Birk OS - Search Results

1

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. Zolotushko J, et al. Among authors: birk os. Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11. Eur J Hum Genet. 2011. PMID: 21559050 Free PMC article.

2

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS. Harel T, et al. Among authors: birk os. Eur J Hum Genet. 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. Eur J Hum Genet. 2004. PMID: 14523375

3

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. Bar-Yosef U, et al. Among authors: birk os. Hum Genet. 2004 Sep;115(4):302-9. doi: 10.1007/s00439-004-1154-2. Hum Genet. 2004. PMID: 15257456

4

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. Harel T, et al. Among authors: birk os. Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Am J Med Genet A. 2005. PMID: 15558753

5

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. Khateeb S, et al. Among authors: birk os. Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033970 Free PMC article.

6

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Narkis G, et al. Among authors: birk os. Am J Hum Genet. 2007 Sep;81(3):530-9. doi: 10.1086/520771. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701898 Free PMC article.

7

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Narkis G, et al. Among authors: birk os. Am J Hum Genet. 2007 Sep;81(3):589-95. doi: 10.1086/520770. Epub 2007 Jul 24. Am J Hum Genet. 2007. PMID: 17701904 Free PMC article.

8

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS. Barel O, et al. Among authors: birk os. Am J Hum Genet. 2008 May;82(5):1211-6. doi: 10.1016/j.ajhg.2008.03.020. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439546 Free PMC article.

9

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS. Barel O, et al. Among authors: birk os. Am J Hum Genet. 2008 Aug;83(2):193-9. doi: 10.1016/j.ajhg.2008.07.010. Am J Hum Genet. 2008. PMID: 18678320 Free PMC article.

10

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS. Agamy O, et al. Among authors: birk os. Am J Hum Genet. 2010 Oct 8;87(4):538-44. doi: 10.1016/j.ajhg.2010.09.007. Am J Hum Genet. 2010. PMID: 20920667 Free PMC article.

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