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http://dx.doi.org/10.1002/ajmg.a.35299DOI Listing
May 2012

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Authors:
Caroline Robberecht Thierry Voet Gülen E Utine Albert Schinzel Nicole de Leeuw Jean-Pierre Fryns Joris Vermeesch

Mol Cytogenet 2012 Apr 10;5:19. Epub 2012 Apr 10.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/1755-8166-5-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350457PMC
April 2012

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Authors:
Beata A Nowakowska Nicole de Leeuw Claudia Al Ruivenkamp Birgit Sikkema-Raddatz John A Crolla Reinhilde Thoelen Marije Koopmans Nicolette den Hollander Arie van Haeringen Anne-Marie van der Kevie-Kersemaekers Rolph Pfundt Hanneke Mieloo Ton van Essen Bert B A de Vries Andrew Green Willie Reardon Jean-Pierre Fryns Joris R Vermeesch

Eur J Hum Genet 2012 Feb 14;20(2):166-70. Epub 2011 Sep 14.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2011.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260932PMC
February 2012

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Authors:
Jean-Baptiste Rivière Bregje W M van Bon Alexander Hoischen Stanislav S Kholmanskikh Brian J O'Roak Christian Gilissen Sabine Gijsen Christopher T Sullivan Susan L Christian Omar A Abdul-Rahman Joan F Atkin Nicolas Chassaing Valerie Drouin-Garraud Andrew E Fry Jean-Pierre Fryns Karen W Gripp Marlies Kempers Tjitske Kleefstra Grazia M S Mancini Małgorzata J M Nowaczyk Conny M A van Ravenswaaij-Arts Tony Roscioli Michael Marble Jill A Rosenfeld Victoria M Siu Bert B A de Vries Jay Shendure Alain Verloes Joris A Veltman Han G Brunner M Elizabeth Ross Daniela T Pilz William B Dobyns

Nat Genet 2012 Feb 26;44(4):440-4, S1-2. Epub 2012 Feb 26.

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.1091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677859PMC
February 2012

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Authors:
Jeroen K J Van Houdt Beata Anna Nowakowska Sérgio B Sousa Barbera D C van Schaik Eve Seuntjens Nelson Avonce Alejandro Sifrim Omar A Abdul-Rahman Marie-José H van den Boogaard Armand Bottani Marco Castori Valérie Cormier-Daire Matthew A Deardorff Isabel Filges Alan Fryer Jean-Pierre Fryns Simone Gana Livia Garavelli Gabriele Gillessen-Kaesbach Bryan D Hall Denise Horn Danny Huylebroeck Jakub Klapecki Malgorzata Krajewska-Walasek Alma Kuechler Matthew A Lines Saskia Maas Kay D Macdermot Shane McKee Alex Magee Stella A de Man Yves Moreau Fanny Morice-Picard Ewa Obersztyn Jacek Pilch Elizabeth Rosser Nora Shannon Irene Stolte-Dijkstra Patrick Van Dijck Catheline Vilain Annick Vogels Emma Wakeling Dagmar Wieczorek Louise Wilson Orsetta Zuffardi Antoine H C van Kampen Koenraad Devriendt Raoul Hennekam Joris Robert Vermeesch

Nat Genet 2012 Feb 26;44(4):445-9, S1. Epub 2012 Feb 26.

Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1038/ng.1105DOI Listing
February 2012

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

Authors:
Julie Vogt Neil V Morgan Pauline Rehal Laurence Faivre Louise A Brueton Kristin Becker Jean-Pierre Fryns Sue Holder Lily Islam Emma Kivuva Sally Ann Lynch Renaud Touraine Louise C Wilson Fiona MacDonald Eamonn R Maher

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

The causality of de novo copy number variants is overestimated.

Authors:
Joris R Vermeesch Irina Balikova Connie Schrander-Stumpel Jean-Pierre Fryns Koenraad Devriendt

Eur J Hum Genet 2011 Nov 18;19(11):1112-3. Epub 2011 May 18.

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http://dx.doi.org/10.1038/ejhg.2011.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198146PMC
November 2011

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Authors:
Alfredo Orrico Lucia Galli Jill Clayton-Smith Jean-Pierre Fryns

Eur J Hum Genet 2011 Nov 8;19(11). Epub 2011 Jun 8.

Dipartimento dei Servizi, Medicina Molecolare, Azienda Ospedaliera Universitaria Senese, Policlinico S. Maria alle Scotte, Viale Bracci 2,Siena,

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http://dx.doi.org/10.1038/ejhg.2011.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198140PMC
November 2011

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Authors:
Jacek Majewski Jeremy A Schwartzentruber Aurore Caqueret Lysanne Patry Janet Marcadier Jean-Pierre Fryns Kym M Boycott Louis-Georges Ste-Marie Fergus E McKiernan Ivo Marik Hilde Van Esch Jacques L Michaud Mark E Samuels

Hum Mutat 2011 Oct 9;32(10):1114-7. Epub 2011 Sep 9.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Canada.

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http://dx.doi.org/10.1002/humu.21546DOI Listing
October 2011

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

Authors:
Piotr S Iwanowski Barbara Panasiuk Griet Van Buggenhout Marina Murdolo Marta Myśliwiec Nicole M C Maas Serena Lattante Lech Korniszewski Renata Posmyk Jacek Pilch Stanislaw Zajączek Jean-Pierre Fryns Marcella Zollino Alina T Midro

Am J Med Genet A 2011 Aug 8;155A(8):1833-47. Epub 2011 Jul 8.

Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland.

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http://dx.doi.org/10.1002/ajmg.a.34005DOI Listing
August 2011

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors:
Nicole M C Maas Tom Van de Putte Cindy Melotte Annick Francis Constance T R M Schrander-Stumpel Damien Sanlaville David Genevieve Stanislas Lyonnet Boyan Dimitrov Koenraad Devriendt Jean-Pierre Fryns Joris R Vermeesch

BMJ Case Rep 2009 30;2009. Epub 2009 Jun 30.

Centre for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/bcr.06.2009.1994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029272PMC
July 2011

DNA methylation variability at growth-related imprints does not contribute to overweight in monozygotic twins discordant for BMI.

Authors:
Nicole Y P Souren Sascha Tierling Jean-Pierre Fryns Catherine Derom Jörn Walter Maurice P Zeegers

Obesity (Silver Spring) 2011 Jul 27;19(7):1519-22. Epub 2011 Jan 27.

Department of Complex Genetics, Cluster of Genetics and Cell Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://doi.wiley.com/10.1038/oby.2010.353
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http://dx.doi.org/10.1038/oby.2010.353DOI Listing
July 2011

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos.

Authors:
Thierry Voet Evelyne Vanneste Niels Van der Aa Cindy Melotte Sigrun Jackmaert Tamara Vandendael Matthias Declercq Sophie Debrock Jean-Pierre Fryns Yves Moreau Thomas D'Hooghe Joris R Vermeesch

Hum Mutat 2011 Jul;32(7):783-93

Center for Human Genetics, KULeuven-UZ Gasthuisberg, Herestraat 49, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21502DOI Listing
July 2011

Recent developments in the genetic factors underlying congenital diaphragmatic hernia.

Authors:
Paul D Brady Kasemsri Srisupundit Koenraad Devriendt Jean-Pierre Fryns Jan A Deprest Joris R Vermeesch

Fetal Diagn Ther 2011 11;29(1):25-39. Epub 2010 Dec 11.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000322422DOI Listing
June 2011

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Authors:
Irina Balikova Thomy de Ravel Carmen Ayuso Bernard Thienpont Ingele Casteels Cristina Villaverde Koenraad Devriendt Jean-Pierre Fryns Joris Robert Vermeesch

Am J Ophthalmol 2011 Jun 25;151(6):1087-1094.e45. Epub 2011 Feb 25.

Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ajo.2010.11.025DOI Listing
June 2011

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Authors:
Anne M Slavotinek Sergio E Baranzini Denny Schanze Cassandre Labelle-Dumais Kieran M Short Ryan Chao Mani Yahyavi Emilia K Bijlsma Catherine Chu Stacey Musone Ashleigh Wheatley Pui-Yan Kwok Sandra Marles Jean-Pierre Fryns A Murat Maga Mohamed G Hassan Douglas B Gould Lohith Madireddy Chumei Li Timothy C Cox Ian Smyth Albert E Chudley Martin Zenker

J Med Genet 2011 Jun 20;48(6):375-82. Epub 2011 Apr 20.

Department of Pediatrics, Division of Genetics, University of California, 533 Parnassus Street, Room U585P, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1136/jmg.2011.089631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294942PMC
June 2011

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.

Authors:
Edith Said Alfred Cuschieri Joris Vermeesch Jean Pierre Fryns

Am J Med Genet A 2011 Jun 12;155A(6):1390-2. Epub 2011 May 12.

Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.

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http://dx.doi.org/10.1002/ajmg.a.33961DOI Listing
June 2011

Observations on intelligence and behavior in 15 patients with Legius syndrome.

Authors:
Ellen Denayer Mie-Jef Descheemaeker Douglas R Stewart Kathelijn Keymolen Ellen Plasschaert Sarah L Ruppert Joseph Snow Audrey E Thurm Lisa A Joseph Jean-Pierre Fryns Eric Legius

Am J Med Genet C Semin Med Genet 2011 May 14;157C(2):123-8. Epub 2011 Apr 14.

Center of Human Genetics from the Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.c.30297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081633PMC
May 2011

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

Authors:
An Crepel Jean Steyaert Wouter De la Marche Veerle De Wolf Jean-Pierre Fryns Ilse Noens Koen Devriendt Hilde Peeters

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 11;156(2):243-5. Epub 2011 Jan 11.

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http://dx.doi.org/10.1002/ajmg.b.31163DOI Listing
March 2011

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

Authors:
Boyan Dimitrov Irina Balikova Thomy de Ravel Hilde Van Esch Maryse De Smedt Emiel Baten Joris Robert Vermeesch Irena Bradinova Emil Simeonov Koen Devriendt Jean-Pierre Fryns Philippe Debeer

J Med Genet 2011 Feb 10;48(2):98-104. Epub 2010 Nov 10.

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmg.2010.079491DOI Listing
February 2011

Pericardial effusion in the first trimester of pregnancy.

Authors:
Ingrid Witters Derize Boshoff Luc De Catte Tinne Mesens Wilfried Gyselaers Claire Theyskens Els Bruneel Marc Gewillig Jean-Pierre Fryns

Prenat Diagn 2011 Feb 4;31(2):215-7. Epub 2011 Jan 4.

