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

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

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

Contiguous ∼16 Mb 1p36 Deletion: Dominant Features of Classical Distal 1p36 Monosomy With Hapio-LethalityNICOULAZ, A; RUBI, F; CONRAD, B et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 8, pp 1964-1968, issn 1552-4825, 5 p.Article

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseMICALE, Lucia; FUSCO, Carmela; AUGELLO, Bartolomeo et al.European journal of human genetics. 2008, Vol 16, Num 9, pp 1038-1049, issn 1018-4813, 12 p.Article

The Xp Contiguous Deletion Syndrome and AutismSHINAWI, Marwan; PATEL, Ankita; PANICHKUL, Prisana et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1138-1148, issn 1552-4825, 11 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

Tetralogy of Fallot Associated With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries in a Patient With Interstitial Deletion of 16q21-q22.1YAMAMOTO, Toshiyuki; DOWA, Yuri; UEDA, Hideaki et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 12, pp 1575-1580, issn 1552-4825, 6 p.Article

A Novel Contiguous Gene Deletion of AVPR2 and ARHGAP4 Genes in Male Dizygotic Twins With Nephrogenic Diabetes Insipidus and Intellectual DisabilityLINGLI HUANG; POKE, Gemma; GECZ, Jozef et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2511-2518, issn 1552-4825, 8 p.Article

Congenital Diaphragmatic Hernia in Smith-Magenis Syndrome: A Possible Locus at Chromosome 17p11.2SANFORD, E. F; BERMUDEZ-WAGNER, K; JENG, L. J. B et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2816-2820, issn 1552-4825, 5 p.Article

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

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

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

1.9 Mb Microdeletion of 21q22.11 Within Braddock―Carey Contiguous Gene Deletion Syndrome Region: Dissecting the PhenotypeIZUMI, Kosuke; BROOKS, Susan S; FERET, Holly A et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1535-1541, issn 1552-4825, 7 p.Article

Nephrogenic Diabetes Insipidus in a Patient With L1 Syndrome : A New Report of a Contiguous Gene Deletion Syndrome Including L1CAM and AVPR2KNOPS, Noel B. B; BOS, Krista K; KERSTJENS, Mieke et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1853-1858, issn 1552-4825, 6 p.Article

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeWIELAND, I; WEIDNER, C; WIEACKER, P et al.Clinical genetics. 2007, Vol 72, Num 6, pp 506-516, issn 0009-9163, 11 p.Article

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeCONSUGAR, Mark B; WONG, Wai C; DAVID, Albert et al.Kidney international. 2008, Vol 74, Num 11, pp 1468-1479, issn 0085-2538, 12 p.Article

Revisión de 22 casos de deleción 22q11.2 : espectro fenotípico = REVIEW OF 22 PATIENTS WITH 22q11.2 DELETION SYNDROME : PHENOTYPE SPECTRUMBALLESTA MARTINEZ, M. J; GUILLEN NAVARRO, E; LOPEZ EXPOSITO, I et al.Anales de pediatria (2003. Ed. impresa). 2008, Vol 69, Num 4, pp 304-310, issn 1695-4033, 7 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

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvansCASTORI, Marco; COVACIU, Claudia; PARADISI, Mauro et al.European journal of medical genetics. 2009, Vol 52, Num 1, pp 53-58, issn 1769-7212, 6 p.Article

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriolsLANGLOIS, Sylvie; ARMSTRONG, Linlea; MATTMAN, André et al.Prenatal diagnosis. 2009, Vol 29, Num 10, pp 966-974, issn 0197-3851, 9 p.Article

TSC2/PKD1 Contiguous Gene Syndrome: A Report of 2 Cases With Emphasis on Dermatopathologic FindingsKACEROVSKA, Denisa; VRTEL, Radek; V KAZAKOV, Dmitry et al.The American journal of dermatopathology. 2009, Vol 31, Num 6, pp 532-541, issn 0193-1091, 10 p.Article

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patientPASMANT, Eric; DE SAINT-TRIVIER, Aurélie; LAURENDEAU, Ingrid et al.European journal of human genetics. 2008, Vol 16, Num 12, pp 1459-1466, issn 1018-4813, 8 p.Article

Syndrome des gènes contigus TSC2/PKD1. À propos de deux observations = TSC2/PKD1 contiguous gene syndrome. Report of two casesYADADEN, Tarik; MOLINIE, Vincent; PLES, Raluca et al.Annales de pathologie (Paris). 2007, Vol 27, Num 2, pp 136-140, issn 0242-6498, 5 p.Article