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    Results: 1 to 20 of 103

    1.

    Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

    Manolakos E, Orru S, Neroutsou R, Kefalas K, Louizou E, Papoulidis I, Thomaidis L, Peitsidis P, Sotiriou S, Kitsos G, Tsoplou P, Petersen MB, Metaxotou A.

    Mol Cytogenet. 2009 Dec 9;2:26.

    PMID:
    20003197
    [PubMed]
    Free PMC Article
    2.

    Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

    Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.

    Mol Cytogenet. 2008 Nov 11;1:23.

    PMID:
    19000322
    [PubMed]
    Free PMC Article
    3.

    Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

    Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R.

    Am J Med Genet A. 2008 Oct 1;146A(19):2449-54.

    PMID:
    18792974
    [PubMed - indexed for MEDLINE]
    4.

    A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.

    Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.

    Clin Dysmorphol. 2007 Oct;16(4):231-9. Review.

    PMID:
    17786114
    [PubMed - indexed for MEDLINE]
    5.

    Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

    Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M.

    Am J Med Genet A. 2011 Sep;155A(9):2281-7. doi: 10.1002/ajmg.a.34162. Epub 2011 Aug 10.

    PMID:
    21834034
    [PubMed - in process]
    6.

    Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

    Ji T, Wu Y, Wang H, Wang J, Jiang Y.

    J Hum Genet. 2010 Aug;55(8):486-9. Epub 2010 Jun 3.

    PMID:
    20520618
    [PubMed - indexed for MEDLINE]
    7.

    Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.

    Jamsheer A, Smyk M, Wierzba J, Kołowska J, Woźniak A, Skołozdrzy J, Fischer M, Latos-Bieleńska A.

    J Appl Genet. 2008;49(4):397-405.

    PMID:
    19029687
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

    Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M.

    Am J Med Genet A. 2006 Apr 1;140(7):704-8.

    PMID:
    16502431
    [PubMed - indexed for MEDLINE]
    9.

    Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

    Murthy SK, Nygren AO, El Shakankiry HM, Schouten JP, Al Khayat AI, Ridha A, Al Ali MT.

    Cytogenet Genome Res. 2007;116(1-2):135-40.

    PMID:
    17268193
    [PubMed - indexed for MEDLINE]
    10.

    Prenatal diagnosis of mosaicism for 11q terminal deletion.

    Valduga M, Cannard VL, Philippe C, Romana S, Miton A, Droulle P, Foliguet B, Lecompte T, Jonveaux P.

    Eur J Med Genet. 2007 Nov-Dec;50(6):475-81. Epub 2007 Jul 17.

    PMID:
    17761465
    [PubMed - indexed for MEDLINE]
    11.

    Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.

    Afifi HH, Zaki MS, El-Gerzawy AM, Kayed HF.

    Genet Couns. 2008;19(1):47-58.

    PMID:
    18564501
    [PubMed - indexed for MEDLINE]
    12.

    Jacobsen syndrome.

    Mattina T, Perrotta CS, Grossfeld P.

    Orphanet J Rare Dis. 2009 Mar 7;4:9. Review.

    PMID:
    19267933
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.

    Böhm D, Hoffmann K, Laccone F, Wilken B, Dechent P, Frahm J, Bartels I, Bohlander SK.

    Am J Med Genet A. 2006 Feb 15;140(4):378-82.

    PMID:
    16419136
    [PubMed - indexed for MEDLINE]
    14.

    Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

    Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW.

    Am J Med Genet A. 2008 Sep 1;146A(17):2242-51.

    PMID:
    18663743
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

    Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

    Pediatrics. 2001 Nov;108(5):E92.

    PMID:
    11694676
    [PubMed - indexed for MEDLINE]
    16.

    Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

    Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

    Eur J Hum Genet. 2007 May;15(5):548-55. Epub 2007 Mar 7.

    PMID:
    17342151
    [PubMed - indexed for MEDLINE]
    Free Article
    17.

    The use of array-CGH in a cohort of Greek children with developmental delay.

    Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L.

    Mol Cytogenet. 2010 Nov 9;3:22.

    PMID:
    21062444
    [PubMed]
    Free PMC Article
    18.

    Partial deletion of the long arm of chromosome 11: ten Japanese children.

    Ono J, Hasegawa T, Sugama S, Sagehashi N, Hase Y, Oku K, Endo Y, Ohdo S, Ishikiriyama S, Tsukamoto H, Okada S.

    Clin Genet. 1996 Dec;50(6):474-8.

    PMID:
    9147876
    [PubMed - indexed for MEDLINE]
    19.

    A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

    Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P.

    Mol Cytogenet. 2011 Sep 21;4:19.

    PMID:
    21936942
    [PubMed]
    Free PMC Article
    20.

    The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

    Genet Med. 2007 Sep;9(9):607-16. Review.

    PMID:
    17873649
    [PubMed - indexed for MEDLINE]

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