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kw.\*:("Síndrome de genes contiguos")

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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

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

MODY Type 2 in Greig Cephalopolysyndactyly Syndrome (GCPS) as Part of a Contiguous Gene Deletion SyndromeAMNON ZUNG; PETEK, Erwin; BEN-ZEEV, Bruria et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2469-2472, issn 1552-4825, 4 p.Article

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

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

Haploinsufficiency of STK11 and Neighboring Genes Cause a Contiguous Gene Syndrome Including Peutz―Jeghers PhenotypeSCOLLON, Sarah; MCWALTER, Kirsty; ABE, Keith et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2959-2962, issn 1552-4825, 4 p.Article

Ectodermal Dysplasia-Like Syndrome With Mental Retardation Due To Contiguous Gene Deletion: Further Clinical and Molecular Delineation of del(2q32) SyndromeRIFAI, Laila; PORT-LIS, Marylin; TABET, Anne-Claude et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 1, pp 111-117, issn 1552-4825, 7 p.Article

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidusTEGAY, David H; LANE, Andrew H; ROOHI, Jasmin et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 6, pp 594-598, 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

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