15
results
for author:"Teebi A."
in Literature Citations
| Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Thauvin-Robinet C., Franco B., Saugier-Veber P., Aral B., Gigot N., Donzel A., Van Maldergem L., Bieth E., Layet V., Mathieu M. et al. Hum. Mutat. 30:E320-9(2009) · Mapped (8) |
| A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. Zaidi S.H., Meyer S., Peltekova V.D., Lindinger A., Teebi A.S., Faiyaz-Ul-Haque M. Eur. J. Pediatr. 168:867-870(2009) · Mapped (4) |
| A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Sanna N., Alswaid A., Momenah T., Kaya N., Al-Dayel F., Bouhoaigah I., Saliem M., Tsui L.C. et al. Atherosclerosis 203:466-471(2009) · Mapped (4) |
| Additional EFNB1 mutations in craniofrontonasal syndrome. Wallis D., Lacbawan F., Jain M., Der Kaloustian V.M., Steiner C.E., Moeschler J.B., Losken H.W., Kaitila I.I., Cantrell S., Proud V.K. et al. Am. J. Med. Genet. A 146A:2008-2012(2008) · Mapped (1) |
| Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S. Clin. Genet. 74:189-193(2008) · Mapped (4) |
| Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Mureikhi M.S., Peltekova I., Tsui L.C., Teebi A.S. Clin. Genet. 72:164-166(2007) · Mapped (2) |
| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Kantarci S., Al-Gazali L., Hill R.S., Donnai D., Black G.C.M., Bieth E., Chassaing N., Lacombe D., Devriendt K., Teebi A. et al. |
| Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). Seidler D.G., Faiyaz-Ul-Haque M., Hansen U., Yip G.W., Zaidi S.H., Teebi A.S., Kiesel L., Gotte M. J. Mol. Med. 84:583-594(2006) · Mapped (5) |
| 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. Walker L.C., Teebi A.S., Marini J.C., De Paepe A., Malfait F., Atsawasuwan P., Yamauchi M., Yeowell H.N. Mol. Genet. Metab. 83:312-321(2004) · Mapped (7) |
| Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Dowling O., Difeo A., Ramirez M.C., Tukel T., Narla G., Bonafe L., Kayserili H., Yuksel-Apak M., Paller A.S., Norton K. et al. Am. J. Hum. Genet. 73:957-966(2003) · UniProtKB (1) · Mapped (3) |
| Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S. Am. J. Med. Genet. A 121:37-40(2003) · UniProtKB (1) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (658) |
| Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Faiyaz-Ul-Haque M., Ahmad W., Wahab A., Haque S., Azim A.C., Zaidi S.H., Teebi A.S., Ahmad M., Cohn D.H., Siddique T. et al. Am. J. Med. Genet. 111:31-37(2002) · Mapped (2) |
| Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Faiyaz-Ul-Haque M., Ahmad W., Zaidi S.H.E., Haque S., Teebi A.S., Ahmad M., Cohn D.H., Tsui L.-C. |
| Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., Russo P., Kennedy S., Teebi A.S., Scavina M. et al. |
