Yves Sznajer

Yves Sznajer

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Yves Sznajer

Yves Sznajer

Publications by authors named "Yves Sznajer"

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49Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Eur J Obstet Gynecol Reprod Biol 2019 Sep 16;240:232-241. Epub 2019 Jul 16.

Center for Human Genetics, Saint-Luc University Hospital, UCL, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejogrb.2019.06.035DOI Listing
September 2019

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

Horm Res Paediatr 2018 15;89(6):423-433. Epub 2018 Jun 15.

Pediatric Endocrinology Unit, Cliniques universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1159/000488761DOI Listing
November 2018

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.

Prenat Diagn 2018 04 23;38(5):337-343. Epub 2018 Mar 23.

Centre for Human Genetics, Cliniques Universitaires St. Luc, UCL, Brussels, Belgium.

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http://dx.doi.org/10.1002/pd.5243DOI Listing
April 2018

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

Int J Pediatr Otorhinolaryngol 2018 Jan 22;104:191-194. Epub 2017 Nov 22.

Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876173056
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http://dx.doi.org/10.1016/j.ijporl.2017.11.022DOI Listing
January 2018

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Dermatol Pract Concept 2018 Jan 31;8(1):59-62. Epub 2018 Jan 31.

Department of Dermatology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.5826/dpc.0801a14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808376PMC
January 2018

Neurobehavioural vulnerability and autistic traits in RASopathies.

Authors:
Yves Sznajer

Dev Med Child Neurol 2017 05 22;59(5):461. Epub 2017 Feb 22.

Centre for Human Genetics, Cliniques universitaires St Luc - UCL, Brussels, Belgium.

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http://dx.doi.org/10.1111/dmcn.13409DOI Listing
May 2017

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

Eur J Med Genet 2017 Feb 9;60(2):100-104. Epub 2016 Nov 9.

Centre de Génétique Humaine, Cliniques Universitaires St. Luc, U.C.L., Brussels.

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http://dx.doi.org/10.1016/j.ejmg.2016.11.002DOI Listing
February 2017

'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.

J Neurol 2016 Nov 13;263(11):2327-2329. Epub 2016 Sep 13.

Center for Human Genetic, Cliniques Universitaires St-Luc, Université Catholique de Louvain, 10 Av. Hippocrate, 1200, Brussels, Belgium.

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http://dx.doi.org/10.1007/s00415-016-8280-3DOI Listing
November 2016

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Am J Med Genet A 2016 May 20;170A(5):1216-24. Epub 2016 Jan 20.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37564DOI Listing
May 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

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

Am J Med Genet A 2014 Jul 3;164A(7):1789-94. Epub 2014 Apr 3.

Center for Human Genetics, Cliniques Universitaires St. Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36516DOI Listing
July 2014

Clinical utility gene card for: poikiloderma with neutropenia.

Eur J Hum Genet 2013 Oct 16;21(10). Epub 2013 Jan 16.

Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778337PMC
October 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

Eur J Med Genet 2013 Jan 26;56(1):46-9. Epub 2012 Oct 26.

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.006DOI Listing
January 2013

Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.

Cleft Palate Craniofac J 2012 May 3;49(3):357-64. Epub 2011 May 3.

Department of Pediatric Maxillo-Facial and Plastic Surgery, Hôpital d'Enfant Armand-Trousseau, AP-HP, 26 Avenue du Dr. Arnold Netter, 75571, Paris, France.

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http://dx.doi.org/10.1597/10-203DOI Listing
May 2012

Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

J Pediatr 2009 Jul 25;155(1):90-3. Epub 2009 Apr 25.

Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2009.02.023DOI Listing
July 2009

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Nephrol Dial Transplant 2008 Dec 12;23(12):3874-9. Epub 2008 Jul 12.

Departamento de Genética da Faculdade de Ciências Médicas, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1093/ndt/gfn386DOI Listing
December 2008

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

Am J Med Genet A 2008 Apr;146A(8):1038-41

Hôpital Universitaire des Enfants Reine Fabiola, ULB, Pediatric Clinical Genetics, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32247DOI Listing
April 2008

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Eur J Pediatr 2008 Feb 20;167(2):175-81. Epub 2007 Mar 20.

Clinical Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Unité de Génétique Clinique and Center for Human Genetics, Université Libre de Bruxelles, 15 avenue J.J Crocq, 1020, Brussels, Belgium.

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http://dx.doi.org/10.1007/s00431-007-0447-6DOI Listing
February 2008

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

Eur J Paediatr Neurol 2008 Jan 5;12(1):46-50. Epub 2007 Jul 5.

Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Av. J.J. Crocq 15, 1020 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2007.05.004DOI Listing
January 2008

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Pediatrics 2007 Jun 21;119(6):e1325-31. Epub 2007 May 21.

Department of Medical Genetics, AP-HP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1542/peds.2006-0211DOI Listing
June 2007

Airway eicosanoids in acute severe respiratory syncytial virus bronchiolitis.

J Pediatr 2004 Jul;145(1):115-8

Pediatric Intensive Care Unit, Sainte-Justine Hospital, University of Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2004.03.049DOI Listing
July 2004

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Eur J Pediatr 2003 Dec 30;162(12):863-7. Epub 2003 Sep 30.

Clinical Genetics Unit, INSERM E9935, Hôpital Robert Debré, 48 boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/s00431-003-1317-5DOI Listing
December 2003