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Items: 1 to 20 of 374

1.
2.

Applying Multivariate Adaptive Splines to Identify Genes With Expressions Varying After Diagnosis in Microarray Experiments.

Duan F, Xu Y.

Cancer Inform. 2017 May 4;16:1176935117705381. doi: 10.1177/1176935117705381. eCollection 2017. Review.

3.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

4.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

5.

Genetic Testing among Children in a Complex Care Program.

Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E.

Children (Basel). 2017 May 22;4(5). pii: E42. doi: 10.3390/children4050042.

6.

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.

Murray CR, Abel SN, McClure MB, Foster J 2nd, Walke MI, Jayakar P, Bademci G, Tekin M.

J Pediatr Genet. 2017 Jun;6(2):77-83. doi: 10.1055/s-0037-1598639. Epub 2017 Feb 14.

PMID:
28496994
7.

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

León LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM.

Sci Rep. 2017 May 11;7(1):1795. doi: 10.1038/s41598-017-01896-w.

8.

Chromosome microarray analysis in the investigation of children with congenital heart disease.

Wu XL, Li R, Fu F, Pan M, Han J, Yang X, Zhang YL, Li FT, Liao C.

BMC Pediatr. 2017 May 4;17(1):117. doi: 10.1186/s12887-017-0863-3.

9.

Detection of 1p36 deletion by clinical exome-first diagnostic approach.

Watanabe M, Hayabuchi Y, Ono A, Naruto T, Horikawa H, Kohmoto T, Masuda K, Nakagawa R, Ito H, Kagami S, Imoto I.

Hum Genome Var. 2016 May 12;3:16006. doi: 10.1038/hgv.2016.6. eCollection 2016.

10.

Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report.

Lee SH, Ryoo E, Tchah H.

Pediatr Gastroenterol Hepatol Nutr. 2017 Mar;20(1):65-70. doi: 10.5223/pghn.2017.20.1.65. Epub 2017 Mar 27.

11.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M.

Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Review.

12.

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

Hensel C, Vanzo R, Martin M, Dixon S, Lambert C, Levy B, Nelson L, Peiffer A, Ho KS, Rushton P, Serrano M, South S, Ward K, Wassman E.

PLoS Curr. 2017 Feb 27;9. pii: ecurrents.eogt.7d92ce775800ef3fbc72e3840fb1bc22. doi: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.

13.

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Ma R, Deng L, Xia Y, Wei X, Cao Y, Guo R, Zhang R, Guo J, Liang D, Wu L.

Sci Rep. 2017 Mar 21;7:44446. doi: 10.1038/srep44446.

14.

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

Reiner J, Karger L, Cohen N, Mehta L, Edelmann L, Scott SA.

J Mol Diagn. 2017 May;19(3):397-403. doi: 10.1016/j.jmoldx.2016.11.006. Epub 2017 Mar 18.

PMID:
28315673
15.

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

Maisenbacher MK, Merrion K, Pettersen B, Young M, Paik K, Iyengar S, Kareht S, Sigurjonsson S, Demko ZP, Martin KA.

Mol Cytogenet. 2017 Mar 9;10:6. doi: 10.1186/s13039-017-0308-6. eCollection 2017.

16.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017.

17.

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

Wang HD, Liu L, Wu D, Li T, Cui CY, Zhang LZ, Wang CZ.

J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2948.

18.

Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Rosenfeld JA, Patel A.

J Pediatr Genet. 2017 Mar;6(1):42-50. doi: 10.1055/s-0036-1584306. Epub 2016 May 30. Review.

PMID:
28180026
19.

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Grafodatskaya D, Choufani S, Basran R, Weksberg R.

J Pediatr Genet. 2017 Mar;6(1):3-17. doi: 10.1055/s-0036-1593840. Epub 2016 Nov 10. Review.

PMID:
28180023
20.

MLPA analysis in a cohort of patients with autism.

Peixoto S, Melo JB, Ferrão J, Pires LM, Lavoura N, Pinto M, Oliveira G, Carreira IM.

Mol Cytogenet. 2017 Feb 4;10:2. doi: 10.1186/s13039-017-0302-z. eCollection 2017.

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