Gershoni-Baruch R - Search Results

1

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.

2

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

3

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.

4

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

5

Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.

Gershoni-Baruch R, Shinawi M, Shamaly H, Katsinetz L, Brik R. Gershoni-Baruch R, et al. Am J Med Genet. 2002 May 1;109(3):198-201. doi: 10.1002/ajmg.10352. Am J Med Genet. 2002. PMID: 11977178

6

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597

7

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.

8

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.

9

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

10

Interstitial deletion (6)q13q15.

Gershoni-Baruch R, Mandel H, Bar El H, Bar-Nizan N, Borochowitz Z, Dar H. Gershoni-Baruch R, et al. Am J Med Genet. 1996 Apr 24;62(4):345-7. doi: 10.1002/(SICI)1096-8628(19960424)62:4<345::AID-AJMG4>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723062 Review.

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