Search Results - "H'Mida, D."

Additional Tunisian patients with Sanjad–Sakati syndrome: A review toward a consensus on diagnostic criteria by Touati, A., Nouri, S., Halleb, Y., Kmiha, S., Mathlouthi, J., Tej, A., Mahdhaoui, N., Ben Ahmed, A., Saad, A., Bensignor, C., H’mida Ben Brahim, D.

“…Sanjad–Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by…”
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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23 by Gribaa, M., Salih, M., Anheim, M., Lagier-Tourenne, C., H'mida, D., Drouot, N., Mohamed, A., Elmalik, S., Kabiraj, M., Al-Rayess, M., Almubarak, M., Bétard, C., Goebel, H., Koenig, M.

“…Childhood ataxias are a complex set of inherited disorders. Ataxias associated with generalized tonic-clonic epilepsy are usually included with the progressive…”
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Placental Mesenchymal Dysplasia with Beckwith–Wiedemann Syndrome Fetus in the Context of Biparental and Androgenic Cell Lines by H'mida, D, Gribaa, M, Yacoubi, T, Chaieb, A, Adala, L, Elghezal, H, Saad, A

“…Abstract Placental mesenchymal dysplasia (PMD) is a distinct placental disorder that may coexist with a normal fetus. In one-third of cases, the fetus exhibits…”
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Ichtyosiform erythroderma revealing a severe combined immunodeficiency by Ghariani Fetoui, N, Boussofara, L, Hmida, D, Mokni, S, Mekki, N, Ben Mustapha, I, Belajouza, C, Ghariani, N, Picard, C, Denguezli, M

“…Severe combined immunodeficiency (SCID) is a the most severe form of primary immunodeficiency and is highly heterogeneous. We report an atypical form of SCID…”
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Adult recurrent pilocytic astrocytoma: Clinical, histopathological and molecular study by Trabelsi, S, Mama, N, Ladib, M, Popov, S, Burford, A, Mokni, M, Tlili, K, Krifa, H, Varella-Garcia, M, Jones, C, Tahar Yacoubi, M, Saad, A, H’mida Ben Brahim, D

“…Abstract Background PA is a grade I glial tumor that mostly occurs in children. However, although apparently similar to paediatric PA, adult PA presents a…”
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MGMT methylation assessment in glioblastoma: MS-MLPA versus human methylation 450K beadchip array and immunohistochemistry by Trabelsi, S., Mama, N., Ladib, M., Karmeni, N., Haddaji Mastouri, M., Chourabi, M., Mokni, M., Tlili, K., Krifa, H., Yacoubi, M. T., Saad, A., H’mida Ben Brahim, D.

“…Purpose The MGMT gene encodes a DNA repair enzyme that counteracts with chemotherapy efficiency, specifically with alkylating agents such as temozolomide…”
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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays by H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.

“…The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically…”
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739 18Q22 Monosomy: Genotype-Phenotype Correlation and Therapeutic Impact by Kammoun, M, Hannechi, H, Hajlaoui, H, Soua, H, Hmida, D, Saad, A, Mougou, S

“…The deletion of the long arm of chromosome 18 causes a contiguous gene deletion syndrome with a highly variable phenotype, usually related to the extent of the…”
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58P Molecular investigation using microarray-based comparative genomic hybridization in patients with myelodysplastic syndrome and normal karyotype by Ammar, M.A.N., Bennour, A., Ouahchi, I., Yahia, L., Dimassi, S., Mougou, S., Saad, A., H'Mida, D., Sennana, H.

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738 Molecular Characterization of DER (8) (QTERQ21.13: PTERP23.3) Dn In a Child Associating Psychomotor Retardation, Hydrocephalus and Facial Dysmorphism by Hannachi, H, Mougou-Zerelli, S, Helal, K Ben, Abdallah, I Ben, Hmida, D, Elghezal, H, Saad, A

“…Complex but balanced chromosomal rearrangements can give rise, through recombination during meiosis, to complex unbalanced rearrangements. Here, we report on…”
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556 Igf1R Deletion in a Prenatal Case by Kammoun, M, Hichri, R, Hannechi, H, Mechmech, S, Hmida, D, Bibi, M, Saad, A, Mougou, S

“…Small fetuses constitute a large group including healthy small fetuses, fetuses suffering from utero-placental insufficiency or chromosomal abnormality. In the…”
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314 Porokeratosis of Mibelli in the Tunisian Population by El Mabrouk, H., Mhalla, S.M., Ghariani, N., Boussofara, L., Saad, A., Denguezli, M., H’Mida, D.

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213 Genetic study of the largest Tunisian cohort of 15 patients with Netherton syndrome: Two new SPINK5 mutations and founder effect by Chouk, H., Mokni, S., Litaiem, N., Hammami, H., Mokni, M., Sriha, B., Saad, A., Hovnanian, A., Denguezli, M., H’Mida, D.

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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La porokératose de Mibelli : variant modificateur associé à la mutation pathogène c.412C>T du gène PMVK by El Mabrouk, H., Boussofara, L., Chouk, H., Ghariani, N., Saad, A., Denguezli, M., H’mida, D.

“…La porokératose de Mibelli (PM) est une génodermatose rare de transmission autosomique dominante liée aux gènes MVK et PMVK, acteurs de la voie du mévalonate…”
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Étude génétique de la porokératose chez 2 familles tunisiennes by Mabrouk, H. El, Chouk, H., Ghariani, N., Denguezli, M., Saad, A., Boussofara, L., H’mida, D.

“…Les porokératoses (PK) regroupent un ensemble de dermatoses rares acquises ou héréditaires caractérisées par des troubles de la différenciation épidermique et…”
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HG-11 INTEGRATIVE MOLECULAR META-ANALYSIS OF 700 PEDIATRIC HIGH GRADE GLIOMA AND DIPG DEFINES WIDESPREAD INTER- AND INTRA-TUMORAL HETEROGENEITY by Mackay, A., Vinci, M., Burford, A., Bjerke, L., Taylor, K., Nandhabalan, M., Marshall, L., Molinari, V., Popov, S., Ingram, W., Moore, A., Trabelsi, S., Hmida, D., Mu, K., Bidinotto, L., Reis, R., Ng, H. K., von Bueren, A., Baudis, M., Jones, C.

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Xeroderma pigmentosum et mastocytose systémique : association ou coïncidence ? by Nabli, N., Aounallah, A., Gharbi, H., Ben Sayed, N., Wahchi, I., H’mida, D., Abdessaied, N., Mokni, S., Belkahla, M., Belajouza, C., Boussofara, L., Denguezli, M.

“…Le xeroderma pigmentosum (XP) est une génodermatose rare caractérisée par une fréquence accrue de cancers cutanés des régions photo-exposées. L’association…”
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O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease by Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M

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Ichtyosiform erythroderma revealing a severe combined immunodeficiency by Ghariani Fetoui, N, Boussofara, L, Hmida, D, Mokni, S, Mekki, N, Ben Mustapha, I, Belajouza, C, Ghariani, N, Picard, C, Denguezli, M

“…BACKGROUNDSevere combined immunodeficiency (SCID) is a the most severe form of primary immunodeficiency and is highly heterogeneous. We report an atypical form…”
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