Teebi AS - Search Results

1

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 AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Am J Med Genet. 2002 Jul 22;111(1):31-7. doi: 10.1002/ajmg.10501. Am J Med Genet. 2002. PMID: 12124730 Review.

2

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Am J Med Genet A. 2004 Jul 1;128A(1):39-45. doi: 10.1002/ajmg.a.30005. Am J Med Genet A. 2004. PMID: 15211654

3

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 SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Clin Genet. 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x. Clin Genet. 2002. PMID: 12121354

4

Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Lo B, et al. Among authors: teebi as. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. doi: 10.1002/ajmg.a.20226. Am J Med Genet A. 2003. PMID: 12900899

5

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5. Atherosclerosis. 2009. PMID: 18774132

6

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Zaidi SH, Meyer S, Peltekova VD, Lindinger A, Teebi AS, Faiyaz-Ul-Haque M. Zaidi SH, et al. Among authors: teebi as. Eur J Pediatr. 2009 Jul;168(7):867-70. doi: 10.1007/s00431-008-0839-2. Epub 2008 Sep 26. Eur J Pediatr. 2009. PMID: 18818946

7

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Zaidi SH, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-Ul-Haque M, Teebi AS. Zaidi SH, et al. Among authors: teebi as. Clin Genet. 2005 Feb;67(2):183-8. doi: 10.1111/j.1399-0004.2004.00391.x. Clin Genet. 2005. PMID: 15679832

8

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS. Lo B, et al. Among authors: teebi as. Clin Genet. 2004 Feb;65(2):137-42. doi: 10.1111/j.0009-9163.2004.00201.x. Clin Genet. 2004. PMID: 14984473

9

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, Eltohami A, Al-Mureikhi MS, Al-Thani G, Peltekova VD, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565096 No abstract available.

10

Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?

Al-Sanna'a N, Adatia I, Teebi AS. Al-Sanna'a N, et al. Among authors: teebi as. Am J Med Genet. 2000 Oct 23;94(5):400-4. doi: 10.1002/1096-8628(20001023)94:5<400::aid-ajmg11>3.0.co;2-q. Am J Med Genet. 2000. PMID: 11050626

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

176 results

Search Page

Filters