P. Sarda

发表

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

M. Cossée, J. Mandel, A. Verloes, 2005, European Journal of Human Genetics.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

C. Rooryck, G. Lefort, P. Jonveaux, 2013, European Journal of Human Genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

A. Mégarbané, G. Lefranc, M. Claustres, 2012, European Journal of Human Genetics.

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency

H. Liany, A. Hillmer, K. H. Utami, 2014, Human mutation.

GC-MS-based urine metabolic profiling of autism spectrum disorders

C. Barthélémy, P. Vourc'h, C. Andres, 2013, Analytical and Bioanalytical Chemistry.

Combined 1H-NMR and 1H-13C HSQC-NMR to improve urinary screening in autism spectrum disorders.

C. Andres, F. Bonnet-Brilhault, L. Nadal-Desbarats, 2014, The Analyst.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

G. Lefort, J. Puechberty, C. Coubes, 2008, Prenatal diagnosis.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

Identification of proteomic changes during human liver development by 2D-DIGE and mass spectrometry.

J. Pascussi, J. Ramos, E. Assenat, 2009, Journal of hepatology.

Early prenatal diagnosis of ICF syndrome by mutation detection

G. Lefort, M. Rigolet, E. Viégas-Péquignot, 2007, Prenatal diagnosis.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

F. Plewniak, T. de Ravel, R. Lewis, 2007, American journal of human genetics.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Chromosome 12 Open Reading Frame 58

Laurier, J. Mandel, E. Davis, 2006 .

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.

D. Le Paslier, A. Toutain, A. Bozio, 1997, Journal of molecular and cellular cardiology.

Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm.

S. Bhatt, K. Mrasek, T. Liehr, 2007, Molecular human reproduction.

Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis

S. Bhatt, K. Mrasek, T. Liehr, 2013, Cytogenetic and Genome Research.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

J. Thevenon, L. Faivre, Y. Duffourd, 2018, American journal of medical genetics. Part A.

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

T. Maudelonde, P. Pujol, P. Sarda, 2004, Cancer genetics and cytogenetics.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

G. Lefort, Christian Jorgensen, J. Puechberty, 2012, European Journal of Human Genetics.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

A. Munnich, L. Al-Gazali, S. Bellais, 2007, American journal of human genetics.

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

J. Sarles, M. Claustres, P. Sarda, 2004, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

V. Drouin‐Garraud, D. Lacombe, Y. Bignon, 2003, The Journal of investigative dermatology.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

W. Reardon, R. Touraine, A. Toutain, 2007, American journal of human genetics.

Deletions at the SOX 10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

W. Reardon, R. Touraine, A. Toutain, 2007 .

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

L. Faivre, G. Lefort, C. Thauvin-Robinet, 2011, Prenatal diagnosis.

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.

A. Verloes, C. Curry, P. Blanchet, 1998, Journal of medical genetics.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Analysis of sperm aneuploidy by PRINS.

G. Lefort, J. Puechberty, F. Pellestor, 2006, Methods in molecular biology.

Complex chromosomal rearrangements: origin and meiotic behavior.

T. Liehr, G. Lefort, J. Puechberty, 2011, Human reproduction update.

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.

S. Bhatt, G. Lefort, J. Puechberty, 2006, Human reproduction.

Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases.

S. Bhatt, G. Lefort, J. Puechberty, 2006, Human reproduction.

Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting.

M. Claustres, S. Hamamah, F. Pellestor, 2005, Human reproduction.

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.

T. Liehr, G. Lefort, J. Puechberty, 2011, Fertility and sterility.

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

A. Toutain, D. Cohen, A. Verloes, 2012, PloS one.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

mutations COH1 due to Broader geographical spectrum of Cohen syndrome

K. Kosaki, A. Bodell, P. Sarda, 2005 .

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

C. Walsh, K. Kosaki, G. Mochida, 2004, Journal of Medical Genetics.

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase

M. Mitchell, M. Mattéi, A. Mégarbané, 2006, Journal of Cell Science.

Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.

R. Tenconi, P. Bouvagnet, P. Sarda, 1997, American journal of medical genetics.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation

G. Lefort, J. Demaille, F. Pellestor, 2001, Journal of medical genetics.

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

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

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test

B. Echenne, M. Claustres, C. Bareil, 1998, Human Genetics.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

A. Mégarbané, G. Lefranc, M. Claustres, 2011, PloS one.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure

P. Benos, I. Touitou, G. Lefort, 2009, Clinical Genetics.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

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

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

First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers.

M. Claustres, J. Demaille, S. Hamamah, 2003, Molecular human reproduction.

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms

G. Lefort, J. Puechberty, C. Coubes, 2006, Prenatal diagnosis.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

S. Bhatt, K. Mrasek, T. Liehr, 2009, European Journal of Human Genetics.

Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.

F. Rivier, G. Lefort, J. Demaille, 2002, American journal of medical genetics. Part A.

Interstitial deletion of the distal long arm of chromosome 4.

J. Fryns, G. Lefort, P. Sarda, 1992, Journal of medical genetics.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

G. Lefort, E. Decker, J. Puechberty, 2013, European Journal of Human Genetics.

Le syndrome de Prader-Willi

P. Sarda, 2013 .

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

A. Durr, D. Hannequin, A. Brice, 2017, Brain : a journal of neurology.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France

N. Nagot, P. Sarda, P. Amedro, 2019, American journal of medical genetics. Part A.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.

P. Devaux, G. Lefort, P. Sarda, 1992, Annales de genetique.

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

F. Rivier, D. Bozon, V. des Portes, 2011, Mitochondrion.

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

J. Laplanche, A. Verloes, C. Herlin, 2013, European Journal of Human Genetics.

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

Haíssam Rahil, G. Lefort, P. Blanchet, 2009, Prenatal diagnosis.

Fetal diagnosis of toxoplasmosis in 190 women infected during pregnancy

F. Pratlong, P. Sarda, P. Boulot, 1994, Prenatal diagnosis.

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Y. Wada, E. Schaftingen, S. Mahmood, 2013, American journal of human genetics.

Prevalence of HFE mutations in people from North Africa living in southern France

M. Picot, F. Montoya, J. Schved, 2001, British journal of haematology.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

PHENOTYPIC AND CYTOGENETIC VARIETY OF PURE PARTIAL TRISOMY OF CHROMOSOME 16P

G. Lefort, J. Puechberty, F. Pellestor, 2009 .

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

B. Ponder, A. Munnich, L. Mulligan, 1994, Human molecular genetics.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

1 H-13 C NMR-based urine metabolic profiling in autism spectrum disorders

C. Barthélémy, C. Andres, F. Bonnet-Brilhault, 2018 .

NMR-based urine metabolic profiling in autism spectrum disorders

C. Barthélémy, C. Andres, F. Bonnet-Brilhault, 2017 .

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

T. van Amelsvoort, D. Campion, N. Philip, 2007, Psychiatric genetics.

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

C. Barthélémy, P. Vourc'h, C. Andres, 2013, Talanta.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.

G. Lefort, P. Blanchet, P. Sarda, 1993, Genetic counseling.

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

H. Dollfus, C. Hamel, M. Holder, 2011, Clinical journal of the American Society of Nephrology : CJASN.

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

T. Frebourg, Valentina Quarantotti, G. Lefort, 2014, American journal of medical genetics. Part A.

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.

A. Toutain, C. Houdayer, G. Lefort, 1993, Annales de genetique.

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

A. Toutain, C. Houdayer, G. Lefort, 1993, Annales de genetique.

Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues.

A. Malafosse, C. Moraine, V. Biancalana, 1999, Journal of neuropathology and experimental neurology.