Interstitial deletion of 11(p11.2p12) : A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)POTOCKI, L; SHAFFER, L. G.American journal of medical genetics. 1996, Vol 62, Num 3, pp 319-325, issn 0148-7299Conference Paper

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11BARTSCH, O; WIM WUYTS; SHAFFER, L. G et al.American journal of human genetics. 1996, Vol 58, Num 4, pp 734-742, issn 0002-9297Article

New case of contiguous gene syndrome at chromosome 8p11.2p12CAU, M; CONGIU, R; ORIGA, R et al.American journal of medical genetics. 2005, Vol 136A, Num 2, pp 221-222, issn 0148-7299, 2 p.Article

Tiling path resolution mapping of constitutional 1 p36 deletions by array-CGH: contiguous gene deletion or deletion with positional effect syndrome?REDON, R; RIO, M; CORMIER-DAIRE, V et al.Journal of medical genetics. 2005, Vol 42, Num 2, pp 166-171, issn 0022-2593, 6 p.Article

Miller-Dieker syndrome: Analysis of a human contiguous gene syndrome in the mouseYINGLING, Jessica; TOYO-OKA, Kazuhito; WYNSHAW-BORIS, Anthony et al.American journal of human genetics. 2003, Vol 73, Num 3, pp 475-488, issn 0002-9297, 14 p.Article

Sensorineural deafness and male infertility : a contiguous gene deletion syndromeYUZHOU ZHANG; MALEKPOUR, Mahdi; AL-MADANI, Navid et al.Journal of medical genetics. 2007, Vol 44, Num 4, pp 233-240, issn 0022-2593, 8 p.Article

Smith-Magenis syndrome : a new contiguous gene syndrome. Report of three new casesMONCLA, A; LIVET, M. O; AUGER, M et al.Journal of medical genetics. 1991, Vol 28, Num 9, pp 627-632, issn 0022-2593Article

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHDBOYCOTT, Kym M; PARSLOW, Malcolm I; ROSS, Judith L et al.American journal of medical genetics. 2003, Vol 122A, Num 2, pp 139-147, issn 0148-7299, 9 p.Article

Combined Goltz and Aicardi Syndromes in a Terminal Xp deletion : Are They a Contiguous Gene Syndrome ?NARITOMI, K; IZUMIKAWA, Y; NAGATAKI, S et al.American journal of medical genetics. 1992, Vol 43, Num 5, pp 839-843, issn 0148-7299Article

Xp21 contiguous gene syndromes : deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpointsMCCABE, E. R. B; TOWBIN, J. A; VAN DEN ENGH, G et al.American journal of human genetics. 1992, Vol 51, Num 6, pp 1277-1285, issn 0002-9297Article

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesDELNATTE, Capucine; SANLAVILLE, Damien; VEKEMANS, Michel et al.American journal of human genetics. 2006, Vol 78, Num 6, pp 1066-1074, issn 0002-9297, 9 p.Article

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletionBREMOND-GIGNAC, Dominique; CROLLA, John A; COPIN, Henri et al.European journal of human genetics. 2005, Vol 13, Num 4, pp 409-413, issn 1018-4813, 5 p.Article

Neuroblastoma in a dwarfed newborn possible clue to the chromosomal localization of the gene for achondroplasia ?VERLOES, A; MASSART, B; JOSSA, V et al.Annales de génétique (Paris). 1991, Vol 34, Num 1, pp 25-26, issn 0003-3995, 2 p.Article

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions : fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiencyWORLEY, K. C; LINDSAY, E. A; BAILEY, W et al.American journal of medical genetics. 1995, Vol 57, Num 4, pp 615-619, issn 0148-7299Article

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of jacobsen syndromeWENGER, Sharon L; GROSSFELD, Paul D; SIU, Benjamin L et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 7, pp 704-708, issn 1552-4825, 5 p.Article

Hereditary spherocytic anemia with deletion of the short arm of chromosome 8OKAMOTO, N; WADA, Y; MIWA, S et al.American journal of medical genetics. 1995, Vol 58, Num 3, pp 225-229, issn 0148-7299Article

Two cases of 5q deletions in patients with familial adenomatous polyposis : possible link with Caroli's diseaseHODGSON, S. V; COONAR, A. S; HANSON, P. J. V et al.Journal of medical genetics. 1993, Vol 30, Num 5, pp 369-375, issn 0022-2593Article

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndromeSMITH, A; FRASER, I. S; SHEARMAN, R. P et al.Journal of medical genetics. 1989, Vol 26, Num 7, pp 434-438, issn 0022-2593Article

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of holt-oram and ulnar-mammary syndromesBOROZDIN, Wiktor; BRAVO-FERRER ACOSTA, Ana M; SEEMANOVA, Eva et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 17, pp 1880-1886, issn 1552-4825, 7 p.Article

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomaliesNOLEN, Leisha D; AMOR, David; JAMIESON, Robyn V et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 16, pp 1711-1718, issn 1552-4825, 8 p.Article

Deletions of VCX-A and NLGN4 : a variable phenotype including normal intellectMACAROV, M; ZEIGLER, M; NEWMAN, J. P et al.JIDR. Journal of intellectual disability research (Print). 2007, Vol 51, pp 329-333, issn 0964-2633, 5 p., 5Article

Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorderFITZPATRICK, D. R; STRAIN, L; THOMAS, A. E et al.Journal of medical genetics. 1997, Vol 34, Num 8, pp 666-669, issn 0022-2593Article

Molecular analysis of a patient with neurofibromatosis 1 and achondroplasiaPULST, S.-M; PRIBYL, T; BARKER, D. F et al.American journal of medical genetics. 1991, Vol 40, Num 1, pp 84-87, issn 0148-7299Article

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic featuresARADHYA, Swaroop; MANNING, Melanie A; SPLENDORE, Alessandra et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 13, pp 1431-1441, issn 1552-4825, 11 p.Article

Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)BERRY, R; WILSON, H; ROBINSON, J et al.American journal of medical genetics. 1989, Vol 34, Num 3, pp 358-365, issn 0148-7299Article