Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndromeGRAHAM, B. H; BACINO, C. A.American journal of medical genetics. 2003, Vol 119A, Num 2, pp 234-237, issn 0148-7299, 4 p.Article

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH) : Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratoryATKINS, K. E; GREGG, A; SPIKES, A. S et al.American journal of medical genetics. 2000, Vol 91, Num 5, pp 377-382, issn 0148-7299Article

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1 : A brief reviewSTOCKTON, D. W; ROSS, H. L; BACINO, C. A et al.American journal of medical genetics. 1997, Vol 71, Num 2, pp 189-193, issn 0148-7299Article

Microarray based comparative genomic hybridization testing in deletion earing patients with angelman syndrome : genotype-phenotype correlationsSAHOO, T; PETERS, S. U; MADDURI, N. S et al.Journal of medical genetics. 2006, Vol 43, Num 6, pp 512-516, issn 0022-2593, 5 p.Article

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardationLENNON, P. A; COOPER, M. L; CURTIS, M. A et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 11, pp 1156-1163, issn 1552-4825, 8 p.Article

Identification of proximal 1p36 deletions using array-CGH : a possible new syndromeKANG, S.-H. L; SCHEFFER, A; BUCHHOLZ, J et al.Clinical genetics. 2007, Vol 72, Num 4, pp 329-338, issn 0009-9163, 10 p.Article

Terminal osseous dysplasia and pigmentary defects : Clinical characterization of a novel male lethal X-linked syndromeBACINO, C. A; STOCKTON, D. W; SIERRA, R. A et al.American journal of medical genetics. 2000, Vol 94, Num 2, pp 102-112, issn 0148-7299Article

Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heartBACINO, C. A; LEE, B; SPIKES, A. S et al.American journal of medical genetics. 1999, Vol 82, Num 2, pp 128-131, issn 0148-7299Article

Studies of TBX4 and Chromosome 17q23.1q23.2: An Uncommon Cause of Nonsyndromic ClubfootLU, W; BACINO, C. A; HECHT, J. T et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1620-1627, issn 1552-4825, 8 p.Article

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentSREENATH NAGAMANI, S. C; ZHANG, F; SPARAGANA, S et al.Journal of medical genetics. 2009, Vol 46, Num 12, pp 825-833, issn 0022-2593, 9 p.Article

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment : Clinical report and reviewLENNON, P. A; COOPER, M. L; PEIFFER, D. A et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 8, pp 791-798, issn 1552-4825, 8 p.Article

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probesBACINO, C. A; KASHORK, C. D; DAVINO, N. A et al.American journal of medical genetics. 2000, Vol 92, Num 4, pp 250-255, issn 0148-7299Article

The pointer syndrome : A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficultiesMAHBUDUL HUQ, A. H. M; BRAVERMAN, R. M; GREENBERG, F et al.American journal of medical genetics. 1997, Vol 68, Num 2, pp 225-230, issn 0148-7299Article