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List of works by Philippe Khau Van Kien

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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

scientific article published in June 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders

scientific article
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

scientific article
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

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

scientific article
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

scientific article published on 3 June 2013
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

scientific article published on March 10, 2011
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype

scientific article published on 14 May 2015
Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

scientific article published on 01 April 2004
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

scientific article
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

scientific article published in November 2017
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

scientific article published in January 2010
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

scientific article
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

scientific article published in May 2004
Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency

scientific article published on 01 August 2007
Vitamin K deficiency embryopathy

scientific article published on August 27, 1998
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

scientific article published on 28 July 2018
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

scientific article
A homozygousPAX3mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

scientific article published on 03 November 2015
A New Lamin A Mutation Associated with Acrogeria Syndrome

scientific article published on 01 April 2014
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

scientific article published on 23 September 2019
Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome

scientific article published on 02 May 2012
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

scientific article published on 17 August 2018
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

scientific article published on 07 January 2021
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

scientific article published on 17 June 2020
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials

scientific article published on 07 January 2021
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

scientific article published on 10 March 2020
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

scientific article published on 11 December 2021
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

scholarly article
Next-Generation Sequencing in a Series of 80 Fetuses with Complex Cardiac Malformations and/or Heterotaxy

scientific article published on 01 November 2020

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