Szargel R - Search Results

1

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.

2

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.

3

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

4

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

5

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.

6

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N. Labay V, et al. Among authors: szargel r. Nat Genet. 1999 Jul;22(3):300-4. doi: 10.1038/10372. Nat Genet. 1999. PMID: 10391221

7

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N. Raz T, et al. Among authors: szargel r. Hum Mutat. 2000;16(1):37-42. doi: 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10874303

8

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

9

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

10

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

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