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Journal Abstract Search

217 related items for PubMed ID: 31044557

  • 1. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
    Lundin J, Markljung E, Baranowska Körberg I, Hofmeister W, Cao J, Nilsson D, Holmdahl G, Barker G, Anderberg M, Vukojević V, Lindstrand A, Nordenskjöld A.
    Mol Genet Genomic Med; 2019 Jun; 7(6):e666. PubMed ID: 31044557
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  • 3. Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
    Draaken M, Baudisch F, Timmermann B, Kuhl H, Kerick M, Proske J, Wittler L, Pennimpede T, Ebert AK, Rösch W, Stein R, Bartels E, von Lowtzow C, Boemers TM, Herms S, Gearhart JP, Lakshmanan Y, Kockum CC, Holmdahl G, Läckgren G, Nordenskjöld A, Boyadjiev SA, Herrmann BG, Nöthen MM, Ludwig M, Reutter H.
    Birth Defects Res A Clin Mol Teratol; 2014 Jun; 100(6):512-7. PubMed ID: 24764164
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  • 5. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
    Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H.
    Biomolecules; 2023 Jul 13; 13(7):. PubMed ID: 37509153
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  • 6. Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.
    Beaman GM, Woolf AS, Lopes FM, Guo SA, Harkness JR, Cervellione RM, Keene D, Mushtaq I, Clatworthy MR, Newman WG.
    J Pediatr Urol; 2022 Jun 13; 18(3):362.e1-362.e8. PubMed ID: 35491304
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  • 10. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.
    Draaken M, Mughal SS, Pennimpede T, Wolter S, Wittler L, Ebert AK, Rösch W, Stein R, Bartels E, Schmidt D, Boemers TM, Schmiedeke E, Hoffmann P, Moebus S, Herrmann BG, Nöthen MM, Reutter H, Ludwig M.
    Birth Defects Res A Clin Mol Teratol; 2013 Mar 13; 97(3):133-9. PubMed ID: 23359465
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  • 15. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
    Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.
    Gene; 2014 Feb 15; 536(1):213-6. PubMed ID: 24315824
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  • 18. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
    Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L.
    BMC Pediatr; 2015 Aug 22; 15():95. PubMed ID: 26297018
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  • 19. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
    Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F.
    Prenat Diagn; 2015 Jan 22; 35(1):35-43. PubMed ID: 25118001
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  • 20. Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex.
    Wilkins S, Zhang KW, Mahfuz I, Quantin R, D'Cruz N, Hutson J, Ee M, Bagli D, Aitken K, Fong FN, Ng PK, Tsui SK, Fung WY, Banu T, Thakre A, Johar K, Jaureguizar E, Li L, Cheng W.
    PLoS Genet; 2012 Jan 22; 8(12):e1003070. PubMed ID: 23284286
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