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http://dx.doi.org/10.1002/pd.2667DOI Listing
February 2011

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Authors:
Aimée D C Paulussen Alexander P A Stegmann Marinus J Blok Demis Tserpelis Crool Posma-Velter Yvonne Detisch Eric E J G L Smeets Annemieke Wagemans Jaap J P Schrander Marie-José H van den Boogaard Jasper van der Smagt Arie van Haeringen Irene Stolte-Dijkstra Wilhelmina S Kerstjens-Frederikse Grazia M Mancini Marja W Wessels Raoul C M Hennekam Maaike Vreeburg Joep Geraedts Thomy de Ravel Jean-Pierre Fryns Hubert J Smeets Koenraad Devriendt Constance T R M Schrander-Stumpel

Hum Mutat 2011 Feb 7;32(2):E2018-25. Epub 2010 Dec 7.

Department of Clinical Genetics, Maastricht UMC+, Maastricht, the Netherlands.

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http://dx.doi.org/10.1002/humu.21416DOI Listing
February 2011

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Authors:
Femke Hannes Jeroen Van Houdt Oliver W Quarrell Martin Poot Ron Hochstenbach Jean-Pierre Fryns Joris R Vermeesch

Hum Mutat 2010 Dec 16;31(12):1343-51. Epub 2010 Nov 16.

Centre for Human Genetics, University Hospital, Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21368DOI Listing
December 2010

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).

Authors:
Kasemsri Srisupundit Paul D Brady Koenraad Devriendt Jean-Pierre Fryns Rogelio Cruz-Martinez Eduard Gratacos Jan A Deprest Joris R Vermeesch

Prenat Diagn 2010 Dec;30(12-13):1198-206

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.2651DOI Listing
December 2010

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.

Authors:
Boyan Ivanov Dimitrov Thierry Voet Luc De Smet Joris Robert Vermeesch Koen Devriendt Jean-Pierre Fryns Philippe Debeer

J Med Genet 2010 Aug 7;47(8):569-74. Epub 2010 Jul 7.

Centre of Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven 3000, Belgium.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2009.073833
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http://dx.doi.org/10.1136/jmg.2009.073833DOI Listing
August 2010

Piecing together the problems in diagnosing low-level chromosomal mosaicism.

Authors:
Caroline Robberecht Jean-Pierre Fryns Joris Robert Vermeesch

Genome Med 2010 Jul 29;2(7):47. Epub 2010 Jul 29.

Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/gm168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923739PMC
July 2010

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

Authors:
Barbara D'haene Jan Hellemans Margarita Craen Jean De Schepper Koen Devriendt Jean-Pierre Fryns Kathelijn Keymolen Eveline Debals Annelies de Klein Elisabeth M de Jong Karin Segers Anne De Paepe Geert Mortier Jo Vandesompele Elfride De Baere

J Clin Endocrinol Metab 2010 Jun 7;95(6):3010-8. Epub 2010 Apr 7.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1210/jc.2009-2218DOI Listing
June 2010

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

Authors:
Ginevra Zanni Hilde van Esch Anissa Bensalem Yoann Saillour Karine Poirier Laetitia Castelnau Hans Hilger Ropers Arjan P M de Brouwer Fréderic Laumonnier Jean-Pierre Fryns Jamel Chelly

Neurogenetics 2010 May 1;11(2):251-5. Epub 2009 Oct 1.

Institut Cochin, Université Paris Descartes, INSERM, CNRS UMR 8104, CHU Cochin, Paris, France.

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http://link.springer.com/content/pdf/10.1007/s10048-009-0224
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http://link.springer.com/10.1007/s10048-009-0224-y
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http://dx.doi.org/10.1007/s10048-009-0224-yDOI Listing
May 2010

Comment on 'genetic considerations in the prenatal diagnosis of overgrowth syndromes', by Vora and Bianchi.

Authors:
Ingrid Witters Jean-Pierre Fryns

Prenat Diagn 2010 May;30(5):492

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http://dx.doi.org/10.1002/pd.2448DOI Listing
May 2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Authors:
Bernard Thienpont Frédérique Béna Jeroen Breckpot Nicole Philip Björn Menten Hilde Van Esch Emmanuel Scalais Jessica M Salamone Chin-To Fong Jennifer L Kussmann Dorothy K Grange Jerome L Gorski Farah Zahir Siu Li Yong Michael M Morris Stefania Gimelli Jean-Pierre Fryns Geert Mortier Jan M Friedman Laurent Villard Armand Bottani Joris R Vermeesch Sau Wai Cheung Koen Devriendt

J Med Genet 2010 Mar 14;47(3):155-61. Epub 2009 Oct 14.

Center for Human Genetics, K.U. Leuven, Herestraat 49 box 602, Leuven 3000, Belgium.

