Shelef I - Search Results

1

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS. Feinstein-Linial M, et al. Among authors: shelef i. BMC Med Genet. 2016 Aug 12;17(1):57. doi: 10.1186/s12881-016-0315-1. BMC Med Genet. 2016. PMID: 27519903 Free PMC article.

2

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: shelef i. 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.

3

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS. Feinstein M, et al. Among authors: shelef i. Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092922 Free PMC article.

4

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: shelef i. 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.

5

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: shelef i. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

6

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS. Fine D, et al. Among authors: shelef i. Eur J Hum Genet. 2015 Dec;23(12):1729-34. doi: 10.1038/ejhg.2014.241. Epub 2014 Nov 12. Eur J Hum Genet. 2015. PMID: 25388005 Free PMC article.

7

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Flusser H, Halperin D, Kadir R, Shorer Z, Shelef I, Birk OS. Flusser H, et al. Among authors: shelef i. Clin Genet. 2018 Nov;94(5):473-479. doi: 10.1111/cge.13419. Epub 2018 Aug 9. Clin Genet. 2018. PMID: 30039846

8

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.

Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: shelef i. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055

9

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.

Perez Y, Bar-Yaacov R, Kadir R, Wormser O, Shelef I, Birk OS, Flusser H, Birnbaum RY. Perez Y, et al. Among authors: shelef i. Brain. 2019 Mar 1;142(3):574-585. doi: 10.1093/brain/awz004. Brain. 2019. PMID: 30715179 Free PMC article.

10

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z, Gradstein L, Shelef I, Flusser H, Birk OS. Halperin D, et al. Among authors: shelef i. Am J Med Genet A. 2020 Jun;182(6):1506-1512. doi: 10.1002/ajmg.a.61577. Epub 2020 Mar 31. Am J Med Genet A. 2020. PMID: 32232962

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