Sandra Janssens

Sandra Janssens

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Sandra Janssens

Sandra Janssens

Publications by authors named "Sandra Janssens"

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Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Am J Med Genet A 2019 Dec 9;179(12):2494-2499. Epub 2019 Oct 9.

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

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http://dx.doi.org/10.1002/ajmg.a.61377DOI Listing
December 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Attitudes of European Geneticists Regarding Expanded Carrier Screening.

J Obstet Gynecol Neonatal Nurs 2017 Jan - Feb;46(1):63-71. Epub 2016 Nov 19.

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http://dx.doi.org/10.1016/j.jogn.2016.08.012DOI Listing
February 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

BMC Med Ethics 2017 Aug 1;18(1):46. Epub 2017 Aug 1.

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven - University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12910-017-0206-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539885PMC
August 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium.

Genet Test Mol Biomarkers 2017 Mar;21(3):195-201

1 Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium .

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http://dx.doi.org/10.1089/gtmb.2016.0418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488261PMC
March 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Designing expanded carrier screening panels: results of a qualitative study with European geneticists.

Per Med 2016 Nov 13;13(6):553-562. Epub 2016 Oct 13.

Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35, Box 7001, 3000 Leuven, Belgium.

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https://www.futuremedicine.com/doi/10.2217/pme-2016-0018
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http://dx.doi.org/10.2217/pme-2016-0018DOI Listing
November 2016

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Prenat Diagn 2016 Aug 1;36(8):699-707. Epub 2016 Jul 1.

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

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http://dx.doi.org/10.1002/pd.4841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108441PMC
August 2016

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Eur J Hum Genet 2016 Apr 29;24(4):506-12. Epub 2015 Jul 29.

Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2015.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929879PMC
April 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscul Disord 2015 Jul 30;25(7):533-41. Epub 2015 Mar 30.

Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy; Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502439PMC
July 2015

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.

Eur J Hum Genet 2015 May 30;23(5):628-32. Epub 2014 Jul 30.

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

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http://dx.doi.org/10.1038/ejhg.2014.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402620PMC
May 2015

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status.

Per Med 2015 Mar;12(2):99-107

Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium.

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http://dx.doi.org/10.2217/pme.14.75DOI Listing
March 2015

Etiological approach in patients with unidentified hearing loss.

Int J Pediatr Otorhinolaryngol 2015 Feb 16;79(2):216-22. Epub 2014 Dec 16.

Department of Otorhinolaryngology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.12.012DOI Listing
February 2015

Deficient motor timing in children with neurofibromatosis type 1.

Res Dev Disabil 2014 Nov 20;35(11):3131-8. Epub 2014 Aug 20.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Campus Heymans, Ghent University Hospital, 2B3, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ridd.2014.07.059DOI Listing
November 2014

Middle and inner ear malformations in two siblings exposed to valproic acid during pregnancy: a case report.

Int J Pediatr Otorhinolaryngol 2014 Nov 28;78(11):2007-10. Epub 2014 Aug 28.

ENT Department, University Hospital Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ijporl.2014.08.030DOI Listing
November 2014

Articulation in schoolchildren and adults with neurofibromatosis type 1.

J Commun Disord 2012 Mar-Apr;45(2):111-20. Epub 2011 Dec 1.

Department of Otorhinolaryngology and Logopaedic-Audiologic Sciences, Ghent University, Ghent University Hospital 2P1, De Pintelaan 185, 9000 Gent, Belgium.

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http://dx.doi.org/10.1016/j.jcomdis.2011.11.002DOI Listing
June 2012

Voice-related quality of life in adults with neurofibromatosis type 1.

J Voice 2012 Mar 7;26(2):e57-62. Epub 2011 May 7.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University Hospital, De Pintelaan 185, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jvoice.2010.11.001DOI Listing
March 2012

Objective assessment of nasality in Flemish adults with neurofibromatosis type 1.

Am J Med Genet A 2011 Dec 3;155A(12):2974-81. Epub 2011 Nov 3.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.34314DOI Listing
December 2011

Voice characteristics in adults with neurofibromatosis type 1.

J Voice 2011 Nov 16;25(6):759-64. Epub 2010 Oct 16.

Department of Otorhinolaryngology and Logopaedic & Audiologic Sciences, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jvoice.2010.07.007DOI Listing
November 2011

Speech disorders in neurofibromatosis type 1: a sample survey.

Int J Lang Commun Disord 2010 Sep-Oct;45(5):600-7

Department of Otorhinolaryngology, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.3109/13682820903312311DOI Listing
January 2011

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

J Med Genet 2010 Oct 3;47(10):717-20. Epub 2010 Aug 3.

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

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.077586
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http://dx.doi.org/10.1136/jmg.2010.077586DOI Listing
October 2010

Barber-Say syndrome in a father and daughter.

Am J Med Genet A 2010 Oct;152A(10):2563-8

Department of Plastic and Reconstructive Surgery, University Hospital, Gent, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.33622
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http://dx.doi.org/10.1002/ajmg.a.33622DOI Listing
October 2010

Word-final prolongations in an adult male with neurofibromatosis type 1.

J Fluency Disord 2010 Sep 24;35(3):235-45. Epub 2010 May 24.

Department of Otorhinolaryngology & Logopaedic and Audiologic Sciences, Ghent University, De Pintelaan 185 2P1, Gent, Belgium.

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http://dx.doi.org/10.1016/j.jfludis.2010.05.001DOI Listing
September 2010

Speech fluency in neurofibromatosis type 1.

J Fluency Disord 2010 Mar 25;35(1):59-69. Epub 2010 Jan 25.

Department of Otorhinolaryngology & Logopaedic and Audiologic Sciences, Ghent University, Ghent University Hospital 2P1, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jfludis.2010.01.002DOI Listing
March 2010

Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss.

Eur J Med Genet 2009 Jul-Aug;52(4):185-90. Epub 2009 Mar 12.

Laboratory of Molecular Genetics, Department of Otolaryngology, New York University School of Medicine, 560 First Avenue, TCH 513, New York, NY 10016, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900017
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http://dx.doi.org/10.1016/j.ejmg.2009.02.010DOI Listing
November 2009

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

Am J Hum Genet 2007 Aug 20;81(2):243-51. Epub 2007 Jun 20.

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

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http://dx.doi.org/10.1086/519562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950809PMC
August 2007

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

Dermatology 2004 ;209(3):223-7

Department of Dermatology, University Hospital Ghent, Ghent, Belgium.

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http://dx.doi.org/10.1159/000079894DOI Listing
December 2004