Szargel R - Search Results

1

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.

Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: szargel r. Am J Hum Genet. 1999 May;64(5):1323-9. doi: 10.1086/302368. Am J Hum Genet. 1999. PMID: 10205263 Free PMC article.

2

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N. Raz T, et al. Among authors: szargel r. Hum Genet. 1998 Oct;103(4):455-61. doi: 10.1007/s004390050850. Hum Genet. 1998. PMID: 9856490

3

Atrichia with papular lesions maps to 8p in the region containing the human hairless gene.

Sprecher E, Bergman R, Szargel R, Raz T, Labay V, Ramon M, Baruch-Gershoni R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: szargel r. Am J Med Genet. 1998 Dec 28;80(5):546-50. doi: 10.1002/(sici)1096-8628(19981228)80:5<546::aid-ajmg28>3.0.co;2-i. Am J Med Genet. 1998. PMID: 9880231

4

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.

Sprecher E, Lestringant GG, Szargel R, Bergman R, Labay V, Frossard PM, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: szargel r. J Invest Dermatol. 1999 Oct;113(4):687-90. doi: 10.1046/j.1523-1747.1999.00723.x. J Invest Dermatol. 1999. PMID: 10504459 Free article.

5

Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.

Sprecher E, Shalata A, Dabhah K, Futerman B, Lin S, Szargel R, Bergman R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: szargel r. J Am Acad Dermatol. 2000 Jun;42(6):978-82. J Am Acad Dermatol. 2000. PMID: 10827399

6

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.

Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R. Sprecher E, et al. Among authors: szargel r. Nat Genet. 2001 Oct;29(2):134-6. doi: 10.1038/ng716. Nat Genet. 2001. PMID: 11544476

7

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N. Shalata A, et al. Among authors: szargel r. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

8

Reply.

Sprecher E, Lestringant GG, Szargel R, Bergman R, Labay V V, Frossard PM, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: szargel r. J Invest Dermatol. 2000 Oct;115(4):762-3. doi: 10.1046/j.1523-1747.2000.00124-2.x. J Invest Dermatol. 2000. PMID: 10998158 Free article. No abstract available.

9

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. Mandel H, et al. Among authors: szargel r. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800

10

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N. Neufeld EJ, et al. Among authors: szargel r. Am J Hum Genet. 1997 Dec;61(6):1335-41. doi: 10.1086/301642. Am J Hum Genet. 1997. PMID: 9399900 Free PMC article.

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