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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: Pastore M. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
Trisomy 16p: a longitudinal profile and photo essay.
Sommer A, Pastore M, Wenger G. Sommer A, et al. Among authors: Pastore M. Am J Med Genet A. 2006 Jan 15;140(2):174-9. doi: 10.1002/ajmg.a.31027. Am J Med Genet A. 2006. PMID: 16353251
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
McGill AK, Pastore MT, Herman GE, Alliman S, Rosenfeld JA, Weaver DD. McGill AK, et al. Among authors: Pastore MT. Am J Med Genet A. 2010 Apr;152A(4):1000-7. doi: 10.1002/ajmg.a.33339. Am J Med Genet A. 2010. PMID: 20358616
Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. Cottrell CE, et al. Among authors: Pastore M. Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4. Clin Genet. 2012. PMID: 21480868
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Polan MB, Pastore MT, Steingass K, Hashimoto S, Thrush DL, Pyatt R, Reshmi S, Gastier-Foster JM, Astbury C, McBride KL. Polan MB, et al. Among authors: Pastore MT. Eur J Hum Genet. 2014 Jan;22(1):105-9. doi: 10.1038/ejhg.2013.99. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695283 Free PMC article.
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.
Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C. Pfau RB, et al. Among authors: Pastore M. Eur J Med Genet. 2013 Nov;56(11):609-13. doi: 10.1016/j.ejmg.2013.09.007. Epub 2013 Sep 27. Eur J Med Genet. 2013. PMID: 24080358
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D. Kuechler A, et al. Among authors: Pastore M. Hum Genet. 2015 Jan;134(1):97-109. doi: 10.1007/s00439-014-1498-1. Epub 2014 Oct 19. Hum Genet. 2015. PMID: 25326669
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