Publications by authors named "Valerie Cormier-Daire"

99Publications

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

Genet Med 2020 Oct 21. Epub 2020 Oct 21.

Fédération de Génétique médicale, Centre de référence pour les maladies osseuses constitutionnelles AP-HP, Hôpital Necker-Enfants malades, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-00994-xDOI Listing
October 2020

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Nov 14;107(5):977-988. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675002PMC
November 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases.

J Craniomaxillofac Surg 2020 Jun 13;48(6):536-547. Epub 2020 Apr 13.

Unité Fonctionnelle de Chirurgie Craniofaciale, Service de Neurochirurgie, Hôpital Universitaire Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Centre de Référence Craniosténoses et Malformations Craniofaciales (CRANIOST), Filière Santé Maladies Rares TeteCo, Université Paris-Descartes, Université Sorbonne Paris Cité, Paris, France; Clinique Marcel Sembat, Centre de Compétence Craniosténoses et Malformations Craniofaciales (CRANIOST), Filière Santé Maladies Rares TeteCou, Ramsay-Générale de Santé, Boulogne-Billancourt, France.

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http://dx.doi.org/10.1016/j.jcms.2020.04.001DOI Listing
June 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 07 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

J Bone Miner Res 2020 Aug 14;35(8):1470-1480. Epub 2020 Apr 14.

Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, F-75015, Paris, France.

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http://dx.doi.org/10.1002/jbmr.4011DOI Listing
August 2020

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Sci Rep 2020 03 13;10(1):4699. Epub 2020 Mar 13.

Université de Paris, BIOSCAR Inserm U1132 and Department of Rheumatology and Reference Center for Constitutional Bone Diseases, AP-HP Hospital Lariboisière, F-75010, Paris, France.

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http://dx.doi.org/10.1038/s41598-020-61704-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7070089PMC
March 2020

New perspectives on the treatment of skeletal dysplasia.

Ther Adv Endocrinol Metab 2020 3;11:2042018820904016. Epub 2020 Mar 3.

Clinical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, 149 rue de sevres, Paris, 75015, France.

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http://dx.doi.org/10.1177/2042018820904016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054735PMC
March 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 04 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
April 2020

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments.

Orphanet J Rare Dis 2020 01 3;15(1). Epub 2020 Jan 3.

Assistance Publique - Hôpitaux de Paris, Pediatric Emergency Department, Necker-Enfants Malades Hospital, Paris Descartes University - Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1186/s13023-019-1284-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942261PMC
January 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

Eur J Med Genet 2020 Apr 7;63(4):103823. Epub 2019 Dec 7.

Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; Unité de recherche en neurosciences intégratives et cognitives EA481, Université de Franche-Comté, Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103823DOI Listing
April 2020

Juvenile osteoporosis with calvarial doughnuts: Progressive high-turnover bone loss responsive to bisphosphonate therapy.

Joint Bone Spine 2020 05 1;87(3):271-272. Epub 2019 Nov 1.

Centre de rhumatologie, CHU Purpan, 31300 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2019.10.006DOI Listing
May 2020

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Am J Med Genet A 2020 01 25;182(1):29-37. Epub 2019 Oct 25.

AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61364DOI Listing
January 2020

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):509-518. Epub 2019 Oct 23.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.31746DOI Listing
December 2019

Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 12 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Eur J Med Genet 2020 Feb 15;63(2):103729. Epub 2019 Jul 15.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103729DOI Listing
February 2020

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

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http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 10 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Sleep-disordered breathing in children with mucolipidosis.

Am J Med Genet A 2019 07 30;179(7):1196-1204. Epub 2019 Apr 30.

AP-HP, Hôpital Necker Enfants-Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61167DOI Listing
July 2019

Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Nat Rev Endocrinol 2019 05;15(5):299-311

Sorbonne Université, INSERM UMR_S938, Centre de Recherche Saint Antoine, AP-HP Hôpital Trousseau, Paris, France.

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http://www.nature.com/articles/s41574-019-0180-z
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http://dx.doi.org/10.1038/s41574-019-0180-zDOI Listing
May 2019

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Am J Med Genet A 2019 04 14;179(4):639-644. Epub 2019 Feb 14.

Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61050DOI Listing
April 2019

A retrospective study on sleep-disordered breathing in Morquio-A syndrome.

