O. Raoul

发表

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

S. Romana, M. Lelorc'h, M. Vekemans, 2002, American journal of medical genetics.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

A. Munnich, M. Vekemans, M. D. de Blois, 2003, Journal of medical genetics.

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

A. Munnich, A. Toutain, A. Verloes, 2005, European Journal of Human Genetics.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

S. Romana, M. Vekemans, M. Prieur, 2006, European journal of medical genetics.

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

Cystathionine beta synthase: gene dosage effect in trisomy 21.

M. Rethoré, O. Raoul, D. Allard, 1985, Biochemical and biophysical research communications.

Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

B. Dutrillaux, J. Couturier, O. Raoul, 1979, Human Genetics.

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.

N. Boddaert, S. Lyonnet, J. Amiel, 2009, Clinical dysmorphology.

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.

A. Munnich, S. Lyonnet, M. Vekemans, 1999, American journal of human genetics.

Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221

M. Rethoré, O. Raoul, D. Allard, 2004, Human Genetics.

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

A. Munnich, G. Pinto, L. Faivre, 2005, European Journal of Human Genetics.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

A. Munnich, D. Lacombe, S. Lyonnet, 2003, Journal of medical genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

B. Dutrillaux, J. Lejeune, O. Raoul, 1976, Annales de genetique.

[Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].

J. Lejeune, M. Rethoré, O. Raoul, 1975, Annales de genetique.

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.

J L Blouin, O Raoul, S. Antonarakis, 1994, American journal of human genetics.

Understanding theMechanism(s) ofMosaicTrisomy21by UsingDNA Polymorphism Analysis

D. Avramopoulos, J. Blouin, M. Prieur, 1994 .

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

M. McInnis, A. Chakravarti, S. Antonarakis, 1992, American journal of human genetics.

TheMeiotic StageofNondisjunction inTrisomy21: Determination byUsingDNA Polymorphisms

S. Schwartz, F. Greenberg, O. Raoul, 1992 .

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

A. Munnich, A. Aurias, S. Romana, 2001, Clinical genetics.

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

R Redon, D Sanlaville, L Colleaux, 2006, Journal of Medical Genetics.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

M. Bourgeois, R. Nabbout, A. Kaminska, 2021, Clinical Neurophysiology.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

spectrum disorders rearrangements in patients with syndromic autism identifies high frequency of cryptic chromosomal Array-based comparative genomic hybridisation

R. Redon, S. Lyonnet, M. Vekemans, 2006 .

Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

R. Redon, A. Munnich, D. Bacq, 2004, Clinical genetics.

[Congenital cataract linked to the Y chromosome].

J. Crouzet, J. Feingold, O. Raoul, 1979, Journal de genetique humaine.

[Ring-shaped chromosome 11 (46, XX, r11). A new case].

O. Raoul, J. Retbi, M. Allemon, 1981, La Nouvelle presse medicale.

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.

E. Vilain, M. Fellous, K. McElreavey, 1995, Human molecular genetics.

Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21).

G. Ponsot, J. Lejeune, M. Rethoré, 1992, American journal of medical genetics.

DNA polymorphism analysis in families with recurrence of free trisomy 21.

S. Antonarakis, C. Talbot, M. Rethoré, 1992, American journal of human genetics.

Phenotype-karyotype correlations in dup(18q): report of a case and review.

O. Raoul, C. Danan, M. Lescs, 1985, American journal of medical genetics.

Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome

A. Munnich, M. Zilbovicius, N. Boddaert, 2008 .

[X chromosome fragility and effects of trimethoprim].

J. Lejeune, M. Rethoré, O. Raoul, 1982, Annales de genetique.