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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.
Am J Hum Genet. 2013.
PMID: 23332918
Free PMC article.
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC.
Lindgren AM, et al. Among authors: drautz jm.
Hum Genet. 2013 May;132(5):537-52. doi: 10.1007/s00439-013-1263-x. Epub 2013 Jan 25.
Hum Genet. 2013.
PMID: 23354975
Free PMC article.
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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG.
Rosenfeld JA, et al. Among authors: drautz jm.
Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.
Am J Med Genet A. 2011.
PMID: 21744490
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A new hypothesis of OCA1B.
Chiang PW, Drautz JM, Tsai AC, Spector E, Clericuzio CL.
Chiang PW, et al. Among authors: drautz jm.
Am J Med Genet A. 2008 Nov 15;146A(22):2968-70. doi: 10.1002/ajmg.a.32539.
Am J Med Genet A. 2008.
PMID: 18925668
No abstract available.
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA.
Gallione C, et al.
Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.
Am J Med Genet A. 2010.
PMID: 20101697
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