Teebi AS - Search Results

1

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

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 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

3

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

4

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

5

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

6

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Among authors: teebi as. Clin Genet. 2007 Aug;72(2):164-6. doi: 10.1111/j.1399-0004.2007.00846.x. Clin Genet. 2007. PMID: 17661825 No abstract available.

7

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.

8

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene.

Zaidi SH, Meyer S, Peltekova I, Teebi AS, Faiyaz-Ul-Haque M. Zaidi SH, et al. Among authors: teebi as. Clin Genet. 2009 Jun;75(6):588-9. doi: 10.1111/j.1399-0004.2009.01165.x. Clin Genet. 2009. PMID: 19508422 No abstract available.

9

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

10

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.

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