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kw.\*:("Contiguous gene syndrome")

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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

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

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

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

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

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

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 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

Another critical region for deletion of 22q11 : A study of 100 patientsKURAHASHI, H; TSUDA, E; KOHAMA, R et al.American journal of medical genetics. 1997, Vol 72, Num 2, pp 180-185, issn 0148-7299Article

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

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDLONARDO, Fortunato; PARENTI, Giancarlo; SCARANO, Gioacchino et al.European journal of medical genetics. 2007, Vol 50, Num 4, pp 301-308, issn 1769-7212, 8 p.Article

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancerLUCCI-CORDISCO, E; ZOLLINO, M; BAGLIONI, S et al.Clinical genetics. 2005, Vol 67, Num 2, pp 178-182, issn 0009-9163, 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

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