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http://dx.doi.org/10.1136/jmg.2009.070573DOI Listing
March 2010

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Authors:
Ellen Denayer Koen Devriendt Thomy de Ravel Griet Van Buggenhout Eric Smeets Inge Francois Yves Sznajer Margarita Craen George Leventopoulos Léon Mutesa Willy Vandecasseye Guy Massa Hulya Kayserili Raf Sciot Jean-Pierre Fryns Eric Legius

Genes Chromosomes Cancer 2010 Mar;49(3):242-52

Department of Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/gcc.20735DOI Listing
March 2010

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Authors:
Liesbeth Backx Jean-Pierre Fryns Carlo Marcelis Koen Devriendt Joris Vermeesch Hilde Van Esch

Am J Med Genet A 2010 Feb;152A(2):319-26

Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33202DOI Listing
February 2010

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Authors:
Lars R Jensen Heinz Bartenschlager Sinitdhorn Rujirabanjerd Andreas Tzschach Astrid Nümann Andreas R Janecke Ralf Spörle Sigmar Stricker Martine Raynaud John Nelson Anna Hackett Jean-Pierre Fryns Jamel Chelly Arjan Pm de Brouwer Ben Hamel Jozef Gecz Hans-Hilger Ropers Andreas W Kuss

Pathogenetics 2010 Feb 2;3(1). Epub 2010 Feb 2.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1186/1755-8417-3-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830949PMC
February 2010

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Authors:
Joke Vandewalle Hilde Van Esch Karen Govaerts Jelle Verbeeck Christiane Zweier Irene Madrigal Montserrat Mila Elly Pijkels Isabel Fernandez Jürgen Kohlhase Christiane Spaich Anita Rauch Jean-Pierre Fryns Peter Marynen Guy Froyen

Am J Hum Genet 2009 Dec;85(6):809-22

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B-3000 Leuven, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970900474
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http://dx.doi.org/10.1016/j.ajhg.2009.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790561PMC
December 2009

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Authors:
Irina Balikova Joris Robert Vermeesch Jean-Pierre Fryns Hilde Van Esch

Eur J Med Genet 2009 Jul-Aug;52(4):260-1. Epub 2009 Jan 14.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.001DOI Listing
November 2009

Angelman syndrome (AS, MIM 105830).

Authors:
Griet Van Buggenhout Jean-Pierre Fryns

Eur J Hum Genet 2009 Nov 20;17(11):1367-73. Epub 2009 May 20.

Centre for Human Genetics, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2009.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986680PMC
November 2009

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.

Authors:
Evelyne Vanneste Thierry Voet Cindy Melotte Sophie Debrock Karen Sermon Catherine Staessen Inge Liebaers Jean-Pierre Fryns Thomas D'Hooghe Joris R Vermeesch

Hum Reprod 2009 Nov 24;24(11):2679-82. Epub 2009 Jul 24.

Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1093/humrep/dep266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763130PMC
November 2009

Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.

Authors:
Ingrid Witters Jean-Pierre Fryns Luc De Catte Philippe Moerman

Prenat Diagn 2009 Nov;29(11):1081-4

Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.2349DOI Listing
November 2009

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

Authors:
Jeroen Breckpot Bernard Thienpont Christine Vanhole Els Van Rossem Dominique Van Schoubroeck Jean-Pierre Fryns Lieven Lagae Gunnar Buyse Koen Devriendt

Clin Dysmorphol 2009 Oct;18(4):195-200

Center for Human Genetics, Department of Pediatric Neurology, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1097/MCD.0b013e32832d06d7DOI Listing
October 2009

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Authors:
Hilde Van Esch Liesbeth Backx Elly Pijkels Jean-Pierre Fryns

Eur J Med Genet 2009 Mar-Jun;52(2-3):153-6. Epub 2009 Feb 21.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.003DOI Listing
September 2009

Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.

Authors:
Caroline Robberecht Vicky Schuddinck Jean-Pierre Fryns Joris Robert Vermeesch

Genet Med 2009 Sep;11(9):646-54

Center for Human Genetics, University Hospital Gasthuisberg, Leuven 3000, Belgium.

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http://dx.doi.org/10.1097/GIM.0b013e3181abc92aDOI Listing
September 2009

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Authors:
Ellen Denayer Hilde Brems Paul de Cock Gareth D Evans Frank Van Calenbergh Naomi Bowers Raf Sciot Maria Debiec-Rychter Joris V Vermeesch Jean-Pierre Fryns Eric Legius

BMC Med Genet 2009 Sep 22;10:97. Epub 2009 Sep 22.

Department of human genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1186/1471-2350-10-97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758865PMC
September 2009

Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis.

Authors:
Ingrid Witters Elyes Chabchoub Joris R Vermeesch Jean-Pierre Fryns

Am J Med Genet A 2009 Aug;149A(8):1834-6

Center for Human Genetics, University of Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32978DOI Listing
August 2009

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Authors:
Martina Zivná Helena Hůlková Marie Matignon Katerina Hodanová Petr Vylet'al Marie Kalbácová Veronika Baresová Jakub Sikora Hana Blazková Jan Zivný Robert Ivánek Viktor Stránecký Jana Sovová Kathleen Claes Evelyne Lerut Jean-Pierre Fryns P Suzanne Hart Thomas C Hart Jeremy N Adams Audrey Pawtowski Maud Clemessy Jean-Marie Gasc Marie-Claire Gübler Corinne Antignac Milan Elleder Katja Kapp Philippe Grimbert Anthony J Bleyer Stanislav Kmoch

Am J Hum Genet 2009 Aug 6;85(2):204-13. Epub 2009 Aug 6.

