kw.\*:("Copy number variant")
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Autism geneticsPERSICO, Antonio M; NAPOLIONI, Valerio.Behavioural brain research. 2013, Vol 251, pp 95-112, issn 0166-4328, 18 p.Article
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohortsMORENO-DE-LUCA, D; SANDERS, S. J; WILLSEY, A. J et al.Molecular psychiatry. 2013, Vol 18, Num 10, pp 1090-1095, issn 1359-4184, 6 p.Article
High-resolution array genomic hybridization in prenatal diagnosisFRIEDMAN, J. M.Prenatal diagnosis. 2009, Vol 29, Num 1, pp 20-28, issn 0197-3851, 9 p.Conference Paper
Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended PedigreesMELHEM, Nadine; MIDDLETON, Frank; BYERLEY, William et al.Biological psychiatry (1969). 2011, Vol 70, Num 12, pp 1115-1121, issn 0006-3223, 7 p.Article
Epilepsy and the new cytogeneticsMULLEY, John C; MEFFORD, Heather C.Epilepsia (Copenhagen). 2011, Vol 52, Num 3, pp 423-432, issn 0013-9580, 10 p.Article
Microchromosomal deletions involving SCNIA and adjacent genes in severe myoclonic epilepsy in infancyWANG, Ji-Wen; KURAHASHI, Hirokazu; FUJII, Tatsuya et al.Epilepsia (Copenhagen). 2008, Vol 49, Num 9, pp 1528-1534, issn 0013-9580, 7 p.Article
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensSHAFFER, Lisa G; COPPINGER, Justine; ALLIMAN, Sarah et al.Prenatal diagnosis. 2008, Vol 28, Num 9, pp 789-795, issn 0197-3851, 7 p.Article
The Common Inversion of the Williams-Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical SymptomsTAM, Elaine; YOUNG, Edwin J; MORRIS, Colleen A et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1797-1806, issn 1552-4825, 10 p.Article
Guanosine Triphosphate Cyclohydrolase 1 Promoter Deletion Causes Dopa-Responsive DystoniaTHEUNS, Jessie; CROSIERS, David; MATTHEIJSSENS, Maria et al.Movement disorders. 2012, Vol 27, Num 11, pp 1451-1456, issn 0885-3185, 6 p.Article
Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorderPRIEBE, L; DEGENHARDT, F. A; ALBLAS, M et al.Molecular psychiatry. 2012, Vol 17, Num 4, pp 421-432, issn 1359-4184, 12 p.Article
Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical casesFIORENTINO, Francesco; CAIAZZO, Fiorina; BALDI, Marina et al.Prenatal diagnosis. 2011, Vol 31, Num 13, pp 1270-1282, issn 0197-3851, 13 p.Article
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarrayCOPPINGER, Justine; ALLIMAN, Sarah; LAMB, Allen N et al.Prenatal diagnosis. 2009, Vol 29, Num 12, pp 1156-1166, issn 0197-3851, 11 p.Article
Molecular diagnostics: between chips and customized medicineCASTALDO, Giuseppe; LEMBO, Francesca; TOMAIUOLO, Rossella et al.Clinical chemistry and laboratory medicine. 2010, Vol 48, Num 7, pp 973-982, issn 1434-6621, 10 p.Conference Paper
Rapid Publication Homozygous Deletions of a Copy Number Change Detected by Array CGH: A New Cause for Mental Retardation?CURRY, Cynthia J; RANG MAO; ASTON, Emily et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 15, pp 1903-1910, issn 1552-4825, 8 p.Article
Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1VERHAGEN, Judith M. A; DIDERICH, Karin E. M; SREBNIAK, Malgorzata I et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2412-2420, issn 1552-4825, 9 p.Article
Genomic profile of copy number variants on the short arm of human chromosome 8SHIHUI YU; FIEDLER, Stephanie; STEGNER, Andrew et al.European journal of human genetics. 2010, Vol 18, Num 10, pp 1114-1120, issn 1018-4813, 7 p.Article
Epi4K: Gene discovery in 4,000 genomesEpilepsia (Copenhagen). 2012, Vol 53, Num 8, pp 1457-1467, issn 0013-9580, 11 p.Article
A competitive PCR assay confirms the association of a copy number variation in the VIPR2 gene with schizophrenia in Han ChineseJIANMIN YUAN; CHUNHUI JIN; JIDONG WANG et al.Schizophrenia research. 2014, Vol 156, Num 1, pp 66-70, issn 0920-9964, 5 p.Article
Implications of Genetic Findings for Understanding SchizophreniaOWEN, Michael J.Schizophrenia bulletin. 2012, Vol 38, Num 5, pp 904-907, issn 0586-7614, 4 p.Article
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesVAN DEN VEYVER, Ignatia B; PATEL, Ankita; WEIMIN BI et al.Prenatal diagnosis. 2009, Vol 29, Num 1, pp 29-39, issn 0197-3851, 11 p.Conference Paper
Paternal age of schizophrenia probands and endophenotypic differences from unaffected siblingsSCHMEIDLER, James; LAZZERONI, Laura C; GUR, Raquel E et al.Psychiatry research (Print). 2014, Vol 219, Num 1, pp 67-71, issn 0165-1781, 5 p.Article
When orthologs diverge between human and mouse : Orthology and ApplicationsGHARIB, Walid H; ROBINSON-RECHAVI, Marc.Briefings in bioinformatics. 2011, Vol 12, Num 5, pp 436-441, issn 1467-5463, 6 p.Article
Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy lossRAJCAN-SEPAROVIC, E; DIEGO-ALVAREZ, D; STEPHENSON, M. D et al.Human reproduction (Oxford. Print). 2010, Vol 25, Num 11, pp 2913-2922, issn 0268-1161, 10 p.Article
Common Recurrent Microduplication Syndromes: Diagnosis and Management in Clinical Practice : Microduplication syndromesBERG, Jonathan S; POTOCKI, Lorraine; BACINO, Carlos A et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1066-1078, issn 1552-4825, 13 p.Article
Genetic Relationships Between Schizophrenia, Bipolar Disorder, and Schizoaffective Disorder : Relationship of Schizophrenia to Other Psychotic Disorders, Including Psychotic Bipolar DisorderCARDNO, Alastair G; OWEN, Michael J.Schizophrenia bulletin. 2014, Vol 40, Num 3, pp 504-515, issn 0586-7614, 12 p.Article