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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2008 | 5 |
2009 | 2 |
2024 | 0 |
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Page 1
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
J Med Genet. 2009 Sep;46(9):626-34. doi: 10.1136/jmg.2008.062471. Epub 2008 Dec 3.
J Med Genet. 2009.
PMID: 19052029
Free PMC article.
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A.
Brunetti-Pierri N, et al.
Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.
Nat Genet. 2008.
PMID: 19029900
Free PMC article.
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L.
Lalani SR, et al.
J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23.
J Med Genet. 2009.
PMID: 18812404
Free PMC article.
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW.
Shao L, et al.
Am J Med Genet A. 2008 Sep 1;146A(17):2242-51. doi: 10.1002/ajmg.a.32399.
Am J Med Genet A. 2008.
PMID: 18663743
Free PMC article.
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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M.
Roessler E, et al.
Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5.
Am J Hum Genet. 2008.
PMID: 18538293
Free PMC article.
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