Manor E - Search Results

1

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R. Mazor M, et al. Among authors: manor e. Am J Hum Genet. 2011 May 13;88(5):599-607. doi: 10.1016/j.ajhg.2011.03.018. Epub 2011 Apr 14. Am J Hum Genet. 2011. PMID: 21496787 Free PMC article.

2

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R. Levy-Litan V, et al. Among authors: manor e. Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137772 Free PMC article.

3

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R. Levitas A, et al. Among authors: manor e. Eur J Hum Genet. 2010 Oct;18(10):1160-5. doi: 10.1038/ejhg.2010.83. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551992 Free PMC article.

4

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.

Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Muhammad E, et al. Among authors: manor e. Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184099

5

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

Parvari R, Mumm S, Galil A, Manor E, Bar-David Y, Carmi R. Parvari R, et al. Among authors: manor e. Am J Med Genet. 1999 Apr 2;83(4):302-7. doi: 10.1002/(sici)1096-8628(19990402)83:4<302::aid-ajmg13>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10208166

6

McCune-Albright syndrome in a discordant monozygotic twin.

Peleg R, Luba A, Eliakim A, Israeli-Shani L, Manor E, Birk R, Parvari R. Peleg R, et al. Among authors: manor e. Isr Med Assoc J. 2009 Jun;11(6):343-7. Isr Med Assoc J. 2009. PMID: 19697584 Free article.

7

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R. Cox JJ, et al. Among authors: manor e. Hum Mutat. 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325. Hum Mutat. 2010. PMID: 20635406 Free PMC article.

8

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: manor e. 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.

9

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: manor e. 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.

10

Prevalence of vectors of the spotted fever group Rickettsiae and murine typhus in a Bedouin town in Israel.

Mumcuoglu KY, Ioffe-Uspensky I, Alkrinawi S, Sarov B, Manor E, Galun R. Mumcuoglu KY, et al. Among authors: manor e. J Med Entomol. 2001 May;38(3):458-61. doi: 10.1603/0022-2585-38.3.458. J Med Entomol. 2001. PMID: 11372975

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