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

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?

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.

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.

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

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

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

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

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

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.

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

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

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

Recent developments in the genetic factors underlying congenital diaphragmatic hernia.

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.

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

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

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

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

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

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

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

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

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

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

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

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

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).

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

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

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

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.

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

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

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

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

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

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

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.

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.

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

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

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

Trisomy 18 presenting with severe limb deformations.

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

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

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

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

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

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.

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

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

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.

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.

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

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

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.

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

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

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

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

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.

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).

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

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

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.

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

Pfeiffer syndrome.

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

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

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