Center for Applied Genomics, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ajhg.2009.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725269PMC
August 2009

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

Authors:
Thomy de Ravel Irina Balikova Jozef Van Driessche Joris Vermeesch Jean-Pierre Fryns

Am J Med Genet A 2009 Jun;149A(6):1315-6

Centre for Human Genetics, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32817DOI Listing
June 2009

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Authors:
Maria Kirchhoff Anne-Marie Bisgaard Radka Stoeva Boyan Dimitrov Gabriele Gillessen-Kaesbach Jean-Pierre Fryns Hanne Rose Liliana Grozdanova Ivan Ivanov Kathelijn Keymolen Christina Fagerberg Lisbeth Tranebjaerg Flemming Skovby Margarita Stefanova

Am J Med Genet A 2009 May;149A(5):894-905

Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32814DOI Listing
May 2009

Chromosome instability is common in human cleavage-stage embryos.

Authors:
Evelyne Vanneste Thierry Voet Cédric Le Caignec Michèle Ampe Peter Konings Cindy Melotte Sophie Debrock Mustapha Amyere Miikka Vikkula Frans Schuit Jean-Pierre Fryns Geert Verbeke Thomas D'Hooghe Yves Moreau Joris R Vermeesch

Nat Med 2009 May 26;15(5):577-83. Epub 2009 Apr 26.

Center for Human Genetics, K.U.Leuven, Belgium.

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http://dx.doi.org/10.1038/nm.1924DOI Listing
May 2009

Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.

Authors:
Radka E Stoeva Liliana I Grozdanova Joris R Vermeesch Maria Kirchhoff Jean-Pierre Fryns Ivan S Ivanov Iliana H Patcheva Boyan I Dimitrov Tsanyu B Krastev Alexander J Linev Margarita T Stefanova

Folia Med (Plovdiv) 2008 Oct-Dec;50(4):55-62

Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Bulgaria.

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March 2009

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

Authors:
Isabelle Bailleul-Forestier Ariane Berdal Frans Vinckier Thomy de Ravel Jean Pierre Fryns Alain Verloes

Eur J Med Genet 2008 Sep-Oct;51(5):383-408. Epub 2008 May 23.

Paediatric Dentistry Department, Paris 7 University; AP-HP, Hôtel-Dieu, Garancière, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.05.003DOI Listing
November 2008

Follow-up of a child with trisomy 17 mosaicism.

Authors:
Ingrid Witters Jean-Pierre Fryns

Prenat Diagn 2008 Nov;28(11):1080

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http://dx.doi.org/10.1002/pd.2090DOI Listing
November 2008

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Authors:
Eda G Utine Yasemin Alanay Dilek Aktas Mehmet Alikasifoglu Koray Boduroglu Joris Vermeesch Ergul Tuncbilek Jean-Pierre Fryns

Eur J Med Genet 2008 Jul-Aug;51(4):343-50. Epub 2008 Mar 27.

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2008.03.002DOI Listing
October 2008

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Authors:
Suzanna Gerarda Maria Frints Steffen Lenzner Mareike Bauters Lars Riff Jensen Hilde Van Esch Vincent des Portes Ute Moog Merryn Victor Erik Macville Kees van Roozendaal Constance Theresia Rimbertha Maria Schrander-Stumpel Andreas Tzschach Peter Marynen Jean-Pierre Fryns Ben Hamel Hans van Bokhoven Jamel Chelly Chérif Beldjord Gillian Turner Jozef Gecz Claude Moraine Martine Raynaud Hans Hilger Ropers Guy Froyen Andreas Walter Kuss

Eur J Hum Genet 2008 Sep 9;16(9):1029-37. Epub 2008 Apr 9.

Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.66DOI Listing
September 2008

Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome.

Authors:
Annelies Vermeiren Andrzej Zarowski Jean-Pierre Fryns Filiep Vanpoucke Thomas Somers Erwin Offeciers

Acta Otolaryngol 2008 Jul;128(7):814-20

University ENT Department, St Augustinus Hospital, Wilrijk, Belgium.

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http://dx.doi.org/10.1080/00016480701714277DOI Listing
July 2008

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Authors:
Marijke Bauters Hilde Van Esch Michael J Friez Odile Boespflug-Tanguy Martin Zenker Angela M Vianna-Morgante Carla Rosenberg Jaakko Ignatius Martine Raynaud Karen Hollanders Karen Govaerts Kris Vandenreijt Florence Niel Pierre Blanc Roger E Stevenson Jean-Pierre Fryns Peter Marynen Charles E Schwartz Guy Froyen

Genome Res 2008 Jun 2;18(6):847-58. Epub 2008 Apr 2.

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1101/gr.075903.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413152PMC
June 2008

Trisomy 18 presenting with severe limb deformations.

Authors:
Ingrid Witters Jean-Pierre Fryns

Prenat Diagn 2008 Jun;28(6):549-50

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http://dx.doi.org/10.1002/pd.2004DOI Listing
June 2008

First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele.

Authors:
An Hindryckx Luc De Catte Hilde Van Esch Jean-Pierre Fryns Philippe Moerman Roland Devlieger

Prenat Diagn 2008 May;28(5):445-6

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http://doi.wiley.com/10.1002/pd.1989
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http://dx.doi.org/10.1002/pd.1989DOI Listing
May 2008

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Authors:
Guy Froyen Mark Corbett Joke Vandewalle Irma Jarvela Owen Lawrence Cliff Meldrum Marijke Bauters Karen Govaerts Lucianne Vandeleur Hilde Van Esch Jamel Chelly Damien Sanlaville Hans van Bokhoven Hans-Hilger Ropers Frederic Laumonnier Enzo Ranieri Charles E Schwartz Fatima Abidi Patrick S Tarpey P Andrew Futreal Annabel Whibley F Lucy Raymond Michael R Stratton Jean-Pierre Fryns Rodney Scott Maarit Peippo Marjatta Sipponen Michael Partington David Mowat Michael Field Anna Hackett Peter Marynen Gillian Turner Jozef Gécz

Am J Hum Genet 2008 Feb 24;82(2):432-43. Epub 2008 Jan 24.

