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Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: hochner h. Hum Mutat. 2003 Jan;21(1):99. doi: 10.1002/humu.9100. Hum Mutat. 2003. PMID: 12497639
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: hochner h. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Associations of maternal pre-pregnancy and gestational body size with offspring longitudinal change in BMI.
Lawrence GM, Shulman S, Friedlander Y, Sitlani CM, Burger A, Savitsky B, Granot-Hershkovitz E, Lumley T, Kwok PY, Hesselson S, Enquobahrie D, Wander PL, Manor O, Siscovick DS, Hochner H. Lawrence GM, et al. Among authors: hochner h. Obesity (Silver Spring). 2014 Apr;22(4):1165-71. doi: 10.1002/oby.20643. Epub 2013 Dec 5. Obesity (Silver Spring). 2014. PMID: 24124160 Free PMC article.
Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions.
Granot-Hershkovitz E, Wu P, Karasik D, Peter I, Peloso GM, Levy D, Vasan RS, Adrienne Cupples L, Liu CT, Meigs JB, Siscovick DS, Dupuis J, Friedlander Y, Hochner H. Granot-Hershkovitz E, et al. Among authors: hochner h. Eur J Hum Genet. 2020 May;28(5):646-655. doi: 10.1038/s41431-019-0568-1. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896779 Free PMC article.
Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.
Hochner H, Allard C, Granot-Hershkovitz E, Chen J, Sitlani CM, Sazdovska S, Lumley T, McKnight B, Rice K, Enquobahrie DA, Meigs JB, Kwok P, Hivert MF, Borecki IB, Gomez F, Wang T, van Duijn C, Amin N, Rotter JI, Stamatoyannopoulos J, Meiner V, Manor O, Dupuis J, Friedlander Y, Siscovick DS. Hochner H, et al. PLoS Genet. 2015 Oct 9;11(10):e1005573. doi: 10.1371/journal.pgen.1005573. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26451733 Free PMC article.
60 results