M. de Blois

发表

[Recombination between the fragile site Xq27 and the gene for coagulation factor IX].

J. Lejeune, M. Rethoré, G. Lucotte, 1985, Annales de Genetique.

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.

[Thyroid function and trisomy 21. TSH increase and rT3 deficiency].

J. Lejeune, M. Rethoré, M. Peeters, 1988, Annales de genetique.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

Y. Ville, J. Bernard, M. Vekemans, 2013, European journal of medical genetics.

Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome

A. Munnich, L. Faivre, S. Romana, 2003, American journal of medical genetics. Part A.

Characterization of a human ovarian adenocarcinoma line, IGROV1, in tissue culture and in nude mice.

J. da Silva, G. Riou, P. Duvillard, 1985, Cancer research.

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

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

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

A. Munnich, L. Faivre, S. Jacquemont, 2002, Journal of medical genetics.

PMX2B, a new candidate gene for Hirschsprung's disease

M. Vekemans, J. Amiel, B. Laudier, 2003, Clinical genetics.

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.

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.

β1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

A. Munnich, J. Souberbielle, A Munnich, 2003 .

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

S. Lyonnet, M. Vekemans, J. Andrieux, 2007, Journal of Medical Genetics.

[Metabolism of monocarbons and trisomy 21: sensitivity to methotrexate].

J. Lejeune, M. Rethoré, L. Nicolle, 1986, Annales de genetique.

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

A. Munnich, M. Vekemans, M. Prieur, 2007, Clinical genetics.

Down syndrome and 3,3',5'-triiodothyronine.

J. Lejeune, M. Rethoré, M. Peeters, 1990, American journal of diseases of children.

[Amino acids and trisomy 21].

A. Mégarbané, D. Rabier, J. Lejeune, 1992, Annales de genetique.

[Infantile psychosis, pseudo-Alzheimer syndrome, and trisomy 21. A trial of treatment with folinic acid: preliminary report].

J. Lejeune, M. Rethoré, M. Peeters, 1989, Therapie.