Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 20 of 104

    1.

    8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

    Tsai CH, Graw SL, McGavran L.

    J Med Genet. 2002 Oct;39(10):769-74. No abstract available. PMID: 12362038 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

    Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.

    Eur J Hum Genet. 2008 Jan;16(1):18-27. Epub 2007 Oct 17.PMID: 17940555 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

    Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y.

    Clin Genet. 2008 May;73(5):502-3. Epub 2008 Mar 11. No abstract available. PMID: 18336587 [PubMed - indexed for MEDLINE]Related articles

    4.

    Duplication of 8p23.2: a benign cytogenetic variant?

    Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N.

    Am J Med Genet. 2002 Aug 15;111(3):285-8.PMID: 12210324 [PubMed - indexed for MEDLINE]Related articles

    5.

    Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

    Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T.

    Eur J Hum Genet. 2005 Oct;13(10):1131-6.PMID: 16077733 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

    Engelen JJ, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CT.

    Am J Med Genet A. 2005 Jan 30;132A(3):276-7.PMID: 15578614 [PubMed - indexed for MEDLINE]Related articles

    7.

    Toriello-Carey syndrome phenotype and chromosome anomalies.

    Toriello HV, Hatchwell E.

    Am J Med Genet A. 2008 Jan 1;146A(1):116. No abstract available. PMID: 18074373 [PubMed - indexed for MEDLINE]Related articles

    8.

    Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.

    Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM.

    Eur J Hum Genet. 2007 Jan;15(1):45-52. Epub 2006 Sep 20.PMID: 16985501 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

    Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C.

    Eur J Hum Genet. 2005 May;13(5):690-3. Review.PMID: 15770228 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.

    Courseaux A, Richard F, Grosgeorge J, Ortola C, Viale A, Turc-Carel C, Dutrillaux B, Gaudray P, Nahon JL.

    Genome Res. 2003 Mar;13(3):369-81.PMID: 12618367 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

    Páez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R.

    Am J Med Genet A. 2008 May 1;146A(9):1158-65.PMID: 18393291 [PubMed - indexed for MEDLINE]Related articles

    12.

    Variant euchromatic band within 16q12.1.

    Verma RS, Kleyman SM, Conte RA.

    Clin Genet. 1997 Dec;52(6):446-7.PMID: 9520257 [PubMed - indexed for MEDLINE]Related articles

    13.

    Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

    Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

    BMC Med Genet. 2008 Apr 11;9:27.PMID: 18405349 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

    Milunsky JM, Huang XL.

    Clin Genet. 2003 Dec;64(6):509-16.PMID: 14986831 [PubMed - indexed for MEDLINE]Related articles

    15.

    Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

    Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE.

    Am J Med Genet A. 2006 Jan 15;140(2):170-3.PMID: 16353235 [PubMed - indexed for MEDLINE]Related articles

    16.

    Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

    Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK.

    Nature. 2005 Apr 7;434(7034):724-31.PMID: 15815621 [PubMed - indexed for MEDLINE]Related articles

    17.

    Estimate of prevalence of proximal 15q duplication syndrome.

    Moeschler JB, Mohandas TK, Hawk AB, Noll WW.

    Am J Med Genet. 2002 Sep 1;111(4):440-2. No abstract available. PMID: 12210307 [PubMed - indexed for MEDLINE]Related articles

    18.

    [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]

    Bocian E, Nowakowska B, Obersztyn E, Borg K, Chudoba I, Kostyk E, Kruczek A, Pietrzyk J, Mazurczak T.

    Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):211-25. Polish. PMID: 17028390 [PubMed - indexed for MEDLINE]Related articles

    19.

    Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations.

    O'Malley DP, Storto PD.

    Prenat Diagn. 1999 Feb;19(2):183-4. No abstract available. PMID: 10215083 [PubMed - indexed for MEDLINE]Related articles

    20.

    Duplication 8 [inv dup(8)(p12p23)] with macrocephaly.

    Tonk VS, Wilson GN, Velagaleti GV.

    Ann Genet. 2001 Oct-Dec;44(4):195-9.PMID: 11755105 [PubMed - indexed for MEDLINE]Related articles

    Supplemental Content

    Find related data