Browse by Author Teebi, AS

TitleAuthor(s)YearView Count
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndromeFaiyazUlHaque, M; Zaidi, SHE; AlSanna, N; Alswaid, A; Momenah, T; Kaya, N; AlDayel, F; Bouhoaigah, I; Saliem, M; Tsui, LC; Teebi, AS2009360
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari familiesFaiyazulHaque, M; Zaidi, SHE; Wahab, AA; Eltohami, A; AlMureikhi, MS; AlThani, G; Peltekova, VD; Tsui, LC; Teebi, AS2008106
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [5]FaiyazUlHaque, M; Zaidi, SHE; AlMureikhi, MS; Peltekova, I; Tsui, LC; Teebi, AS2007109
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13Zaidi, SHE; Peltekova, V; Meyer, S; Lindinger, A; Paterson, AD; Tsui, LC; FaiyazUlHaque, M; Teebi, AS2005543
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23Lo, B; FaiyazUlHaque, M; Banwell, B; Blaser, S; Paterson, AD; Tsui, LC; Teebi, AS2004656
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid typeFaiyazUlHaque, M; Zaidi, SHE; AlAli, M; AlMureikhi, MS; Kennedy, S; AlThani, G; Tsui, LC; Teebi, AS2004668
A novel homozygous recessive mutation in the galactosyltransferase-I (B4GALT7) gene in individuals resembling the progeroid type of Ehlers-Danlos syndromeUl haque, MF; Teebi, AS; Al-ali, M; Al-mureikhi, MS; Kennedy, S; Al-thani, G; Zaidi, SHE; Tsui, L-C2003295
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubismLo, B; FaiyazUlHaque, M; Kennedy, S; Aviv, R; Tsui, LC; Teebi, AS2003437
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)FaiyazUlHaque, M; Ahmad, W; Zaidi, SHE; Haque, S; Teebi, AS; Ahmad, M; Cohn, DH; Tsui, LC2002165
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaFaiyazUlHaque, M; Ahmad, W; Wahab, A; Haque, S; Azim, AC; Zaidi, SHE; Teebi, AS; Ahmad, M; Cohn, DH; Siddique, T; Tsui, LC2002258