Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

Autor: Catherine D. Kashork, André Mégarbané, Bassem A. Bejjani, Martine Le Merrer, Sélim Jambart, Lisa G. Shaffer, Noëlle Souraty

Publikováno v: American Journal of Medical Genetics. 108:69-74

Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, crypto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::03e431c0315168240811476f9ee57171
https://doi.org/10.1002/ajmg.10222

ESPE Bulletin Board

Autor: Jacques Loiselet, Paolo Simi, Giampiero I. Baroncelli, Véronique Tardy, L. Cinquanta, Anna Wedell, Birgitta Byström, Silvano Bertelloni, Yvonne Lundberg Giwercman, Eliane Chouery, Jan Alm, André Mégarbané, Angelika Mohn, Kristina Lindsten, Georges Halaby, Åke Pousette, Eliane Khallouf, Jørgen Knudtzon, Simona Rossi, Michaela F. Hartmann, Andrej Nikoshkov, Michal Svoboda, Stefan A. Wudy, Giuseppe Saggese, Yves Morel, Francesco Chiarelli, Valérie Delague, Francesca Santilli, Noëlle Souraty

Publikováno v: Hormone Research in Paediatrics. 53:104-108

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38fc7928b4ae0a660ece4afc7863f192
https://doi.org/10.1159/000023521

Chromosome 7q22-q31 duplication: Report of a new case and review

Autor: Catherine Turleau, P. Gosset, Michel Vekemans, André Mégarbané, Jean-Michel Lapierre, Marguerite Prieur, Noëlle Souraty, Jacques Loiselet

Publikováno v: American Journal of Medical Genetics. 95:164-168

We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb99adcdb5deaaac0af9545a544602d2
https://doi.org/10.1002/1096-8628(20001113)95:2<164::aid-ajmg14>3.0.co

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

Autor: Peter Noun, Noëlle Souraty, Claudia Djambas-Khayat, André Mégarbané, Annalisa Frattini, Anna Villa, Gérard Lefranc, Eliane Chouery, Alessandra Pangrazio

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2007, 50 (3), pp.188-199. ⟨10.1016/j.ejmg.2007.01.005⟩
50 (2007): 188–199.
info:cnr-pdr/source/autori:Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Megarbane A./titolo:Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis./doi:/rivista:/anno:2007/pagina_da:188/pagina_a:199/intervallo_pagine:188–199/volume:50

Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis is in the osteoclast, but with heterogeneous molecular defects. We hereby report the clinical and the molecular study of seven patients affected by the recessi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c688c22ac3bf825229f3cc333bae422
https://hal.archives-ouvertes.fr/hal-00149750

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

Autor: J. Bonaventure, Jacques Loiselet, V El Ghouzzi, J Gerbaka, A Mornand, André Mégarbané, Imad Melki, Noëlle Souraty

Publikováno v: Europe PubMed Central

We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba9f8e82f2ca2c842d51862974e183b
https://hal.archives-ouvertes.fr/hal-02342811