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B-3000 Leuven, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970700036
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http://dx.doi.org/10.1016/j.ajhg.2007.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426915PMC
February 2008

The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.

Authors:
Isabelle Bailleul-Forestier Veroniek Verhaeghe Jean-Pierre Fryns Frans Vinckier Dominique Declerck Annick Vogels

Int J Paediatr Dent 2008 Jan;18(1):40-7

Paediatric Dentistry, Garancière Hotel-Dieu Hospital, AP-HP France.

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http://dx.doi.org/10.1111/j.1365-263X.2007.00857.xDOI Listing
January 2008

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Authors:
Irina Balikova Kevin Martens Cindy Melotte Mustapha Amyere Steven Van Vooren Yves Moreau David Vetrie Heike Fiegler Nigel P Carter Thomas Liehr Miikka Vikkula Gert Matthijs Jean-Pierre Fryns Ingele Casteels Koen Devriendt Joris Robert Vermeesch

Am J Hum Genet 2008 Jan;82(1):181-7

Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ajhg.2007.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253954PMC
January 2008

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Authors:
Bernard Thienpont Luc Mertens Thomy de Ravel Benedicte Eyskens Derize Boshoff Nicole Maas Jean-Pierre Fryns Marc Gewillig Joris R Vermeesch Koen Devriendt

Eur Heart J 2007 Nov 23;28(22):2778-84. Epub 2007 Mar 23.

Center for Human Genetics, Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1093/eurheartj/ehl560DOI Listing
November 2007

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Authors:
Karine Poirier David A Keays Fiona Francis Yoann Saillour Nadia Bahi Sylvie Manouvrier Catherine Fallet-Bianco Laurent Pasquier Annick Toutain Françoise Phan Dinh Tuy Thierry Bienvenu Sylvie Joriot Sylvie Odent Dorothée Ville Isabelle Desguerre Alice Goldenberg Marie-Laure Moutard Jean-Pierre Fryns Hilde van Esch Robert J Harvey Christian Siebold Jonathan Flint Chérif Beldjord Jamel Chelly

Hum Mutat 2007 Nov;28(11):1055-64

Institut Cochin, Université Paris Descartes, Centre national de la recherche scientifique Unité Mixte de Recherche 8104, Paris, France.

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http://dx.doi.org/10.1002/humu.20572DOI Listing
November 2007

Subtelomeric imbalances in phenotypically normal individuals.

Authors:
Irina Balikova Björn Menten Thomy de Ravel Cédric Le Caignec Bernard Thienpont Montse Urbina Martine Doco-Fenzy Marjan de Rademaeker Geert Mortier Frank Kooy Janneke van den Ende Koen Devriendt Jean-Pierre Fryns Frank Speleman Joris Robert Vermeesch

Hum Mutat 2007 Oct;28(10):958-67

Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.20537DOI Listing
October 2007

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

Authors:
Guy Froyen Hilde Van Esch Marijke Bauters Karen Hollanders Suzanna G M Frints Joris R Vermeesch Koen Devriendt Jean-Pierre Fryns Peter Marynen

Hum Mutat 2007 Oct;28(10):1034-42

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium.

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http://doi.wiley.com/10.1002/humu.20564
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http://dx.doi.org/10.1002/humu.20564DOI Listing
October 2007

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Authors:
Bernard Thienpont Thomy de Ravel Hilde Van Esch Dominique Van Schoubroeck Philippe Moerman Joris Robert Vermeesch Jean-Pierre Fryns Guy Froyen Caroline Lacoste Catherine Badens Koen Devriendt

Eur J Hum Genet 2007 Oct 20;15(10):1094-7. Epub 2007 Jun 20.

Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201878DOI Listing
October 2007

Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8.

Authors:
Sophie Vanhaesebrouck David Van Laere Jean-Pierre Fryns Claire Theyskens

Am J Med Genet A 2007 Oct;143A(20):2469-72

Neonatal Intensive Care, Ziekenhuis Oost Limburg, Genk, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31942DOI Listing
October 2007

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors:
Nicole M C Maas Tom Van de Putte Cindy Melotte Annick Francis Constance T R M Schrander-Stumpel Damien Sanlaville David Genevieve Stanislas Lyonnet Boyan Dimitrov Koenraad Devriendt Jean-Pierre Fryns Joris R Vermeesch

J Med Genet 2007 Sep 23;44(9):562-9. Epub 2007 Jun 23.

Centre for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmg.2007.049510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597955PMC
September 2007

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Authors:
Hilde Brems Magdalena Chmara Mourad Sahbatou Ellen Denayer Koji Taniguchi Reiko Kato Riet Somers Ludwine Messiaen Sofie De Schepper Jean-Pierre Fryns Jan Cools Peter Marynen Gilles Thomas Akihiko Yoshimura Eric Legius

Nat Genet 2007 Sep 19;39(9):1120-6. Epub 2007 Aug 19.

Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.

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http://www.nature.com/doifinder/10.1038/ng2113
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September 2007

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

Authors:
Thomy J L de Ravel Koen Devriendt Jean-Pierre Fryns Joris R Vermeesch

Eur J Pediatr 2007 Jul 20;166(7):637-43. Epub 2007 Mar 20.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1007/s00431-007-0463-6DOI Listing
July 2007

Prenatal diagnosis of trisomy 17 mosaicism.

Authors:
Ingrid Witters Mieke Cannie Jean-Pierre Fryns

Prenat Diagn 2007 Jul;27(7):677-8

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http://dx.doi.org/10.1002/pd.1749DOI Listing
July 2007

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Authors:
Philippe Debeer Koen Devriendt Luc De Smet Thomy Deravel Antonio Gonzalez-Meneses Karl-Heinz Grzeschik Jean-Pierre Fryns

J Child Orthop 2007 Jul 10;1(2):143-50. Epub 2007 May 10.

Division of Orthopaedics, Department of Musculoskeletal Science, University Hospital Pellenberg, Weligerveld 1, 3212, Pellenberg, Belgium,

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http://dx.doi.org/10.1007/s11832-007-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656707PMC
July 2007

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

Authors:
Guy Froyen Marijke Bauters Jackie Boyle Hilde Van Esch Karen Govaerts Hans van Bokhoven Hans-Hilger Ropers Claude Moraine Jamel Chelly Jean-Pierre Fryns Peter Marynen Jozef Gecz Gillian Turner

Hum Genet 2007 Jun 28;121(5):539-47. Epub 2007 Feb 28.

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00439-007-0343-1DOI Listing
June 2007

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

Authors:
Elyes Chabchoub Laura Rodríguez Enrique Galán Elena Mansilla Maria Luisa Martínez-Fernandez Maria Luisa Martínez-Frías Jean-Pierre Fryns Joris Robert Vermeesch

J Med Genet 2007 Apr 15;44(4):250-6. Epub 2006 Dec 15.

Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2006.045476
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http://dx.doi.org/10.1136/jmg.2006.045476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598050PMC
April 2007

The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation.

Authors:
Marleen Decruyenaere Gerry Evers-Kiebooms Andrea Boogaerts Kristien Philippe Koen Demyttenaere René Dom Wim Vandenberghe Jean-Pierre Fryns

Eur J Hum Genet 2007 Apr 24;15(4):453-62. Epub 2007 Jan 24.

Psychosocial Genetics Unit, University of Leuven, Herestraat, Leuven, Belgium.

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http://www.nature.com/articles/5201774
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http://dx.doi.org/10.1038/sj.ejhg.5201774DOI Listing
April 2007

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

Authors:
Dries Castermans Joris R Vermeesch Jean-Pierre Fryns Jean G Steyaert Wim J M Van de Ven John W M Creemers Koen Devriendt

Eur J Hum Genet 2007 Apr 7;15(4):422-31. Epub 2007 Feb 7.

Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201785DOI Listing
April 2007

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.

Authors:
Wei Chen Lars R Jensen Jozef Gecz Jean-Pierre Fryns Claude Moraine Arjan de Brouwer Jamel Chelly Bettina Moser H Hilger Ropers Andreas W Kuss

Eur J Hum Genet 2007 Mar 20;15(3):375-8. Epub 2006 Dec 20.

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://www.nature.com/articles/5201758
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http://dx.doi.org/10.1038/sj.ejhg.5201758DOI Listing
March 2007

Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).

Authors:
Katrijn Van Aken Bert De Smedt Annelies Van Roie Marc Gewillig Koen Devriendt Jean-Pierre Fryns Johan Simons Ann Swillen

Dev Med Child Neurol 2007 Mar;49(3):210-3

Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/j.1469-8749.2007.00210.xDOI Listing
March 2007

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:
Louise S Bicknell Claire Farrington-Rock Yousef Shafeghati Patrick Rump Yasemin Alanay Yves Alembik Navid Al-Madani Helen Firth Mohammad Hassan Karimi-Nejad Chong Ae Kim Kathryn Leask Melissa Maisenbacher Ellen Moran John G Pappas Paolo Prontera Thomy de Ravel Jean-Pierre Fryns Elizabeth Sweeney Alan Fryer Sheila Unger L C Wilson Ralph S Lachman David L Rimoin Daniel H Cohn Deborah Krakow Stephen P Robertson

J Med Genet 2007 Feb 26;44(2):89-98. Epub 2006 Jun 26.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1136/jmg.2006.043687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2598053PMC
February 2007

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Authors:
Arjan P M de Brouwer Helger G Yntema Tjitske Kleefstra Dorien Lugtenberg Astrid R Oudakker Bert B A de Vries Hans van Bokhoven Hilde Van Esch Suzanne G M Frints Guy Froyen Jean-Pierre Fryns Martine Raynaud Marie-Pierre Moizard Nathalie Ronce Anissa Bensalem Claude Moraine Karine Poirier Laetitia Castelnau Yoann Saillour Thierry Bienvenu Chérif Beldjord Vincent des Portes Jamel Chelly Gillian Turner Tod Fullston Jozef Gecz Andreas W Kuss Andreas Tzschach Lars Riff Jensen Steffen Lenzner Vera M Kalscheuer Hans-Hilger Ropers Ben C J Hamel

