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    Results: 1 to 20 of 389

    1.

    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

    Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR.

    J Med Genet. 2008 Feb;45(2):71-80. Epub 2007 Sep 14.PMID: 17873117 [PubMed - indexed for MEDLINE]Related articles

    2.

    On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

    Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.

    Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. Review.PMID: 18932124 [PubMed - indexed for MEDLINE]Related articles

    3.

    Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

    South ST, Whitby H, Battaglia A, Carey JC, Brothman AR.

    Eur J Hum Genet. 2008 Jan;16(1):45-52. Epub 2007 Aug 29.PMID: 17726485 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

    Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.

    Am J Med Genet. 2000 Sep 18;94(3):254-61.PMID: 10995514 [PubMed - indexed for MEDLINE]Related articles

    5.

    Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

    Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O.

    J Med Genet. 2007 Oct;44(10):647-50.PMID: 17911656 [PubMed - indexed for MEDLINE]Related articles

    6.

    Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

    Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M.

    Eur J Hum Genet. 2007 Nov;15(11):1132-8. Epub 2007 Jul 18.PMID: 17637805 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

    Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G.

    Eur J Hum Genet. 2000 Jul;8(7):519-26.PMID: 10909852 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

    Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.

    J Med Genet. 2004 Feb;41(2):113-9.PMID: 14757858 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

    Benussi DG, Costa P, Zollino M, Murdolo M, Petix V, Carrozzi M, Pecile V.

    Genet Test Mol Biomarkers. 2009 Apr;13(2):199-204.PMID: 19378504 [PubMed - indexed for MEDLINE]Related articles

    10.

    Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

    Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR.

    J Med Genet. 2004 Sep;41(9):691-8. No abstract available. PMID: 15342700 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

    Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G.

    Am J Hum Genet. 2003 Mar;72(3):590-7. Epub 2003 Jan 30.PMID: 12563561 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.

    Chao A, Lee YS, Chao AS, Wang TH, Chang SD.

    Birth Defects Res A Clin Mol Teratol. 2006 Oct;76(10):739-43.PMID: 17022067 [PubMed - indexed for MEDLINE]Related articles

    13.

    Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

    Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, de Ståhl TD, Dumanski JP, Carroll AJ.

    Am J Med Genet A. 2007 Aug 1;143A(15):1760-6.PMID: 17603794 [PubMed - indexed for MEDLINE]Related articles

    14.

    Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

    South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M.

    Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4.PMID: 18932125 [PubMed - indexed for MEDLINE]Related articles

    15.

    Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

    Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.

    Am J Med Genet A. 2007 Aug 15;143A(16):1858-67.PMID: 17632778 [PubMed - indexed for MEDLINE]Related articles

    16.

    Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

    Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E.

    Am J Med Genet A. 2004 Jun 1;127A(2):197-200.PMID: 15108211 [PubMed - indexed for MEDLINE]Related articles

    17.

    Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

    Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F.

    Cytogenet Genome Res. 2009;125(2):103-8. Epub 2009 Aug 31.PMID: 19729912 [PubMed - indexed for MEDLINE]Related articles

    18.

    A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

    Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G.

    Eur J Hum Genet. 2004 Oct;12(10):797-804.PMID: 15241479 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.

    Battaglia A, Filippi T, Carey JC.

    Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):246-51.PMID: 18932224 [PubMed - indexed for MEDLINE]Related articles

    20.

    High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome.

    Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF.

    Am J Med Genet. 1997 Sep 5;71(4):453-7.PMID: 9286454 [PubMed - indexed for MEDLINE]Related articles

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