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Journal Abstract Search

167 related items for PubMed ID: 32028920

  • 1. Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
    Hadj Amor M, Dimassi S, Taj A, Slimani W, Hannachi H, Mlika A, Ben Helel K, Saad A, Mougou-Zerelli S.
    BMC Med Genet; 2020 Feb 06; 21(1):26. PubMed ID: 32028920
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  • 2. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
    Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.
    J Med Genet; 2009 Dec 06; 46(12):825-33. PubMed ID: 19584063
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  • 3. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
    Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2011 Dec 06; 54(3):287-91. PubMed ID: 21195811
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  • 4. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
    Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.
    BMC Med Genet; 2012 Oct 04; 13():93. PubMed ID: 23035971
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  • 6. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
    Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.
    Eur J Med Genet; 2010 Oct 04; 53(5):303-8. PubMed ID: 20599530
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  • 7. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay.
    Chen CP, Chang SY, Lin SP, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2018 Oct 04; 57(5):765-768. PubMed ID: 30342670
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  • 10. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
    Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.
    J Med Genet; 2010 May 04; 47(5):299-311. PubMed ID: 20452996
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  • 13. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
    Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.
    J Med Genet; 2009 Oct 04; 46(10):703-10. PubMed ID: 19520700
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  • 18. Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome.
    Czuchlewski DR, Andrews J, Madden R, Clericuzio CL, Zhang QY.
    J Pediatr Hematol Oncol; 2008 Nov 04; 30(11):865-8. PubMed ID: 18989166
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  • 20. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
    Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B.
    Genet Med; 2019 Jul 04; 21(7):1652-1656. PubMed ID: 30568308
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