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    Results: 1 to 20 of 286

    1.

    Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

    Carreira IM, Melo JB, Rodrigues C, Backx L, Vermeesch J, Weise A, Kosyakova N, Oliveira G, Matoso E.

    Mol Cytogenet. 2009 Aug 4;2:16.PMID: 19653912 [PubMed - in process]Related articlesFree article

    2.

    Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.

    Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataíde A, Miguel T, Saraiva J, Carreira I.

    J Autism Dev Disord. 2003 Apr;33(2):177-85.PMID: 12757357 [PubMed - indexed for MEDLINE]Related articles

    3.

    Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region.

    Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT.

    Am J Med Genet A. 2005 Jan 1;132A(1):84-9.PMID: 15551338 [PubMed - indexed for MEDLINE]Related articles

    4.

    Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.

    Murthy SK, Malhotra AK, Jacob PS, Naveed S, Al-Rowaished EE, Mani S, Padariyakam S, Pramathan R, Nath R, Al-Ali MT, Al-Gazali L.

    Mol Cytogenet. 2008 Aug 14;1:19.PMID: 18700989 [PubMed - in process]Related articlesFree article

    5.

    The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

    Battaglia A.

    Orphanet J Rare Dis. 2008 Nov 19;3:30. Review.PMID: 19019226 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.

    Daniel A, St Heaps L, Sylvester D, Diaz S, Peters G.

    Cell Chromosome. 2008 Mar 10;7:1.PMID: 18331649 [PubMed - in process]Related articlesFree article

    7.

    Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

    Leclercq S, Maincent K, Baverel F, Tessier DL, Letourneur F, Lebbar A, Dupont JM.

    Am J Med Genet A. 2009 Mar;149A(3):437-45.PMID: 19206177 [PubMed - indexed for MEDLINE]Related articles

    8.

    Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.

    Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY.

    Prenat Diagn. 2004 Oct;24(10):767-73. Review.PMID: 15503270 [PubMed - indexed for MEDLINE]Related articles

    9.

    [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

    10.

    A new case of dup(3q) syndrome due to a pure duplication of 3qter.

    Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF.

    Clin Genet. 2002 Oct;62(4):315-20.PMID: 12372060 [PubMed - indexed for MEDLINE]Related articles

    11.

    Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

    Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K.

    Am J Med Genet A. 2008 Aug 1;146A(15):1967-71.PMID: 18561337 [PubMed - indexed for MEDLINE]Related articles

    12.

    Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.

    Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H, Tuncbilek E, Liehr T.

    Mol Cytogenet. 2009 Jun 30;2:14.PMID: 19566937 [PubMed - in process]Related articlesFree article

    13.

    Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

    Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J.

    Am J Med Genet. 2001 Jul 1;101(3):226-39.PMID: 11424138 [PubMed - indexed for MEDLINE]Related articles

    14.

    A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

    Eussen BH, van de Laar I, Douben H, van Kempen L, Hochstenbach R, De Man SA, Van Opstal D, de Klein A, Poddighe PJ.

    Eur J Med Genet. 2007 Mar-Apr;50(2):112-9. Epub 2006 Nov 3.PMID: 17161033 [PubMed - indexed for MEDLINE]Related articles

    15.

    Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

    Gruchy N, Jacquemont ML, Lyonnet S, Labrune P, El Kamel I, Siffroi JP, Portnoï MF.

    Am J Med Genet A. 2007 Oct 15;143A(20):2417-22.PMID: 17853488 [PubMed - indexed for MEDLINE]Related articles

    16.

    Inverted duplications: how many of them are mosaic?

    Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O.

    Eur J Hum Genet. 2004 Sep;12(9):713-7.PMID: 15266302 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome.

    Leach NT, Chudoba I, Stewart TV, Holmes LB, Weremowicz S.

    Am J Med Genet A. 2007 Jul 1;143A(13):1489-93.PMID: 17551927 [PubMed - indexed for MEDLINE]Related articles

    18.

    Intrachromosomal triplication for the distal part of chromosome 15q.

    Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E.

    Am J Med Genet A. 2005 Jul 15;136(2):179-84. Review.PMID: 15940678 [PubMed - indexed for MEDLINE]Related articles

    19.

    Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.

    Portnoï MF, Boutchneï S, Bouscarat F, Morlier G, Nizard S, Dersarkissian H, Crickx B, Nouchy M, Taillemite JL, Belaich S.

    J Med Genet. 1999 Mar;36(3):246-50.PMID: 10204855 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

    Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T.

    J Appl Genet. 2007;48(2):167-75.PMID: 17495351 [PubMed - indexed for MEDLINE]Related articlesFree article

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