Search Results - "Teebi, A"

Genetic diversity among the Arabs by Teebi, Ahmad S, Teebi, Saeed A

“…The Arabs in general are genetically diverse. Major factors that contributed to their diversity include the migrations of Semitic tribes from the Arabian…”
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Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar by Faiyaz-Ul-Haque, M, Zaidi, SHE, Al-Mureikhi, MS, Peltekova, I, Tsui, L-C, Teebi, AS

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Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome) by Faiyaz-Ul-Haque, M, Ahmad, W, Zaidi, SHE, Haque, S, Teebi, AS, Ahmad, M, Cohn, DH, Tsui, L-C

“…The present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as…”
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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I by Saal, S, Faivre, L, Aral, Bernard, Gigot, N, Toutain, A, Van Maldergem, L, Destree, A, Maystadt, I, Cosyns, J-P, Jouk, P-S, Loeys, B, Chauveau, D, Bieth, E, Layet, V, Mathieu, M, Lespinasse, J, Teebi, A, Franco, B, Gautier, E, Binquet, C, Masurel-Paulet, A, Mousson, C, Gouyon, J-B, Huet, F, Thauvin-Robinet, C

“…Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M,…”
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Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families by Faiyaz-Ul-Haque, M, Zaidi, SHE, Wahab, AA, Eltohami, A, Al-Mureikhi, MS, Al-Thani, G, Peltekova, VD, Tsui, L-C, Teebi, AS

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Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene by Zaidi, SHE, Meyer, S, Peltekova, I, Teebi, AS, Faiyaz-Ul-Haque, M

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A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13 by Zaidi, SHE, Peltekova, V, Meyer, S, Lindinger, A, Paterson, AD, Tsui, L-C, Faiyaz-Ul-Haque, M, Teebi, AS

“…Arterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers–Danlos syndrome (EDS), has…”
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A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar by Wahab, A Abdul, Janahi, IA, Eltohami, A, Zeid, A, Haque, NF Ul, Teebi, AS

“…Aim: To describe the clinical spectrum of anomalies of a new type of Ehlers‐Danlos syndrome in 32 patients from a large inter‐related extended family in Qatar…”
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Autosomal recessive disorders among Arabs: an overview from Kuwait by Teebi, A S

“…Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab…”
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Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis by Dowling, Oonagh, Difeo, Analisa, Ramirez, Maria C., Tukel, Turgut, Narla, Goutham, Bonafe, Luisa, Kayserili, Hulya, Yuksel-Apak, Memnune, Paller, Amy S., Norton, Karen, Teebi, Ahmad S., Grum-Tokars, Valerie, Martin, Gail S., Davis, George E., Glucksman, Marc J., Martignetti, John A.

“…Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive syndromes of unknown etiology characterized by multiple,…”
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Infantile systemic hyalinosis : A fatal disorder commonly diagnosed among Arabs by AL-MAYOUF, S. M, ALMEHAIDIB, A, BAHABRI, S, SHABIB, S, SAKATI, N, TEEBI, A. S

“…We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%)…”
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Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome by TEEBI, AHMAD S

“…5 The same authors subsequently suggested that this entity represents the Arab variant of KCS and because of some clinical resemblance to DiGeorge syndrome…”
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Arab genetic disease database (AGDDB): A population-specific clinical and mutation database by Teebi, Ahmad S., Teebi, Saeed A., Porter, Christopher J., Cuticchia, A. Jamie

“…Here we present the Arab Genetic Disease Database (AGDDB), a curated catalog of genetic disorders found in Arab populations. The first release of the database…”
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Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? by Siegel-Bartlet, J, Levin, A, Teebi, A S, Kennedy, S J

“…1 Also, teratogenic conditions, such as valproate embryopathy, may also have an association with neural tube defects. 2 We present an apparently autosomal…”
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Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene by Walker, L.C., Teebi, A.S., Marini, J.C., Paepe, A. De, Malfait, F., Atsawasuwan, P., Yamauchi, M., Yeowell, H.N.

“…The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the…”
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Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome) by Narayan, D, Krishnan, S N, Upender, M, Ravikumar, T S, Mahoney, M J, Dolan, T F, Teebi, A S, Haddad, G G

“…Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be…”
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Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings by Majeed, H A, Kalaawi, M, Mohanty, D, Teebi, A S, Tunjekar, M F, al-Gharbawy, F, Majeed, S A, al-Gazzar, A H

“…Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown cause, occurred in three children…”
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The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23 by Lo, B, Faiyaz-Ul-Haque, M, Banwell, B, Blaser, S, Paterson, AD, Tsui, L-C, Teebi, AS

“…Horizontal gaze palsy associated with progressive scoliosis (HGPS) is a rare autosomal recessive condition that has been recently mapped to a 30‐cM region on…”
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism by Yu, Timothy W., Chahrour, Maria H., Coulter, Michael E., Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A., Adli, Mazhar, Malik, Athar N., D’Gama, Alissa M., Lim, Elaine T., Sanders, Stephan J., Mochida, Ganesh H., Partlow, Jennifer N., Sunu, Christine M., Felie, Jillian M., Rodriguez, Jacqueline, Nasir, Ramzi H., Ware, Janice, Joseph, Robert M., Hill, R. Sean, Kwan, Benjamin Y., Al-Saffar, Muna, Mukaddes, Nahit M., Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G., Hisama, Fuki M., LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A., Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S., Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R., Rappaport, Leonard, Gabriel, Stacey B., Markianos, Kyriacos, State, Matthew W., Greenberg, Michael E., Taniguchi, Hisaaki, Braverman, Nancy E., Morrow, Eric M., Walsh, Christopher A.

“…Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of…”
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Limb/pelvis/uterus-hypoplasia/aplasia syndrome by Teebi, A S

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