V. David

发表

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

L. Pasquier, S. Odent, M. Blayau, 2003, Human Genetics.

Non-hyperfunctioning nodules from multinodular goiters: A minor role in pathogenesis for somatic activating mutations in the TSH-receptor and Gsα subunit genes

I. Gicquel, J. L. Le Gall, V. David, 2001, Journal of endocrinological investigation.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

A. Laquérriere, T. Frebourg, S. Coutant, 2018, Acta Neuropathologica Communications.

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

A. Laquérriere, L. Pasquier, P. Marcorelles, 2009, Acta Neuropathologica.

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

L. Pasquier, S. Odent, M. Blayau, 2000, European Journal of Human Genetics.

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.

L. Diambra, Artem Kim, E. Watrin, 2020, Brain : a journal of neurology.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim, Clara Savary, W. Carré, 2018, Brain : a journal of neurology.

Venesection therapy of insulin resistance-associated hepatic iron overload.

P. Brissot, R. Moirand, A. Guillygomarc’h, 2001, Journal of hepatology.

Insulin resistance-associated hepatic iron overload.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Gastroenterology.

Increased body iron stores in elite road cyclists.

F. Zoulim, R. Moirand, J. Vinel, 2002, Medicine and science in sports and exercise.

Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis.

C. Jacquelinet, P. Brissot, R. Moirand, 1998, Gastroenterology.

A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination.

J. Raoul, M. Blayau, J. Campion, 2001, European journal of gastroenterology & hepatology.

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

L. Pasquier, M. Gonzalès, F. Encha-Razavi, 2005, Journal of Medical Genetics.

Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Gastroenterology.

Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people

M. Pouchard, J. Mosser, J. L. Le Gall, 2002, British journal of haematology.

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Journal of hepatology.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

J. J. Pointon, J. Crowe, P. Gasparini, 1999, Nature Genetics.

Phenotypic expression in detected C282Y homozygous women depends on body mass index.

M. Pouchard, J. Mosser, F. Laine, 2005, Journal of hepatology.

Localization of seven new genes around the HLA-A locus.

I. Gicquel, J. L. Le Gall, B. Chauvel, 1994, Advances in experimental medicine and biology.

Localization of seven new genes around the HLA-A locus.

I. Gicquel, J. L. Le Gall, B. Chauvel, 1993, Human molecular genetics.

A YAC contig and an STS map spanning at least 3.9 megabasepairs telomeric to HLA-A

J. Mosser, V. David, A. Hampe, 1997, Immunogenetics.

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

I. Gicquel, N. Garcelon, L. Pasquier, 2011, Journal of Medical Genetics.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, H. Hamdi-Rozé, 2016, Clinical genetics.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families

V. David, J. Legall, P. Adams, 1997, Hepatology.

Disrupted hypothalamo-pituitary axis in association with reduced SHH underlies the pathogenesis of NOTCH-deficiency.

Artem Kim, W. Carré, H. Hamdi-Rozé, 2020, The Journal of clinical endocrinology and metabolism.

Sex and acquired cofactors determine phenotypes of ferroportin disease.

D. Vital-Durand, P. Brissot, O. Loréal, 2011, Gastroenterology.

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload.

P. Fergelot, J. L. Le Gall, P. Brissot, 2003, Journal of hepatology.

A continuous restriction map from HLA-E to HLA-F. Structural comparison between different HLA-A haplotypes

J. L. Le Gall, P. Pontarotti, V. David, 2004, Immunogenetics.

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

I. Gicquel, A. Laquérriere, L. Pasquier, 2013, Molecular Syndromology.

Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.

P. Fergelot, J. Mosser, J. L. Le Gall, 2001, Blood cells, molecules & diseases.

Polymorphisms in the HFE Gene

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Human Heredity.

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

P. Pontarotti, A. Kahloun, J. Yaouanq, 1992, Human Genetics.

Familial screening for genetic haemochromatosis by means of DNA markers.

J. L. Le Gall, P. Pontarotti, J. Yaouanq, 1992, Journal of medical genetics.

[The diagnosis of hemochromatosis in the era of the gene].

P. Brissot, R. Moirand, D. Guyader, 1999, Annales d'endocrinologie.

Dynamic expression of Notch-dependent neurogenic markers in the chick embryonic nervous system

V. Dupé, V. David, L. Ratié, 2014, Front. Neuroanat..

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

I. Gicquel, V. Dupé, S. Mercier, 2012, Disease Models & Mechanisms.

Serum α‐L‐Fucosidase: A New Marker for the Diagnosis of Primary Hepatic Carcinoma?

P. Brissot, M. Bourel, Y. Deugnier, 1984 .

The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural alterations of the ligand or its altered synthesis

S. Bale, A. Paulussen, D. Pineda-Alvarez, 2009, Human mutation.

Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?

P. Fergelot, J. L. Le Gall, Y. Deugnier, 1998, Annales de genetique.

A new polymorphic probe close to HLA-A.

I. Gicquel, P. Pontarotti, V. David, 1991, Nucleic acids research.

An improved source of receptor for 1,25-dihydroxyvitamin D3 assay.

