Zlotogora J - Search Results

1

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Bercovich D, Elimelech A, Zlotogora J, Korem S, Yardeni T, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. Bercovich D, et al. Among authors: zlotogora j. J Hum Genet. 2008;53(5):407-418. doi: 10.1007/s10038-008-0264-4. Epub 2008 Feb 26. J Hum Genet. 2008. PMID: 18299955

2

Homozygosity for Waardenburg syndrome.

Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D. Zlotogora J, et al. Am J Hum Genet. 1995 May;56(5):1173-8. Am J Hum Genet. 1995. PMID: 7726174 Free PMC article.

3

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T. Abeliovich D, et al. Among authors: zlotogora j. Am J Hum Genet. 1997 Mar;60(3):505-14. Am J Hum Genet. 1997. PMID: 9042909 Free PMC article.

4

Germ line mosaicism.

Zlotogora J. Zlotogora J. Hum Genet. 1998 Apr;102(4):381-6. doi: 10.1007/s004390050708. Hum Genet. 1998. PMID: 9600231 Review.

5

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Among authors: zlotogora j. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.

6

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Zlotogora J. Zlotogora J. Hum Genet. 2004 May;114(6):521-6. doi: 10.1007/s00439-004-1105-y. Epub 2004 Mar 16. Hum Genet. 2004. PMID: 15024643 Review.

7

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D. Lerer I, et al. Among authors: zlotogora j. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. doi: 10.1093/hmg/ddi415. Epub 2005 Nov 21. Hum Mol Genet. 2005. PMID: 16301218

8

Multiple mutations responsible for frequent genetic diseases in isolated populations.

Zlotogora J. Zlotogora J. Eur J Hum Genet. 2007 Mar;15(3):272-8. doi: 10.1038/sj.ejhg.5201760. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213840 Review.

9

The fate of 12 recessive mutations in a single village.

Zlotogora J, Hujerat Y, Barges S, Shalev SA, Chakravarti A. Zlotogora J, et al. Ann Hum Genet. 2007 Mar;71(Pt 2):202-8. doi: 10.1111/j.1469-1809.2006.00308.x. Ann Hum Genet. 2007. PMID: 17331080

10

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Bercovich D, Elimelech A, Yardeni T, Korem S, Zlotogora J, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y. Bercovich D, et al. Among authors: zlotogora j. Ann Hum Genet. 2008 May;72(Pt 3):305-9. doi: 10.1111/j.1469-1809.2007.00425.x. Epub 2008 Feb 19. Ann Hum Genet. 2008. PMID: 18294361

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