J. Vigneron

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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

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.

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

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

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

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

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?

F. Di Rocco, É. Arnaud, O. Klein, 2015, Birth defects research. Part A, Clinical and molecular teratology.

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

J. Lusson, P. Acar, J. Roume, 2015, European Journal of Human Genetics.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

laxa, Debré type Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis

H. Kayserili, W. Dobyns, E. Seemanová, 2009 .

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

S. Mundlos, H. Kayserili, W. Dobyns, 2008, Neurology.

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

H. Dollfus, B. Leheup, C. Stoetzel, 2011, Ophthalmic genetics.

Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

H. Dollfus, J. Danse, F. Veillon, 2009, American journal of medical genetics. Part A.

Distal trisomy 14q

M. Lefranc, M. Teboul, J. Dufier, 1990, Human Genetics.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome.

J. Vigneron, F. Didier, M. Andre, 1981, The Journal of pediatrics.

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

J. Weissenbach, R. Heilig, D. Samson, 1997, Human molecular genetics.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

C. Philippe, P. Jonveaux, M. Bronner, 2012, American journal of medical genetics. Part A.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

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.

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.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

A. Toutain, J. Fryns, A. Verloes, 1998, American journal of medical genetics.

[Unusual facial clefts].

H. Gérard, J. Vigneron, M. Stricker, 1997, Annales de chirurgie plastique et esthetique.

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

C. Bénéteau, C. Philippe, P. Jonveaux, 2011, Journal of Medical Genetics.

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

J. Hascoët, L. Lambert, J. Vigneron, 2012, Clinical dysmorphology.

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

J. Rousselot, J. Vigneron, M. Stricker, 1991, Journal of medical genetics.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

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

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

E. Haan, J. Weissenbach, D. Paslier, 1994, Human molecular genetics.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

J. Bonaventure, C. Philippe, G. Plessis, 1992, Human Genetics.

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

E. Girodon, M. Goossens, M. Legendre, 2010, European Journal of Human Genetics.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.