M. Blayau, V. David, G. Leray, 1986, Clinica chimica acta; international journal of clinical chemistry.

A 1200-kilobase transcription map encompassing the D6S105 locus at 6p21.3.

F. Galibert, P. Fergelot, V. Lelaure, 1997, Genomics.

The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism

S. Bale, A. Paulussen, M. Muenke, 2009, Human mutation.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

X. Causse, P. Brissot, S. Cunat, 2013, British journal of haematology.

HLA class I gene polymorphism in genetic hemochromatosis

R. Fauchet, J. Yaouanq, M. Blayau, 1990, Human Genetics.

Colorectal Adenomatous Polyposis Associated with MYH Mutations: Genotype and Phenotype Characteristics

D. Bonneau, B. Buecher, L. Siproudhis, 2007, Diseases of the colon and rectum.

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

L. Pasquier, C. Le Caignec, B. Paniel, 2011, Orphanet journal of rare diseases.

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

S. Mottier, I. Gicquel, L. Pasquier, 2007, Human mutation.

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

I. Gicquel, T. Frebourg, L. Pasquier, 2006, Human Genetics.

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

I. Gicquel, M. Huizing, L. Pasquier, 2005, Journal of Medical Genetics.

Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly*

D. Rognan, S. Odent, C. Dubourg, 2004, Journal of Biological Chemistry.

Phenotypic and molecular variability of the holoprosencephalic spectrum

L. Pasquier, S. Odent, M. Blayau, 2004, American journal of medical genetics. Part A.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

L. Pasquier, S. Odent, M. Blayau, 2004, Human mutation.

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

A. Munnich, M. Vekemans, T. Attié-Bitach, 1999, Human molecular genetics.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

Analysis of genotype–phenotype correlations in human holoprosencephaly

D. Pineda-Alvarez, M. Muenke, B. Solomon, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

J. L. Le Gall, D. Le Lannou, S. Odent, 2000, Molecular human reproduction.

Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

B. Chauvel, M. Blayau, P. Jézéquel, 1996, Human Genetics.

[Biological markers in hepatocellular carcinoma].

J. L. Le Gall, Y. Deugnier, M. Blayau, 1988, Annales de biologie clinique.

Properdin factor B (Bf) polymorphism: Subtyping of SS phenotypes

R. Fauchet, V. David, L. Guenet, 2004, Human Genetics.

Short-term prednisolone followed by recombinant human alpha-interferon alone or combined with adenine-arabinoside in chronic hepatitis B. A prospective and randomized trial.

C. Jacquelinet, G. Lescoat, P. Brissot, 1991, Journal of hepatology.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Laurence Faivre, Claude Bendavid, Alice Goldenberg, 2009, Archives of general psychiatry.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

T. Bohan, I. Gicquel, V. Dupé, 2011, Human molecular genetics.

Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach

J. Mosser, Nicolas Soriano, A. Mckie, 2001, Human Genetics.

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain

H. Hamdi-Rozé, V. Dupé, V. David, 2016, Neural Development.

Human release factor eRF1: structural organisation of the unique functional gene on chromosome 5 and of the three processed pseudogenes

J. Longmire, L. Deaven, J. L. Le Gall, 1999, FEBS letters.

Dinucleotide repeat polymorphism at the D6S510 locus.

V. Lelaure, J. L. Le Gall, V. David, 1994, Human molecular genetics.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

V. Bours, L. Pasquier, A. Lehman, 2020 .

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

A. Toutain, N. Chassaing, W. Carré, 2016, Human mutation.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

S. Auvin, T. Frebourg, N. Le Meur, 2009, Journal of Medical Genetics.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

L. Pasquier, M. Gerard-Blanluet, A. Aboura, 2008, Journal of Medical Genetics.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

I. Gicquel, L. Pasquier, S. Odent, 2007, European journal of medical genetics.

Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases

J. L. Le Gall, C. Dubourg, B. Toutain, 2000, Cytogenetic and Genome Research.

Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog

G. Neri, L. Garavelli, F. Gurrieri, 2004, American journal of medical genetics. Part A.

Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

H. Hamdi-Rozé, Y. Deugnier, V. David, 2019, Blood cells, molecules & diseases.

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development

Michelle Ware, Frédérique Barloy-Hubler, I. Gicquel, 2013, Neural Development.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Barthélémy, S. Julia, A. Toutain, 2014, Molecular Syndromology.

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Olivier Loréal, P. Brissot, O. Loréal, 2009, Haematologica.

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

J. Mosser, P. Brissot, A. Mosser, 2007, American journal of human genetics.

Recent advances in understanding inheritance of holoprosencephaly

Artem Kim, E. Watrin, V. Dupé, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)

B. Chauvel, J. Yaouanq, J. Feingold, 2004, Human Genetics.

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

M. Worwood, Jennifer J. Pointon, K. Robson, 2004, Journal of Medical Genetics.

The HFE gene undergoes alternate splicing processes.

