Search Results - "LATIFA HILAL"

A homozygous insertion-deletion in the type VII collagen gene ( COL7A1 ) in Hallopeau-Siemens dystrophic epidermolysis bullosa by Blanchet-Bardon, Claudine, Rochat, Ariane, Christiano, Angela M, Duquesnoy, Philippe, Hilal, Latifa, Wechsler, Janine, Hovnanian, Alain, Barrandon, Yann, Uitto, Jouni, Martin, Nadine, Goossens, Michel

“…The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a life-threatening autosomal disease characterized by loss of…”
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Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa by HOVNANIAN, A, LATIFA HILAL, BLANCHET-BARDON, C, DE PROST, Y, CHRISTIANO, A. M, UITTO, J, GOOSSENS, M

“…The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease…”
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Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature by Pantel, Jacques, Legendre, Marie, Cabrol, Sylvie, Hilal, Latifa, Hajaji, Yassir, Morisset, Séverine, Nivot, Sylvie, Vie-Luton, Marie-Pierre, Grouselle, Dominique, de Kerdanet, Marc, Kadiri, Abdelkrim, Epelbaum, Jacques, Le Bouc, Yves, Amselem, Serge

“…The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown…”
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Genotype-Phenotype Correlation in Moroccan Patients With Primary Congenital Glaucoma by Berraho, Amina, Serrou, Aziza, Fritez, Nabila, El Annas, Abdessamad, Bencherifa, Fatiha, Gaboun, Fatima, Hilal, Latifa

“…PURPOSE:To investigate the genotype-phenotype correlation in a large cohort of Moroccan primary congenital glaucoma (PCG) in which CYP1B1 mutation spectrum was…”
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Cytogenetic Profile of Moroccan Pediatric Acute Lymphoblastic Leukemia: Analysis of 155 Cases With a Review of the Literature by Chebihi, Zahra Takki, Belkhayat, Aziza, Chadli, Elbekkay, Hilal, Latifa, Skhoun, Hanaa, Hessissen, Laila, El Khorassani, Mohamed, El Kababri, Maria, Kili, Amina, Khattab, Mohammed, Bakri, Youssef, Dakka, Nadia

“…The purpose of the present study was to define the frequency of chromosomal abnormalities in 155 Moroccan patients with acute lymphoblastic leukemia referred…”
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Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism by Fritez, Nabila, Sobrier, Marie-Laure, Iraqi, Hinde, Vié-Luton, Marie-Pierre, Netchine, Irène, El Annas, Abdessamad, Pantel, Jacques, Collot, Nathalie, Rose, Sophie, Piterboth, William, Legendre, Marie, Chraibi, Abdelmjid, Amselem, Serge, Kadiri, Abdelkrim, Hilal, Latifa

“…Summary Background/Objectives Congenital hypopituitarism is a rare disease which, for most patients, has no identified molecular cause. We aimed to document…”
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Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1 by Hilal, Latifa, Boutayeb, Soraya, Serrou, Aziza, Refass-Buret, Loubna, Shisseh, Hafsa, Bencherifa, Fatiha, El Mzibri, Mohammed, Benazzouz, Bouchra, Berraho, Amina

“…To investigate the contribution of cytochrome P4501B1 (CYP1B1) and myocillin (MYOC) mutations to primary congenital glaucoma (PCG) in Moroccan families. This…”
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Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts by Nandrot, E, Slingsby, C, Basak, A, Cherif-Chefchaouni, M, Benazzouz, B, Hajaji, Y, Boutayeb, S, Gribouval, O, Arbogast, L, Berraho, A, Abitbol, M, Hilal, L

“…Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts…”
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Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene by Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure

“…Isolated growth hormone deficiency (IGHD) may be of genetic origin. One of the few genes involved in that condition encodes the growth hormone releasing…”
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C634R mutation of the protooncongene RET and molecular diagnosis in multiple endocrine neoplasia type 2 in a large Moroccan family by Benazzouz, Bouchra, Hafidi, Aïcha, Benkhira, Saïd, Chraibi, Abdelmajid, Kadiri, Abdelkrim, Hilal, Latifa

“…Multiple endocrine neoplasia (MEN) 2A is an inherited disease characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma and/or…”
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Mutation C634R du proto-oncogène RET et diagnostic moléculaire dans une grande famille marocaine de néoplasie endocrinienne multiple de type 2A by BENAZZOUZ, Bouchra, HAFIDI, Aicha, BENKHIRA, Said, CHRAIBI, Abdelmajid, KADIRI, Abdelkrim, HILAL, Latifa

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Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts by Hilal, Latifa, Nandrot, Emeline, Belmekki, Mohamed, Chefchaouni, Mohamed, Bacha, Siham El, Benazzouz, Bouchra, Hajaji, Yassir, Gribouval, Olivier, Dufier, Jean-Louis, Abitbol, Marc, Berraho, Amina

“…Autosomal dominant cerulean cataracts (ADCC) have previously been mapped to two loci: one on chromosome 17q24 and the other on chromosome 22q11.2-q12.2, which…”
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DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence by Hovnanian, Alain, Hilal, Latifa, Blanchet-Bardon, Claudine, Bodemer, Christine, de Prost, Yves, Stark, Caroline A., Christiano, Angela M., Dommergues, Marc, Terwilliger, Joseph D., Izquierdo, Luis, Conteville, Patricia, Dumez, Yves, Uitto, Jouni, Goossens, Michel

“…Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated the type VII collagen gene (COL7A1), which encodes the major…”
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