P. Khau Van Kien

发表

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

P. Byers, M. Holder-Espinasse, W. Lissens, 2017, Journal of Medical Genetics.

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

S. Julia, J. Salles, M. Tauber, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

C. Béroud, D. Hamroun, M. Claustres, 2010, Pathologie-biologie.

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

S. Julia, N. Chassaing, G. Jondeau, 2020, Molecular genetics & genomic medicine.

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

B. Isidor, A. David, M. le Merrer, 2010, American journal of medical genetics. Part A.

Dissecting the Structure and Mechanism of a Complex Duplication–Triplication Rearrangement in the DMD Gene

M. Claustres, Jian-Min Chen, F. Baudat, 2013, Human mutation.

C. Bodemer, Elif Yilmaz Gulec, A. Gezdirici, 2018, Experimental dermatology.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

N. Lévy, S. Sacconi, G. Cristofari, 2018, American journal of medical genetics. Part A.

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

R. Salomon, O. Gribouval, F. Silbermann, 2014, American journal of human genetics.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

N. Chassaing, T. Lavabre‐Bertrand, G. Rolland, 2021, European Journal of Human Genetics.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

Prenatal overgrowth and mosaic trisomy 15q25‐qter including the IGF1 receptor gene

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2004, Prenatal diagnosis.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

N. Nadal, P. Khau Van Kien, Christel Robinet, 2000, Prenatal diagnosis.

A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

J. Chiésa, F. Grosjean, V. Pingault, 2015, Prenatal diagnosis.

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

C. Frassoni, L. D'Incerti, L. Faivre, 2020, The EMBO journal.

[Vascular Ehlers-Danlos syndrome].

É. Mousseaux, P. Boutouyrie, X. Jeunemaître, 2006, Presse medicale.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

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

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

A. Munnich, L. Faivre, V. Cormier-Daire, 2001, American journal of medical genetics.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

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

M. Claustres, J. Schved, M. Romey, 2007, British journal of haematology.

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

B. Gilbert-Dussardier, K. Chennen, O. Poch, 2019, Clinical genetics.

Cloacal exstrophy in an infant with 9q34.1‐qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

L. Faivre, M. Fellous, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

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

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

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

P. Rustin, X. Jeunemaître, P. Corvol, 2003, Cancer research.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

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

G. Lefranc, M. Barat‐Houari, I. Touitou, 2013, Genetics research international.

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

L. Faivre, P. Khau Van Kien, F. Beer, 1999, American journal of medical genetics.

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.

I. Luquet, F. Huet, F. Mugneret, 1999, Annales de genetique.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

P. Calvas, C. Moutou, C. Goizet, 2020, Scientific Reports.

Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chain

A. Lalande, X. Jeunemaître, P. Walker, 2008, Journal of magnetic resonance imaging : JMRI.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

S. Julia, T. Lavabre‐Bertrand, G. Rolland, 2021, Molecular genetics & genomic medicine.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

M. Koenig, M. Claustres, E. Bieth, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

R. Favre, P. Calvas, C. Moutou, 2020, Scientific Reports.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

M. Koenig, M. Claustres, E. Bieth, 2018, Fetal Diagnosis and Therapy.

Automatic Determination of Aortic Compliance With Cine-Magnetic Resonance Imaging: An Application of Fuzzy Logic Theory

A. Lalande, F. Brunotte, J. Wolf, 2002, Investigative radiology.

Vitamin K deficiency embryopathy.

S. Douvier, P. Khau Van Kien, C. Maingueneau, 1998, American journal of medical genetics.