P. Fergelot, J. Mosser, I. Gicquel, 2000, Blood cells, molecules & diseases.

Haemochromatosis and HLA–H

P. Fergelot, J. Mosser, I. Gicquel, 1996, Nature Genetics.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

W. Carré, H. Hamdi-Rozé, L. Pasquier, 2019, Human Genetics.

Bf Polymorphism Studied by Isoelectrofocusing

R. Fauchet, V. David, M. Guéguen, 1984 .

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Steve D. M. Brown, Thomas M. Keane, Iain M. Dykes, 2018, Scientific Reports.

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20

S. Odent, H. Journel, M. Blayau, 1993, Human Genetics.

Serum lysosomal acid hydrolase activities in Graves' disease.

J. L. Le Gall, V. David, A. Le Treut, 1982, Clinica chimica acta; international journal of clinical chemistry.

Recurrent rearrangements in synaptic and neurodevelopmental genes 1 support the existence of shared biological pathways 2 between Schizophrenia , Autism and Mental Retardation

D. Campion, C. Barthélémy, V. Drouin‐Garraud, 2008 .

Cloning of a human homologue of the mouseTctex-5 gene within theMHC class I region

P. Pontarotti, P. Jézéquel, M. Lepourcelet, 2007, Immunogenetics.

A new non-HLA multigene family associated with thePERB11 family within theMHC class I region

V. David, A. Hampe, T. Giffon, 2007, Immunogenetics.

Physical map of theHLA-A/HLA-F subregion and identification of two new coding sequences

B. Chauvel, A. Kahloun, V. David, 2004, Immunogenetics.

[Genetic study of holoprosencephaly].

L. Pasquier, S. Odent, M. Blayau, 2003, Annales de biologie clinique.

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

J. Mosser, J. Andrieux, C. Treguier, 2011, American journal of medical genetics. Part A.

Our current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

D. Pineda-Alvarez, M. Muenke, C. Dubourg, 2010 .

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

P. Fergelot, J. Yaouanq, V. David, 1997, Human Genetics.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

A. Laquérriere, T. Frebourg, S. Coutant, 2018, Acta neuropathologica communications.

[Alpha-L-fucosidase. A new marker of primary liver cancer?].

P. Brissot, M. Bourel, Y. Deugnier, 1983, Presse medicale.

Array‐CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

J. Mosser, I. Gicquel, A. Laquérriere, 2009, Human mutation.

Holoprosencephaly: An update on cytogenetic abnormalities

I. Gicquel, V. Dupé, C. Dubourg, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical utility gene card for: Holoprosencephaly

D. Pineda-Alvarez, A. Gropman, M. Muenke, 2011, European Journal of Human Genetics.

DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

I. Gicquel, R. Fauchet, M. Simon, 1986, Human Genetics.

J. Renversez, Y. Deugnier, J. Corberand, 2001, Annales de biologie clinique.

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

M. Babron, W. Carré, C. Mouden, 2015, PloS one.

Polymorphism in a ferritin H gene from chromosome 6p

L. Powell, E. Zappone, V. David, 1991, Human Genetics.

Ferritin H gene polymorphism in idiopathic hemochromatosis

M. Simon, L. Abel, J. Yaouanq, 2004, Human Genetics.

Structural analysis of the HLA-A/HLA-F subregion: precise localization of two new multigene families closely associated with the HLA class I sequences.

J. Mosser, B. Chauvel, M. Lepourcelet, 1996, Genomics.

A second human ferritin H locus on chromosome 11.

M. Worwood, C. Jones, E. Zappone, 1992, Cytogenetics and cell genetics.

Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.

M. Polak, P. Czernichow, G. Szinnai, 2006, The Journal of clinical endocrinology and metabolism.

OP-BRAI180292 35..49

Artem Kim, Clara Savary, W. Carré, 2018 .

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype

P. Brissot, O. Loréal, A. Mosser, 2013, Human mutation.

HFE mutations in insulin resistance-associated hepatic iron overload.

R. Moirand, A. Guillygomarc’h, Y. Deugnier, 2000, Journal of hepatology.

Serum alpha-L-fucosidase: a new marker for the diagnosis of primary hepatic carcinoma?

P. Brissot, M. Bourel, Y. Deugnier, 1984, Hepatology.

H. Hamdi-Rozé, Y. Deugnier, V. David, 2018 .

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Steve D. M. Brown, Thomas M. Keane, Iain M. Dykes, 2018, Scientific Reports.

A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.

R. Fauchet, G. Edan, M. Simon, 1987, American journal of human genetics.

Dinucleotide repeat polymorphism at the FTHPI locus of chromosome 6.

J. L. Le Gall, M. Blayau, V. David, 1991, Nucleic acids research.

A HindIII RFLP at the FTHP1 locus on chromosome 6

V. Mauvieux, I. Dugast, A. El Kahloun, 1991, Nucleic Acids Res..

A human homologue to the yeast omnipotent suppressor 45 maps 100 kb centromeric to HLA-A

P. Fergelot, I. Gicquel, B. Chauvel, 1995, Immunogenetics.

HFE based re-evaluation of heterozygous hemochromatosis.

J. L. Le Gall, P. Brissot, R. Moirand, 2002, American journal of medical genetics.

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

S. Odent, P. Poulain, C. Dubourg, 2011, European journal of medical genetics.