Alain Verloes

Alain Verloes

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Alain Verloes

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Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.

J Mol Neurosci 2019 Jul;68(3):321-330

Lily and Avraham Gildor Chair for the Investigation of Growth Factors, Elton Laboratory for Neuroendocrinology Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Adams Super Center for Brain studies and Sagol School of Neuroscience, Tel Aviv University, 69978, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12031-019-01333-9DOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. 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
June 2019

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Eur J Med Genet 2019 Jun 14:103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103704DOI Listing
June 2019

Golgipathies in Neurodevelopment: A New View of Old Defects.

Dev Neurosci 2019 Mar 15:1-21. Epub 2019 Mar 15.

NeuroDiderot, INSERM UMR1141, Université Paris Diderot, Sorbonne Paris Cité, Paris, France,

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http://dx.doi.org/10.1159/000497035DOI Listing
March 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Mar 28. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
March 2019

Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Eur J Med Genet 2019 Jan 19. Epub 2019 Jan 19.

Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR1141, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.007DOI Listing
January 2019

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.

Haematologica 2018 06 7;103(6):e274-e276. Epub 2017 Dec 7.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, France

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http://dx.doi.org/10.3324/haematol.2017.178590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058797PMC
June 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

How to recognize Cowden syndrome: A novel PTEN mutation description.

Ann Endocrinol (Paris) 2017 Jul 2;78(3):188-190. Epub 2017 Mar 2.

Service d'endocrinologie, CHU de Liège, rue de l'Hôpital 1, 4000 Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2017.01.001DOI Listing
July 2017

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Am J Med Genet A 2017 Jul 25;173(7):1936-1942. Epub 2017 Apr 25.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38217DOI Listing
July 2017

Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival.

Eur J Dermatol 2017 06;27(3):328-329

Department of Genetics, Robert Debré Hospital, 48 bd Sérurier- 75019 Paris, France.

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http://dx.doi.org/10.1684/ejd.2017.3007DOI Listing
June 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

Am J Med Genet A 2016 10 13;170(10):2750-5. Epub 2016 Jul 13.

Department of Genetics, APHP-Robert Debré University Hospital and Paris VII-Denis Diderot Medical School Paris, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37825DOI Listing
October 2016

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974084PMC
August 2016

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

Orphanet J Rare Dis 2016 07 22;11(1):101. Epub 2016 Jul 22.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Bâtiment Jean Dausset, 3ème étage, 27 rue du Faubourg Saint Jacques, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0479-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957908PMC
July 2016

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

Eur J Endocrinol 2016 May 22;174(5):641-50. Epub 2016 Feb 22.

EndocrineBone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France INSERM UMR 1043Centre of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France

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http://dx.doi.org/10.1530/EJE-15-0922DOI Listing
May 2016

Incomplete penetrance of biallelic ALDH1A3 mutations.

Eur J Med Genet 2016 Apr 10;59(4):215-8. Epub 2016 Feb 10.

Genetics Department, Purpan University Hospital, France; UDEAR, UMR 1056 Inserm - Université de Toulouse, FRE 3742 CNRS, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.004DOI Listing
April 2016

Acute lymphoblastic leukemia in the context of RASopathies.

Eur J Med Genet 2016 Mar 5;59(3):173-8. Epub 2016 Feb 5.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1141, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.01.003DOI Listing
March 2016

Prenatal findings in cardio-facio-cutaneous syndrome.

Am J Med Genet A 2016 Feb 22;170A(2):441-445. Epub 2015 Oct 22.

Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37420DOI Listing
February 2016

Clinical utility gene card for: CHARGE syndrome - update 2015.

Eur J Hum Genet 2015 Nov 18;23(11). Epub 2015 Feb 18.

Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris, France.

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http://www.nature.com/doifinder/10.1038/ejhg.2015.15
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http://dx.doi.org/10.1038/ejhg.2015.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613487PMC
November 2015

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Eur J Med Genet 2015 Sep 8;58(9):497-501. Epub 2015 Jul 8.

AP-HP, Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France; AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.001DOI Listing
September 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

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http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Eur J Med Genet 2015 May 13;58(5):293-9. Epub 2015 Feb 13.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.008DOI Listing
May 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Am J Med Genet A 2014 Oct 26;164A(10):2504-9. Epub 2014 Jun 26.

Department of Developmental Biology, AP-HP, Robert Debré University Hospital, Paris and Diderot University, Paris, France; Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.a.36658DOI Listing
October 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

J Med Genet 2014 Oct 5;51(10):689-97. Epub 2014 Aug 5.

INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.

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http://jmg.bmj.com/content/early/2014/08/05/jmedgenet-2014-1
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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2014-102611
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2014-102611DOI Listing
October 2014

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Am J Med Genet A 2014 Sep 20;164A(9):2344-50. Epub 2014 May 20.

Hôpital Henri Mondor, AP-HP, Laboratoire de Biochimie et Génétique, Créteil, France; INSERM, U955, Equipe 11, Créteil, France; Université Paris Est, UMR_S955, UPEC, Créteil, France.

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http://dx.doi.org/10.1002/ajmg.a.36612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225272PMC
September 2014

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A 2014 Sep 28;164A(9):2335-7. Epub 2014 May 28.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36619DOI Listing
September 2014

Microcephaly.

Handb Clin Neurol 2013 ;111:129-41

Department of Genetics, Hôpital Robert Debré, Paris, France; Inserm U676 and Medical School, Denis Diderot-Paris VII University, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00013-0DOI Listing
April 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Eur J Med Genet 2014 Jan 7;57(1):32-6. Epub 2013 Nov 7.

Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.10.005DOI Listing
January 2014

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

Mol Autism 2013 Aug 23;4(1):29. Epub 2013 Aug 23.

Department of Child and Adolescent Psychiatry, Centre Hospitalier Guillaume Regnier and Medical School of the University of Rennes 1, Rennes 35000, France.

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http://molecularautism.biomedcentral.com/articles/10.1186/20
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http://dx.doi.org/10.1186/2040-2392-4-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765460PMC
August 2013

Clinical utility gene card for: Rothmund-Thomson syndrome.

Eur J Hum Genet 2013 Jul 28;21(7). Epub 2012 Nov 28.

Dipartimento di Scienze della Salute, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722954PMC
July 2013

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Am J Med Genet A 2012 Oct 7;158A(10):2407-11. Epub 2012 Aug 7.

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

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http://dx.doi.org/10.1002/ajmg.a.35513DOI Listing
October 2012

Pseudoaminopterin syndrome.

Am J Med Genet A 2012 Sep 18;158A(9):2233-8. Epub 2012 Jul 18.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII University, Denis Diderot Medical School, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35212DOI Listing
September 2012

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Am J Med Genet A 2012 Sep 20;158A(9):2277-82. Epub 2012 Jul 20.

Department of Genetics, APHP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35494DOI Listing
September 2012

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Am J Med Genet A 2012 Jun 23;158A(6):1406-10. Epub 2012 Apr 23.

Centre de Référence Syndromes Malformatifs et Anomalies du Développement, Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy et PRES de l'Université de Lorraine, UHP, Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.35329DOI Listing
June 2012