Ahmad NN - Search Results

1

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ. Ahmad NN, et al. Am J Hum Genet. 1993 Jan;52(1):39-45. Am J Hum Genet. 1993. PMID: 8434604 Free PMC article. Review.

2

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.

Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, Korn RM, Buxton PG, Dimascio J, Considine EL, et al. Williams CJ, et al. Among authors: ahmad nn. Hum Mutat. 1992;1(5):403-16. doi: 10.1002/humu.1380010510. Hum Mutat. 1992. PMID: 1301950

3

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ. Ahmad NN, et al. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7. doi: 10.1073/pnas.88.15.6624. Proc Natl Acad Sci U S A. 1991. PMID: 1677770 Free PMC article.

4

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene.

Ahmad NN, Dimascio J, Knowlton RG, Tasman WS. Ahmad NN, et al. Arch Ophthalmol. 1995 Nov;113(11):1454-7. doi: 10.1001/archopht.1995.01100110114034. Arch Ophthalmol. 1995. PMID: 7487609

5

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Ahmad NN, McDonald-McGinn DM, Dixon P, Zackai EH, Tasman WS. Ahmad NN, et al. J Med Genet. 1996 Aug;33(8):678-81. doi: 10.1136/jmg.33.8.678. J Med Genet. 1996. PMID: 8863161 Free PMC article.

6

A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?

Ahmad NN, Melo MB, Singh AD, Donoso LA, Shields JA. Ahmad NN, et al. Ophthalmic Genet. 1999 Dec;20(4):225-31. doi: 10.1076/opge.20.4.225.2269. Ophthalmic Genet. 1999. PMID: 10617920

7

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Donoso LA, et al. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5. Surv Ophthalmol. 2003. PMID: 12686304 Review.

8

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad NN, Vrabec T, Rogers J, Meyer D. Donoso LA, et al. Among authors: ahmad nn. Am J Ophthalmol. 2002 Nov;134(5):720-7. doi: 10.1016/s0002-9394(02)01638-0. Am J Ophthalmol. 2002. PMID: 12429249

9

Solitary retinal capillary hemangioma: lack of genetic evidence for von Hippel-Lindau disease.

Singh AD, Ahmad NN, Shields CL, Shields JA. Singh AD, et al. Among authors: ahmad nn. Ophthalmic Genet. 2002 Mar;23(1):21-7. doi: 10.1076/opge.23.1.21.2201. Ophthalmic Genet. 2002. PMID: 11910555

10

Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purity from frozen blood.

Ahmad NN, Cu-Unjieng AB, Donoso LA. Ahmad NN, et al. J Med Genet. 1995 Feb;32(2):129-30. doi: 10.1136/jmg.32.2.129. J Med Genet. 1995. PMID: 7760323 Free PMC article.

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