Landau D - Search Results

1

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: landau d. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

2

A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred.

Landau D, Mishori-Dery A, Hershkovitz R, Narkis G, Elbedour K, Carmi R. Landau D, et al. Am J Med Genet A. 2003 Feb 15;117A(1):37-40. doi: 10.1002/ajmg.a.10894. Am J Med Genet A. 2003. PMID: 12548738

3

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Among authors: landau d. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

4

Genetics of arthrogryposis: linkage analysis approach.

Narkis G, Landau D, Manor E, Ofir R, Birk OS. Narkis G, et al. Among authors: landau d. Clin Orthop Relat Res. 2007 Mar;456:30-5. doi: 10.1097/BLO.0b013e3180312bee. Clin Orthop Relat Res. 2007. PMID: 17195815

5

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: landau d. 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.

6

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: landau d. 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.

7

Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Birnbaum RY, et al. Among authors: landau d. Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903. Am J Med Genet A. 2008. PMID: 18348258 No abstract available.

8

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Romi H, et al. Among authors: landau d. Am J Hum Genet. 2012 May 4;90(5):893-9. doi: 10.1016/j.ajhg.2012.03.022. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521417 Free PMC article.

9

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Markus B, et al. Among authors: landau d. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22610851

10

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Among authors: landau d. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

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