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346 results
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Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.
Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Cheung SW, et al. Among authors: shaffer lg. Am J Med Genet. 1997 Oct 3;72(1):47-50. doi: 10.1002/(sici)1096-8628(19971003)72:1<47::aid-ajmg10>;2-u. Am J Med Genet. 1997. PMID: 9295074
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Among authors: shaffer lg. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. Shaffer LG, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):335-45. doi: 10.1002/ajmg.c.30152. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910076 Review.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Tsuchiya KD, Shaffer LG, Aradhya S, Gastier-Foster JM, Patel A, Rudd MK, Biggerstaff JS, Sanger WG, Schwartz S, Tepperberg JH, Thorland EC, Torchia BA, Brothman AR. Tsuchiya KD, et al. Among authors: shaffer lg. Genet Med. 2009 Dec;11(12):866-73. doi: 10.1097/GIM.0b013e3181c0c3b0. Genet Med. 2009. PMID: 19904209
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Talkowski ME, et al. Among authors: shaffer lg. N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594. N Engl J Med. 2012. PMID: 23215558 Free PMC article.
Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.
Shaffer LG, Rosenfeld JA. Shaffer LG, et al. Expert Rev Mol Diagn. 2013 Jul;13(6):601-11. doi: 10.1586/14737159.2013.811912. Expert Rev Mol Diagn. 2013. PMID: 23895129 Review.
Prenatal diagnosis using array CGH.
Kashork CD, Theisen A, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Methods Mol Biol. 2008;444:59-69. doi: 10.1007/978-1-59745-066-9_5. Methods Mol Biol. 2008. PMID: 18425472
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.
Shaffer LG, Bui TH. Shaffer LG, et al. Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):87-98. doi: 10.1002/ajmg.c.30114. Am J Med Genet C Semin Med Genet. 2007. PMID: 17290441 Review.
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.
Shaffer LG. Shaffer LG. Prenat Diagn. 2006 Apr;26(4):303-7. doi: 10.1002/pd.1384. Prenat Diagn. 2006. PMID: 16491515
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: shaffer lg. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
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