Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jean-Louis Taillemite"'
Autor:
Marie-France Portnoï, Azarnouche Ardalan, Gilles Roger, Jean-Louis Taillemite, Francis Gold, Nicolas Gruchy, Sarah Ducrocq, Lina Finkel, Valérie Malan, Valérie Biran-Mucignat, Sandrine Marlin, Fanny Lebas
Publikováno v:
American Journal of Medical Genetics Part A. :47-51
Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to ha
Autor:
Damien Sanlaville, Marie-France Portnoï, François Vialard, Azarnouche Ardalan, Alain Corré, Bernard Devauchelle, Valérie Malan, Tanguy Martin-Denavit, Marc Nouchy, François Thépot, Patrice Nizard, Luce Vue-Droy, Jean-Louis Taillemite
Publikováno v:
American Journal of Medical Genetics Part A. :325-330
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Autor:
Nouha Bouayed-Abdelmoula, François Vialard, Jamel Chelly, Julie Stephann, Myriam Mirc, Patrick Daoud, Ramzi Zemni, Marc Nouchy, Henry Castaing, Jean-Louis Taillemite, Azarnouche Ardalan, Marie-France Portnoï
Publikováno v:
Clinical Genetics. 58:116-122
We describe a female infant with severe abnormal phenotype with a de novo partial duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in si
Autor:
Nouha Bouayed Abdelmoula, Christine Perot, Jean Louis Taillemite, Jacqueline Van Den Akker, Marie France Portnoi, Barbara Tourniaire, Judith Landman Pakker, Patrice Josset, Liliane Boccon-Gibod, Martine Peters, Olivier Delattre
Publikováno v:
Cancer Genetics and Cytogenetics. 163:186-188
Autor:
N. Joye, Marie Gonzales, Marie-Hélène Saint Frison, Alain Verloes, Férechté Encha-Razavi, Jean-Louis Taillemite, Roland Walbaum, Rudolf Pfeiffer, Odile Bourdet, Chantal Perrotez, Pierre Maroteaux
Publikováno v:
American journal of medical genetics. Part A. (4)
We report on four patients from three families, with similar radiological findings: absent (or severely delayed) ossification of vertebral bodies and associated anomalies. The babies were stillborn or died soon after birth of respiratory insufficienc
Autor:
Damien, Sanlaville, François, Vialard, François, Thépot, Luce, Vue-Droy, Azarnouche, Ardalan, Patrice, Nizard, Alain, Corré, Bernard, Devauchelle, Tanguy, Martin-Denavit, Marc, Nouchy, Valérie, Malan, Jean-Louis, Taillemite, Marie-France, Portnoï
Publikováno v:
American journal of medical genetics. Part A. (3)
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal
Autor:
Dominique Leroux, Jean Louis Taillemite, Nicole Véronique Smadja, Sylvie Taviaux, Catherine Arnould, Christian Bastard, Jean Soulier, Sylvie Dumont
Publikováno v:
Genes, chromosomescancer. 38(3)
Translocations involving the immunoglobulin heavy-chain genes are frequent in multiple myeloma (MM), which can be separated into two groups according to the chromosome number pattern. 14q32 translocations 14q32t are more frequent in hypodiploid than
Autor:
Marie-France Portnoï, Michel Bahuau, Jean-Louis Taillemite, François Vialard, Claude Houdayer, Marie-Paule Vazquez, Cécile Crumière, Rémy Couderc, Véronique Soupre
Publikováno v:
American journal of medical genetics. 102(3)
Pierre Robin sequence (PRS) consists of the nonrandom association of micrognathia, cleft palate (CP), and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic de
Autor:
Valérie Malan, François Vialard, Jacqueline Selva, Marie-France Portnoï, Marc Nouchy, Jean-Louis Taillemite
Publikováno v:
Fertility and Sterility. 86:1001.e1-1001.e5
Objective To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia. Design Case report with review of the scientific literature. Setting Cytogenetics department. Pati
Autor:
Nicole Véronique Smadja, Dominique Leroux, Jean Soulier, Sylvie Dumont, Catherine Arnould, Sylvie Taviaux, Jean Louis Taillemite, Christian Bastard
Publikováno v:
Genes, Chromosomes & Cancer; Nov2003, Vol. 38 Issue 3, p234-239, 6p