Gershoni-Baruch R - Search Results

1

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

Tiosano D, Audi L, Climer S, Zhang W, Templeton AR, Fernández-Cancio M, Gershoni-Baruch R, Sánchez-Muro JM, El Kholy M, Hochberg Z. Tiosano D, et al. Among authors: gershoni baruch r. G3 (Bethesda). 2016 May 3;6(5):1251-66. doi: 10.1534/g3.115.026773. G3 (Bethesda). 2016. PMID: 26921301 Free PMC article.

2

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z. Paperna T, et al. J Clin Endocrinol Metab. 2005 Sep;90(9):5463-5. doi: 10.1210/jc.2005-1145. Epub 2005 Jul 19. J Clin Endocrinol Metab. 2005. PMID: 16030166

3

Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency.

Gershoni-Baruch R, Goldscher D, Hochberg Z. Gershoni-Baruch R, et al. Am J Med Genet. 1997 Jan 20;68(2):168-72. doi: 10.1002/(sici)1096-8628(19970120)68:2<168::aid-ajmg9>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9028452

4

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

Tiosano D, Pannain S, Vassart G, Parma J, Gershoni-Baruch R, Mandel H, Lotan R, Zaharan Y, Pery M, Weiss RE, Refetoff S, Hochberg Z. Tiosano D, et al. Thyroid. 1999 Sep;9(9):887-94. doi: 10.1089/thy.1999.9.887. Thyroid. 1999. PMID: 10524567

5

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E. Mandel H, et al. Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005. Am J Hum Genet. 2008. PMID: 18179883 Free PMC article.

6

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.

7

The D allele of the angiotensin-converting enzyme gene contributes towards blood LDL-cholesterol levels and the presence of hypertension.

Oren I, Brook JG, Gershoni-Baruch R, Kepten I, Tamir A, Linn S, Wolfovitz E. Oren I, et al. Atherosclerosis. 1999 Aug;145(2):267-71. doi: 10.1016/s0021-9150(99)00075-1. Atherosclerosis. 1999. PMID: 10488952

8

Henoch-Schonlein purpura: polymorphisms in thrombophilia genes.

Dagan E, Brik R, Broza Y, Gershoni-Baruch R. Dagan E, et al. Pediatr Nephrol. 2006 Aug;21(8):1117-21. doi: 10.1007/s00467-006-0155-x. Epub 2006 Jun 22. Pediatr Nephrol. 2006. PMID: 16791607

9

Familial Mediterranean fever: high gene frequency and heterogeneous disease among an Israeli-Arab population.

Shinawi M, Brik R, Berant M, Kasinetz L, Gershoni-Baruch R. Shinawi M, et al. J Rheumatol. 2000 Jun;27(6):1492-5. J Rheumatol. 2000. PMID: 10852276

10

Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women.

Gershoni-Baruch R, Dagan E, Israeli D, Kasinetz L, Kadouri E, Friedman E. Gershoni-Baruch R, et al. Eur J Cancer. 2000 Dec;36(18):2313-6. doi: 10.1016/s0959-8049(00)00306-3. Eur J Cancer. 2000. PMID: 11094304

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