Publications by authors named "Philippe Khau Van Kien"

40Publications

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Am J Med Genet A 2018 08 28;176(8):1760-1763. Epub 2018 Jul 28.

Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.

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http://doi.wiley.com/10.1002/ajmg.a.38843
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http://dx.doi.org/10.1002/ajmg.a.38843DOI Listing
August 2018

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

J Bone Miner Res 2015 Aug 14;30(8):1369-76. Epub 2015 May 14.

Endocrine, Bone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France.

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http://dx.doi.org/10.1002/jbmr.2471DOI Listing
August 2015

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

A new lamin a mutation associated with acrogeria syndrome.

J Invest Dermatol 2014 Aug 1;134(8):2274-2277. Epub 2014 Apr 1.

Aix Marseille Université, GMGF, INSERM, UMR_S 910, Marseille, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.158DOI Listing
August 2014

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.

Genet Res Int 2013 9;2013:784789. Epub 2013 Dec 9.

Unité Médicale des Maladies Auto-Inflammatoires, Département de Génétique, CHRU, Montpellier, 34961 Montpellier Cedex 2, France.

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http://dx.doi.org/10.1155/2013/784789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872160PMC
January 2014

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Am J Med Genet A 2010 Jun;152A(6):1550-4

Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.33397DOI Listing
June 2010

Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency.

Br J Haematol 2007 Aug;138(3):359-65

Inserm, U827, Laboratoire de Génétique de Maladies Rares: Pathologie Moléculaire, Etudes Fonctionnelles et Banques de Données Génétiques, Montpellier, France.

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http://dx.doi.org/10.1111/j.1365-2141.2007.06660.xDOI Listing
August 2007

[Vascular Ehlers-Danlos syndrome].

Presse Med 2006 Dec;35(12 Pt 2):1864-75

Groupe Multidisciplinaire de Prise en Charge du Syndrome d'Ehlers-Danlos Vasculaire, Hôpital européen Georges Pompidou, Paris.

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http://dx.doi.org/10.1016/s0755-4982(06)74919-3DOI Listing
December 2006

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Cancer Res 2003 Sep;63(17):5615-21

AP/HP, Hôpital Européen Georges Pompidou, Département de Génétique Moléculaire, Paris.

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September 2003