Search Results - "Souraty, Noëlle"

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis by Souraty, Noëlle, Noun, Peter, Djambas-Khayat, Claudia, Chouery, Eliane, Pangrazio, Alessandra, Villa, Anna, Lefranc, Gérard, Frattini, Annalisa, Mégarbané, André

“…Abstract Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis is in the osteoclast, but with heterogeneous molecular…”
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Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q by Souraty, Noëlle, Sanlaville, Damien, Chédid, Rima, Le Lorc'h, Marc, Maurin, Marie-Laure, Ghanem, Lola, Maalouf, Sabine, Vekemans, Michel, Mégarbané, André

“…Abstract We report on a baby girl from non-consanguineous Palestinian parents with intrauterine growth retardation, low birth weight, and developmental delay…”
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Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase by Delague, V, Souraty, N, Khallouf, E, Tardy, V, Chouery, E, Halaby, G, Loiselet, J, Morel, Y, Mégarbané, A

“…Molecular defects in the gene encoding steroid 21-hydroxylase (CYP21) result in impairment of adrenal steroid synthesis in patients affected with…”
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Overlap between Baller-Gerold and Rothmund-Thomson syndrome by Mégarbané, A, Melki, I, Souraty, N, Gerbaka, J, El Ghouzzi, V, Bonaventure, J, Mornand, A, Loiselet, J

“…We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first…”
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Biochemical identities and differences among Leishmania species and subspecies by Kreutzer, R D, Souraty, N, Semko, M E

“…An analysis was presented for identification of 20 species and subspecies of Leishmania by cellulose acetate electrophoresis data from the enzymes glucose…”
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Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation by Mégarbané, André, Bejjani, Bassem A., Shaffer, Lisa G., Jambart, Sélim, Souraty, Noelle, Kashork, Catherine D., Le Merrer, Martine

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Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation by Mégarbané, André, Bejjani, Bassem A., Shaffer, Lisa G., Jambart, Sélim, Souraty, Noelle, Kashork, Catherine D., Le Merrer, Martine

“…Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing,…”
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