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    Results: 1 to 20 of 55

    1.

    Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

    Kitsiou-Tzeli S, Manolakos E, Lagou M, Anagnostopoulou K, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A.

    Mol Cytogenet. 2009 Feb 20;2:8. No abstract available. PMID: 19232114 [PubMed - in process]Free PMC ArticleFree textRelated citations

    2.

    Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

    Kitsiou-Tzeli S, Manolakos E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A.

    Mol Cytogenet. 2009 Jan 7;2:1.PMID: 19128450 [PubMed - in process]Free PMC ArticleFree textRelated citations

    3.

    Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

    Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

    Cytogenet Genome Res. 2009;125(2):109-14. Epub 2009 Aug 31.PMID: 19729913 [PubMed - indexed for MEDLINE]Related citations

    4.

    Handling small supernumerary marker chromosomes in prenatal diagnostics.

    Liehr T, Ewers E, Kosyakova N, Klaschka V, Rietz F, Wagner R, Weise A.

    Expert Rev Mol Diagn. 2009 May;9(4):317-24. Review.PMID: 19435454 [PubMed - indexed for MEDLINE]Related citations

    5.

    Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20.

    Callier P, Faivre L, Pigeonnat S, Quilichini B, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Rousseau T, Sagot P, Laurent N, Mugneret F.

    Prenat Diagn. 2009 Oct;29(10):1002-5. No abstract available. PMID: 19670346 [PubMed - indexed for MEDLINE]Related citations

    6.

    10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.

    Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A.

    Cytogenet Genome Res. 2009;124(1):102-5. Epub 2009 Apr 15.PMID: 19372675 [PubMed - indexed for MEDLINE]Related citations

    7.

    Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

    Jovanović-Privrodski JD, Kavecan II, Obrenović MR, Buonadonna LA, Bukvić NM.

    Pediatr Neurol. 2009 Jul;41(1):65-7.PMID: 19520280 [PubMed - indexed for MEDLINE]Related citations

    8.

    Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux.

    Champaigne NL, Laird NA, Northup JK, Velagaleti GV.

    Am J Med Genet A. 2009 Feb 15;149A(4):751-4.PMID: 19291769 [PubMed - indexed for MEDLINE]Related citations

    9.

    Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.

    Hilhorst-Hofstee Y, Tümer Z, Born P, Knijnenburg J, Hansson K, Yatawara V, Steensberg J, Ullmann R, Arkesteijn G, Tommerup N, Larsen LA.

    Am J Med Genet A. 2009 Aug;149A(8):1830-3. No abstract available. PMID: 19610119 [PubMed - indexed for MEDLINE]Related citations

    10.

    The Genetics and Clinical Characteristics of Constitutional Ring Chromosomes.

    Kosztolányi G Md Dsc.

    J Assoc Genet Technol. 2009;35(2):44-48.PMID: 19443954 [PubMed - as supplied by publisher]Related citations

    11.

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

    Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

    Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. Epub 2009 Jun 6.PMID: 19505601 [PubMed - indexed for MEDLINE]Related citations

    12.

    Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

    Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L.

    Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. Epub 2009 Apr 18.PMID: 19379847 [PubMed - indexed for MEDLINE]Related citations

    13.

    Characterization of de novo synthesized proteins released from human colorectal tumour explants.

    Shi HJ, Stubbs R, Hood K.

    Electrophoresis. 2009 Jul;30(14):2442-53.PMID: 19639566 [PubMed - indexed for MEDLINE]Related citations

    14.

    Risk factors for developing de novo autoimmune hepatitis associated with anti-glutathione S-transferase T1 antibodies after liver transplantation.

    Salcedo M, Rodríguez-Mahou M, Rodríguez-Sainz C, Rincón D, Alvarez E, Vicario JL, Catalina MV, Matilla A, Ripoll C, Clemente G, Bañares R.

    Liver Transpl. 2009 May;15(5):530-9.PMID: 19399747 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    15.

    Therapy-related acute myeloid leukemia with t(8;21) (q22;q22) shares many features with de novo acute myeloid leukemia with t(8;21)(q22;q22) but does not have a favorable outcome.

    Gustafson SA, Lin P, Chen SS, Chen L, Abruzzo LV, Luthra R, Medeiros LJ, Wang SA.

    Am J Clin Pathol. 2009 May;131(5):647-55.PMID: 19369623 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    16.

    [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome]

    Zhu XW, Pan H, Li MR, Bao XH, Zhang JJ, Wu XR.

    Zhonghua Er Ke Za Zhi. 2009 Aug;47(8):565-9. Chinese. PMID: 19951486 [PubMed - in process]Related citations

    17.

    Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

    Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S.

    Eur J Med Genet. 2009 Sep-Oct;52(5):328-32. Epub 2009 May 18.PMID: 19454329 [PubMed - indexed for MEDLINE]Related citations

    18.

    A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male.

    Ergul E, Liehr T, Mrasek K, Sazci A.

    Fertil Steril. 2009 Jul;92(1):391.e9-391.e12. Epub 2009 Apr 14.PMID: 19368909 [PubMed - indexed for MEDLINE]Related citations

    19.

    High frequency of de novo mutations in Li-Fraumeni syndrome.

    Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS.

    J Med Genet. 2009 Oct;46(10):689-93. Epub 2009 Jun 25.PMID: 19556618 [PubMed - indexed for MEDLINE]Related citations

    20.

    Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.

    Carter MT, Jacob FD, Sinclair-Bourque E, Ray R, Allanson JE.

    Clin Dysmorphol. 2009 Apr;18(2):103-6.PMID: 19282755 [PubMed - indexed for MEDLINE]Related citations

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