Hum Mutat 2007 Feb;28(2):207-8

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.9482DOI Listing
February 2007

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

Authors:
Elke M Botzenhart Gabriella Bartalini Edward Blair Angela F Brady Frances Elmslie Karen L Chong Katie Christy Wilfredo Torres-Martinez Cesare Danesino Matthew A Deardorff Jean-Pierre Fryns Sandrine Marlin Sixto Garcia-Minaur Yorck Hellenbroich Beverly N Hay Maila Penttinen Vandana Shashi Paulien Terhal Lionel Van Maldergem Margo L Whiteford Elaine Zackai Jürgen Kohlhase

Hum Mutat 2007 Feb;28(2):204-5

Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

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http://doi.wiley.com/10.1002/humu.9476
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http://dx.doi.org/10.1002/humu.9476DOI Listing
February 2007

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Authors:
Hilde Van Esch Anna Jansen Marijke Bauters Guy Froyen Jean-Pierre Fryns

Am J Med Genet A 2007 Feb;143(4):364-9

Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31572DOI Listing
February 2007

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Authors:
Lars Riff Jensen Steffen Lenzner Bettina Moser Kristine Freude Andreas Tzschach Chen Wei Jean-Pierre Fryns Jamel Chelly Gillian Turner Claude Moraine Ben Hamel Hans-Hilger Ropers Andreas Walter Kuss

Eur J Hum Genet 2007 Jan 13;15(1):68-75. Epub 2006 Sep 13.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201714DOI Listing
January 2007

The East Flanders Prospective Twin Survey (EFPTS).

Authors:
Catherine A Derom Robert F Vlietinck Evert W Thiery Fernand O G Leroy Jean-Pierre Fryns Robert M Derom

Twin Res Hum Genet 2006 Dec;9(6):733-8

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1375/183242706779462723DOI Listing
December 2006

Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.

Authors:
Hilde Peeters Marianne L Voz Kristin Verschueren Bart De Cat Hélène Pendeville Bernard Thienpont Ann Schellens John W Belmont Guido David Wim J M Van De Ven Jean-Pierre Fryns Marc Gewillig Danny Huylebroeck Bernard Peers Koen Devriendt

Hum Mol Genet 2006 Nov 12;15(22):3369-77. Epub 2006 Oct 12.

Department of Human Genetics, Clinical Genetics Unit, University of Leuven, Belgium.

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http://dx.doi.org/10.1093/hmg/ddl413DOI Listing
November 2006

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Authors:
Tjitske Kleefstra Han G Brunner Jeanne Amiel Astrid R Oudakker Willy M Nillesen Alex Magee David Geneviève Valérie Cormier-Daire Hilde van Esch Jean-Pierre Fryns Ben C J Hamel Erik A Sistermans Bert B A de Vries Hans van Bokhoven

Am J Hum Genet 2006 Aug 13;79(2):370-7. Epub 2006 Jun 13.

Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763145
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http://dx.doi.org/10.1086/505693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559478PMC
August 2006

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Authors:
Griet Van Buggenhout Jean-Pierre Fryns

Orphanet J Rare Dis 2006 Jul 10;1:26. Epub 2006 Jul 10.

Centre for Human Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/1750-1172-1-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1538574PMC
July 2006

Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.

Authors:
Mie-Jef Descheemaeker Veerle Govers Peter Vermeulen Jean-Pierre Fryns

Am J Med Genet A 2006 Jun;140(11):1136-42

Centre for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31235DOI Listing
June 2006

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

Authors:
Capucine Delnatte Damien Sanlaville Jean-Francois Mougenot Joris-Robert Vermeesch Claude Houdayer Marie-Christine de Blois David Genevieve Olivier Goulet Jean-Pierre Fryns Francis Jaubert Michel Vekemans Stanislas Lyonnet Serge Romana Charis Eng Dominique Stoppa-Lyonnet

Am J Hum Genet 2006 Jun 14;78(6):1066-74. Epub 2006 Apr 14.

Department of Genetics, Institut Curie, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763928
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http://dx.doi.org/10.1086/504301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474102PMC
June 2006

Pfeiffer syndrome.

Authors:
Annick Vogels Jean-Pierre Fryns

Orphanet J Rare Dis 2006 Jun 1;1:19. Epub 2006 Jun 1.

Center for Human Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/1750-1172-1-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1482682PMC
June 2006

Single-cell chromosomal imbalances detection by array CGH.

Authors:
Cedric Le Caignec Claudia Spits Karen Sermon Martine De Rycke Bernard Thienpont Sophie Debrock Catherine Staessen Yves Moreau Jean-Pierre Fryns Andre Van Steirteghem Inge Liebaers Joris R Vermeesch

Nucleic Acids Res 2006 May 12;34(9):e68. Epub 2006 May 12.

Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1093/nar/gkl336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303179PMC
May 2006

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

Authors:
Anil K Agarwal Xin J Zhou Roger K Hall Kathy Nicholls Agnes Bankier Hilde Van Esch Jean-Pierre Fryns Abhimanyu Garg

J Investig Med 2006 May;54(4):208-13

From the Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center, Dallas, TX 75390-9052, USA.

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http://dx.doi.org/10.2310/6650.2006.05068DOI Listing
May 2006