Nitowsky H - Search Results

1

Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.

Rady PL, Tyring SK, Hudnall SD, Vargas T, Kellner LH, Nitowsky H, Matalon RK. Rady PL, et al. Among authors: nitowsky h. Am J Med Genet. 1999 Oct 8;86(4):380-4. doi: 10.1002/(sici)1096-8628(19991008)86:4<380::aid-ajmg13>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10494095

2

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.

Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, Tyring SK, Matalon RK. Rady PL, et al. Among authors: nitowsky h. Am J Med Genet. 2002 Jan 15;107(2):162-8. doi: 10.1002/ajmg.10122. Am J Med Genet. 2002. PMID: 11807892

3

Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations.

Rady PL, Matalon R, Grady J, Smith EM, Hudnall SD, Kellner LH, Nitowsky H, Tyring SK, Hughes TK. Rady PL, et al. Among authors: nitowsky h. Genet Test. 2004 Summer;8(2):194-203. doi: 10.1089/gte.2004.8.194. Genet Test. 2004. PMID: 15345120

4

Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations.

Rady PL, Szucs S, Matalon RK, Grady J, Hudnall SD, Kellner LH, Nitowsky H. Rady PL, et al. Among authors: nitowsky h. Mol Genet Metab. 2001 Jul;73(3):285-6. doi: 10.1006/mgme.2001.3197. Mol Genet Metab. 2001. PMID: 11461197 No abstract available.

5

First prenatal diagnosis of X-linked lymphoproliferative disease.

Skare J, Madan S, Glaser J, Purtilo D, Nitowsky H, Pulijaal V, Milunsky A. Skare J, et al. Among authors: nitowsky h. Am J Med Genet. 1992 Sep 1;44(1):79-81. doi: 10.1002/ajmg.1320440119. Am J Med Genet. 1992. PMID: 1355632

6

Incontinentia pigmenti in a newborn male infant with DNA confirmation.

Roberts JL, Morrow B, Vega-Rich C, Salafia CM, Nitowsky HM. Roberts JL, et al. Among authors: nitowsky hm. Am J Med Genet. 1998 Jan 13;75(2):159-63. doi: 10.1002/(sici)1096-8628(19980113)75:2<159::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9450877

7

Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.

Skare J, Wu BL, Madan S, Pulijaal V, Purtilo D, Haber D, Nelson D, Sylla B, Grierson H, Nitowsky H, et al. Skare J, et al. Among authors: nitowsky h. Genomics. 1993 Apr;16(1):254-5. doi: 10.1006/geno.1993.1169. Genomics. 1993. PMID: 8387453 Free article.

8

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.

Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI. Galdzicka M, et al. Among authors: nitowsky h. Mol Genet Metab. 2002 Dec;77(4):291-5. doi: 10.1016/s1096-7192(02)00178-6. Mol Genet Metab. 2002. PMID: 12468274

9

Potential mapping of corneal dermoids to Xq24-qter.

Dar P, Javed AA, Ben-Yishay M, Ferreira JC, Paterson AD, Gross SJ, Chitayat D, Morrow BE, Nitowsky HM. Dar P, et al. Among authors: nitowsky hm. J Med Genet. 2001 Oct;38(10):719-23. doi: 10.1136/jmg.38.10.719. J Med Genet. 2001. PMID: 11594343 Free PMC article. No abstract available.

10

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review.

Hahm SY, Chitayat D, Iqbal MA, Cho S, Nitowsky HM. Hahm SY, et al. Among authors: nitowsky hm. Clin Genet. 1987 May;31(5):343-8. doi: 10.1111/j.1399-0004.1987.tb02819.x. Clin Genet. 1987. PMID: 3301092 Review.

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