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

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

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

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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

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

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

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

Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14SKRYPNYK, Cristina; BARTSCH, Oliver.American journal of medical genetics. 2004, Vol 124A, Num 4, pp 397-401, issn 0148-7299, 5 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

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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

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

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

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

The Clinical Spectrum Associated With a Chromosome 17 Short Arm Proximal Duplication (dup 17pll.2) in Three PatientsDOCO-FENZY, Martine; HOLDER-ESPINASSE, Muriel; SCHNEIDER, Anouck et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 7, pp 917-924, issn 1552-4825, 8 p.Article

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with norrie disease, severe psychomotor retardation and myoclonic epilepsyRODRIGUEZ-REVENGA, L; MADRIGAL, I; ALKHALIDI, L. S et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 9, pp 916-920, issn 1552-4825, 5 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

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

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