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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: Cassuto H. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: Cassuto H. Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1. Genome Med. 2019. PMID: 30909959 Free PMC article.
A mutation in the peroxisome proliferator-activated receptor gamma-binding site in the gene for the cytosolic form of phosphoenolpyruvate carboxykinase reduces adipose tissue size and fat content in mice.
Olswang Y, Cohen H, Papo O, Cassuto H, Croniger CM, Hakimi P, Tilghman SM, Hanson RW, Reshef L. Olswang Y, et al. Among authors: Cassuto H. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):625-30. doi: 10.1073/pnas.022616299. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792850 Free PMC article.
Glyceroneogenesis and the triglyceride/fatty acid cycle.
Reshef L, Olswang Y, Cassuto H, Blum B, Croniger CM, Kalhan SC, Tilghman SM, Hanson RW. Reshef L, et al. Among authors: Cassuto H. J Biol Chem. 2003 Aug 15;278(33):30413-6. doi: 10.1074/jbc.R300017200. Epub 2003 Jun 4. J Biol Chem. 2003. PMID: 12788931 Review. No abstract available.
Maturational delay in ADHD: evidence from CPT.
Berger I, Slobodin O, Aboud M, Melamed J, Cassuto H. Berger I, et al. Among authors: Cassuto H. Front Hum Neurosci. 2013 Oct 25;7:691. doi: 10.3389/fnhum.2013.00691. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24298243 Free PMC article.
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