M. Chéry

发表

Prenatal diagnosis of Williams syndrome based on ultrasound signs

J. Cloez, B. Gilbert-Dussardier, Dorothée Krzeminska, 2009, Prenatal diagnosis.

Interstitial deletion of the long arm of chromosome 11.

C. Dozier, D. Stéhelin, M. Chéry, 1987, Annales de genetique.

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

A. Monaco, C. Philippe, P. Jonveaux, 1998, Journal of medical genetics.

Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas.

A. Hanauer, M. Teboul, F. Boman, 1990, Oncogene.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

C. Philippe, M. Fardeau, F. Tomé, 1994, American journal of medical genetics.

Distal trisomy 14q

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

(pl 1.2q21.3) associated with mental retardation using FISH

A. Monaco, C. Philippe, P. Jonveaux, 2022 .

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe

P. Camus, M. Chéry, S. Gilgenkrantz, 1996, Human Genetics.

Chromosomal mapping of the human (MACS) and mouse (Macs) genes encoding the MARCKS protein.

D. Stumpo, P. Blackshear, M. Seldin, 1992, Genomics.

De novo methylation of tumour suppressor genes CDKN2A and CDKN2B is a rare finding in B‐cell chronic lymphocytic leukaemia

P. Jonveaux, P. Lederlin, V. Martel, 1997, British journal of haematology.

Mosaic tetrasomy 12p

M. Prieur, B. Foliguet, P. Droullé, 1985, Clinical genetics.

Monosomy 21q: two cases of del(21q) and review of the literature

J. Huret, C. Philippe, M. Chéry, 1995, Clinical genetics.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

M. Fardeau, J. Gouyon, N. Dahl, 1995, American journal of human genetics.

A high-resolution interval map of the q21 region of the human X chromosome.

A. Monaco, F. Cremers, H. Ropers, 1995, Genomics.

Chromosome rearrangements and human gene mapping.

C. Philippe, M. Chéry, S. Gilgenkrantz, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

J. Mandel, A. Hanauer, R. Fujita, 1990, American journal of human genetics.

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1

O. Triolo, B. Dallapiccola, G. Novelli, 1990, Human Genetics.

The Noonan syndrome. The Nancy experience revisited.

C. Philippe, M. Chéry, S. Gilgenkrantz, 1993, Genetic counseling.

Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.

F. Cremers, H. Ropers, C. Philippe, 1993, Genomics.

[Union of 2 carriers of a balanced translocation. Familial study of 3 generations].

C. Defèche, M. Chéry, S. Gilgenkrantz, 1985, Annales de Genetique.

Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

P. Bénit, A. Munnich, S. Lyonnet, 1993, Prenatal diagnosis.

[Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)].

M. Teboul, M. Chéry, S. Gilgenkrantz, 1989, Journal de genetique humaine.

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

J. Mandel, C. Philippe, A. Hanauer, 1994, Human Genetics.