Am J Med Genet A 2018 12 18;176(12):2595-2603. Epub 2018 Nov 18.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40642
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http://dx.doi.org/10.1002/ajmg.a.40642DOI Listing
December 2018

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

FASEB J 2019 02 10;33(2):2707-2718. Epub 2018 Oct 10.

INSERM Unité Mixte de Recherche (UMR) 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, Paris Descartes University-Sorbonne Paris Cité, Paris, France.

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https://www.fasebj.org/doi/10.1096/fj.201800753RR
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http://dx.doi.org/10.1096/fj.201800753RRDOI Listing
February 2019

Serum bikunin is a biomarker of linkeropathies.

Clin Chim Acta 2018 Oct 30;485:178-180. Epub 2018 Jun 30.

Biochimie Métabolique et Cellulaire, AP-HP, Hôpital Bichat-Claude Bernard, Paris, France; Paris Descartes University, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183033
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http://dx.doi.org/10.1016/j.cca.2018.06.044DOI Listing
October 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Hum Mutat 2017 12 21;38(12):1731-1739. Epub 2017 Sep 21.

IRIBHM, Campus Erasme, ULB Bâtiment C, Bruxelles, Belgium.

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http://dx.doi.org/10.1002/humu.23321DOI Listing
December 2017

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

J Allergy Clin Immunol 2018 01 5;141(1):408-411.e8. Epub 2017 Aug 5.

Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.043DOI Listing
January 2018

Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases.

Clin Neurol Neurosurg 2017 Sep 18;160:147-151. Epub 2017 Jul 18.

Centre de référence des maladies osseuses constitutionnelles, Hopital Necker Assistance Publique-Hôpitaux de Paris, France et Imagine Institute, INSERM U1163, Paris, France.

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http://dx.doi.org/10.1016/j.clineuro.2017.07.011DOI Listing
September 2017

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.

Orphanet J Rare Dis 2017 06 30;12(1):123. Epub 2017 Jun 30.

Institut Imagine, Centre de Référence Maladies Osseuses Constitutionnelles, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants malades, 149 rue de Sèvres, 75015, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-017-06
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http://dx.doi.org/10.1186/s13023-017-0674-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493013PMC
June 2017

Sleep-disordered breathing and its management in children with achondroplasia.

Am J Med Genet A 2017 Apr 27;173(4):868-878. Epub 2017 Feb 27.

AP-HP, Hôpital Necker-Enfants malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.38130
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http://dx.doi.org/10.1002/ajmg.a.38130DOI Listing
April 2017

Central sleep apnea in children: experience at a single center.

Sleep Med 2016 09 31;25:24-28. Epub 2016 Aug 31.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker Enfants-Malades, Paris, France; Paris Descartes University, Paris, France; Inserm U955, Team 13, Créteil Université, Paris XII, Créteil, France.

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http://dx.doi.org/10.1016/j.sleep.2016.07.016DOI Listing
September 2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

J Hum Genet 2017 Feb 8;62(2):229-234. Epub 2016 Sep 8.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2016.113DOI Listing
February 2017

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Am J Hum Genet 2016 08 14;99(2):407-13. Epub 2016 Jul 14.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974068PMC
August 2016

Ghosal Type Hematodiaphyseal Dysplasia.

Indian Pediatr 2016 Apr;53(4):347-8

Department of Pediatrics, AIIMS, New Delhi, India; #Imagine Institut des Maladies Genetiques, France;and $Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-016-0851-yDOI Listing
April 2016

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103647DOI Listing
July 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

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http://www.nature.com/articles/ejhg2015140
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http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient.

J Allergy Clin Immunol 2015 Nov 30;136(5):1418-21.e1-5. Epub 2015 Jun 30.

Sorbonne Paris Cité, Paris Descartes University, Imagine Institute, Paris, France; Centre de référence des déficits immunitaires héréditaires (CEREDIH), Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France; Study Centre for Primary Immunodeficiencies, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, IMAGINE Institute, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2015.05.021DOI Listing
November 2015

Chondrodysplasias and TGFβ signaling.

Bonekey Rep 2015 11;4:642. Epub 2015 Mar 11.

INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasias, Department of Genetics, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants Malades Hospital, Imagine Institute , Paris, France.

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http://dx.doi.org/10.1038/bonekey.2015.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357213PMC
March 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

Hum Mutat 2015 Feb 11;36(2):187-90. Epub 2014 Dec 11.

Department of Genetics, INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/humu.22729DOI Listing
February 2015