Valerie Cormier-Daire

Valerie Cormier-Daire

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Valerie Cormier-Daire

Valerie Cormier-Daire

Publications by authors named "Valerie Cormier-Daire"

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Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 Dec 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

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

Clin Genet 2019 Oct 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

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

Am J Med Genet C Semin Med Genet 2019 Oct 23. 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
October 2019

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

Am J Med Genet A 2019 Oct 25. 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
October 2019

Juvenile Osteoporosis with Calvarial Doughnuts: Progressive High-Turnover Bone Loss Responsive to Bisphosphonate Therapy.

Joint Bone Spine 2019 Oct 31. Epub 2019 Oct 31.

Centre de Rhumatologie, CHU Purpan, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2019.10.006DOI Listing
October 2019

Sleep-disordered breathing in children with mucolipidosis.

Am J Med Genet A 2019 Jul 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

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

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 2019 Jul 15:103729. 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
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 Apr 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

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

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

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

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

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

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

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

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

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

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

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

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

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

Craniovertebral junction anomalies in achondroplastic children.

Adv Tech Stand Neurosurg 2014 ;40:295-312

Pediatric Neurosurgical Departement, Hôpital Necker-Enfants Malades, APHP, 149, Rue de Sèvres, Paris, 75743, France.

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http://dx.doi.org/10.1007/978-3-319-01065-6_10DOI Listing
April 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

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

Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.

Horm Res Paediatr 2014 15;82(6):355-63. Epub 2014 Oct 15.

Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000364807DOI Listing
October 2015

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

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

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Eur J Hum Genet 2015 Jan 23;23(1):49-53. Epub 2014 Apr 23.

Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.

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http://www.nature.com/articles/ejhg201460
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http://dx.doi.org/10.1038/ejhg.2014.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266744PMC
January 2015

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

Eur J Hum Genet 2014 Dec 16;22(12):1413-6. Epub 2014 Apr 16.

Unité Fonctionnelle de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Pôle B2P, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231413PMC
December 2014

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

The 3M complex maintains microtubule and genome integrity.

Mol Cell 2014 Jun 1;54(5):791-804. Epub 2014 May 1.

Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7295, USA; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7295, USA; Program in Molecular Biology and Biotechnology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7295, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10972765140028
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http://dx.doi.org/10.1016/j.molcel.2014.03.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165194PMC
June 2014

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

PLoS Genet 2014 May 1;10(5):e1004311. Epub 2014 May 1.

Unité de Génétique Médicale et Laboratoire International associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1371/journal.pgen.1004311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740PMC
May 2014

A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

Am J Med Genet A 2014 Apr 23;164A(4):1010-4. Epub 2014 Jan 23.

Unité de Génétique Médicale et Laboratoire Associe INSERM UMR S_910, Pôle Technologie Santé, Université Saint Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.36372DOI Listing
April 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

XYLT1 mutations in Desbuquois dysplasia type 2.

Am J Hum Genet 2014 Mar 27;94(3):405-14. Epub 2014 Feb 27.

Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951945PMC
March 2014

Orthopedics management of acromicric dysplasia: follow up of nine patients.

Am J Med Genet A 2014 Feb 11;164A(2):331-7. Epub 2013 Dec 11.

Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France; Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36139
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http://dx.doi.org/10.1002/ajmg.a.36139DOI Listing
February 2014

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013