Výsledky vyhledávání - "Marie Françoise Croquette"

[Untitled]

Autor: Concetta Federico, Giorgio Bernardi, Salvatore Saccone, Marie-Françoise Croquette, Irina Solovei, Giuliano Della Valle

Publikováno v: Chromosome Research. 7:379-386

The human genome is a mosaic of long, compositionally homogeneous DNA segments, the isochores, that can be partitioned into five families, two GC-poor families (L1 and L2), representing 63% of the genome, and three GC-rich families (H1, H2 and H3), r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::666cedc32d7635493fbe7477662c61a0
https://doi.org/10.1023/a:1009220131225

Zobrazit plný text záznamu

Genotype–phenotype relationship in female carriers of the premutation and full mutation of FMR-1

Autor: Fritz Poustka, Olaf Weiffenbach, Valérie Biancalana, Pascale Cornillet-Lefebre, Petra Franke, Ursula Froster, Marie Françoise Croquette, Sibylle G. Schwab, Michael Gänsicke, Marion Leboyer, Martin Hautzinger, Wolfgang Maier

Publikováno v: Psychiatry Research. 80:113-127

The present French–German cooperative study focuses on the genotype–phenotype relationship of mutations of the FMR-1 gene and psychiatric conditions in mothers with a full mutation in the FMR-1 gene of fra-X children ( n =13), mothers with a prem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73eab698aa53e50950f92182c3554418
https://doi.org/10.1016/s0165-1781(98)00055-9

Zobrazit plný text záznamu

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG Island, and no clear phenotypic association

Autor: Marie Françoise Croquette, Marie Geneviève Mattei, Jean-Louis Mandel, M. A. Voelckel, I. Oberlé, Joëlle Boué

Publikováno v: American Journal of Medical Genetics. 43:224-231

We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation anomalies typically seen in the fragile X [Fra(X)] syndrome. In one family, a folate insensitiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c94d1dbd8500e90f5215e887040d6d
https://doi.org/10.1002/ajmg.1320430136

Zobrazit plný text záznamu

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Autor: Laurence Taine, Dominique Aubert, Fabienne Giraudeau, Dominique Bonneau, Bruno Delobel, Valérie Biancalana, Annick Toutain, Gilles Vergnaud, Marie Geneviève Mattei, Albert David, Hubert Journel, Hervé Avet Loiseau, Yolande Hauck, Chantal Missirian, Didier Lacombe, Philippe Parent, Marie Françoise Croquette

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2001, 38 (2), pp.121-5. ⟨10.1136/jmg.38.2.121⟩
Journal of Medical Genetics, 2001, 38 (2), pp.121-5. ⟨10.1136/jmg.38.2.121⟩

Editor—Mental retardation is a component of a large number of syndromes, most of which qualify individually as rare genetic diseases. Altogether, mental retardation affects 2-3% of the population and is unexplained in 40% of cases. According to Kni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd80d1d8d8eff209072701e6c0a4e8d

Zobrazit plný text záznamu

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

Autor: Louis Vallée, Giorgio Pini, Marc Tardieu, Valérie Delannoy, Michele Zapella, Bruno Delobel, Marie Françoise Croquette

Publikováno v: American journal of medical genetics. 80(3)

We report on an interstitial duplication of the long arm of chromosome 11 [46XX,dup(11) (q23.3)] in a girl with atypical Rett syndrome (RS). This case was discovered during a systematic cytogenetic study of RS. Fluorescent in situ hybridization inclu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99c6611fc47e051b0e0bdc1ec68b3e63
https://pubmed.ncbi.nlm.nih.gov/9843053

Zobrazit plný text záznamu

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

Autor: Sandra Blumenfeld, I. Oberlé, Niels Tommerup, Célia Delozier-Blanchet, Dominique Heitz, Marie Françoise Croquette, Carl Birger van der Hagen, François Rousseau, Jean-Louis Mandel, Valérie Biancalana, Pierre Jalbert, Simon Gilgenkrantz, Christine Kretz, Marie-Antoinette Voelckel, Joelle Boué

Publikováno v: The New England journal of medicine. 325(24)

The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome (in Xq27.3). Affected persons have both a full mutation and abnormal DNA methyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17026e6488c812e1122dd3705a6deb7b
https://pubmed.ncbi.nlm.nih.gov/1944474

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání