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A focus on dominant negative variants in a series of 170 heterozygous FXI‐deficient patients

Haemophilia : the official journal of the World Federation of Hemophilia, 2023-07, Vol.29 (4), p.1113-1120

2023

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Four novel FXI gene mutations in three factor XI- deficient patients

Blood coagulation & fibrinolysis, 2008-04, Vol.19 (3), p.240-242

2008

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A focus on dominant negative variants in a series of 170 heterozygous FXI‐deficient patients

Haemophilia : the official journal of the World Federation of Hemophilia, 2023-05, Vol.29 (4), p.1113-1120

2023

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Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families

Blood coagulation & fibrinolysis, 2009-01, Vol.20 (1), p.84-88

2009

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Direct in vitro effects of androgens and estrogens on ob gene expression and leptin secretion in human adipose tissue

Endocrine, 2002-07, Vol.18 (2), p.179-184

2002

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The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (AαCys36Gly, AαCys36Arg and AαCys45Tyr) confirms the role of N-terminal Aα disulfide bonds in protein assembly and secretion

Haematologica (Roma), 2011-08, Vol.96 (8), p.1226-1230

2011

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Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency

Blood coagulation & fibrinolysis, 2006-01, Vol.17 (1), p.69-73

2006

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Leptin mediates a proliferative response in human MCF7 breast cancer cells

Biochemical and biophysical research communications, 2002-04, Vol.293 (1), p.622-628

2002

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Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K)

Haematologica (Roma), 2005-08, Vol.90 (8), p.1149-1150

2005

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The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A{alpha}Cys36Gly, A{alpha}Cys36Arg and A{alpha}Cys45Tyr) confirms the role of N-terminal A{alpha} disulfide bonds in protein assembly and secretion

Haematologica (Roma), 2011-08, Vol.96 (8), p.1226-1230

2011

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Prospective analysis of factor Xl deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families

Blood coagulation & fibrinolysis, 2009, Vol.20 (1), p.84-88

2009

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Aide médicale à la procréation, malformations congénitales et santé postnatale

Revue de médecine périnatale, 2022-06, Vol.14 (2), p.77

2022

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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

Journal of medical genetics, 2023-04, Vol.60 (4), p.337

2023

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New insights into genotype-phenotype correlation for GLI3 mutations

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.92-102

2015

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Phénotype prénatal des microduplications 22q11 : description de 12 nouveaux cas et Revue de la littérature

Morphologie, 2022-09, Vol.106 (354), p.S19-S19

2022

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Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1610-1613

2018

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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

European journal of medical genetics, 2022-02, Vol.65 (2), p.104422, Article 104422

2022

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Karyotype is not dead (yet)

European journal of medical genetics, 2016-01, Vol.59 (1), p.11-15

2016

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Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation

European journal of medical genetics, 2017-07, Vol.60 (7), p.395-398

2017

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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-345, Article 345

2021

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Severe Phenotype in Patients with Large Deletions of NF1

Cancers, 2021-06, Vol.13 (12), p.2963

2021

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Microduplications 22q11.2 typiques et atypiques en fœtopathologie

Morphologie, 2019-11, Vol.103 (342), p.84-85

2019

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A focus on dominant negative variants in a series of 170 heterozygous FXI‐deficient patients

Four novel FXI gene mutations in three factor XI- deficient patients

A focus on dominant negative variants in a series of 170 heterozygous FXI‐deficient patients

Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families

Direct in vitro effects of androgens and estrogens on ob gene expression and leptin secretion in human adipose tissue

The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (AαCys36Gly, AαCys36Arg and AαCys45Tyr) confirms the role of N-terminal Aα disulfide bonds in protein assembly and secretion

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency

Leptin mediates a proliferative response in human MCF7 breast cancer cells

Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K)

The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A{alpha}Cys36Gly, A{alpha}Cys36Arg and A{alpha}Cys45Tyr) confirms the role of N-terminal A{alpha} disulfide bonds in protein assembly and secretion

Prospective analysis of factor Xl deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families

Aide médicale à la procréation, malformations congénitales et santé postnatale

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

New insights into genotype-phenotype correlation for GLI3 mutations

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

Phénotype prénatal des microduplications 22q11 : description de 12 nouveaux cas et Revue de la littérature

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

Karyotype is not dead (yet)

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Severe Phenotype in Patients with Large Deletions of NF1

Microduplications 22q11.2 typiques et atypiques en fœtopathologie

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