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Journal Abstract Search
266 related items for PubMed ID: 27842301
1. Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. Bragagnolo S, Colovati ME, Guilherme RS, Dantas AG, de Souza MZ, de Soares MF, Melaragno MI, Perez AB. Cytogenet Genome Res; 2016; 150(1):17-22. PubMed ID: 27842301 [Abstract] [Full Text] [Related]
3. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. Am J Med Genet A; 2008 Oct 15; 146A(20):2691-7. PubMed ID: 18798325 [Abstract] [Full Text] [Related]
4. Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p. Liang D, Zhou Z, Meng D, Du J, Wen J, Niikawa N, Wu L. Birth Defects Res A Clin Mol Teratol; 2012 Jul 15; 94(7):549-52. PubMed ID: 22641563 [Abstract] [Full Text] [Related]
6. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. Am J Med Genet C Semin Med Genet; 2008 Nov 15; 148C(4):257-69. PubMed ID: 18932124 [Abstract] [Full Text] [Related]
13. Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A. J Med Genet; 2016 Apr 15; 53(4):256-63. PubMed ID: 26747863 [Abstract] [Full Text] [Related]
14. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Eur J Hum Genet; 2008 Jan 15; 16(1):45-52. PubMed ID: 17726485 [Abstract] [Full Text] [Related]
15. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D. Epilepsia; 2014 Jun 15; 55(6):849-57. PubMed ID: 24738919 [Abstract] [Full Text] [Related]
16. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion. Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F. Cytogenet Genome Res; 2009 Jun 15; 125(2):103-8. PubMed ID: 19729912 [Abstract] [Full Text] [Related]
17. [Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome]. Li F, Wu A, Xie X, Ma M, Tang J, Tang S, Tan W, Yin W. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct 10; 41(10):1201-1205. PubMed ID: 39344614 [Abstract] [Full Text] [Related]
18. Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype. Carmany EP, Bawle EV. Am J Med Genet A; 2011 Apr 10; 155A(4):819-24. PubMed ID: 21412978 [Abstract] [Full Text] [Related]
19. [Identification of a critical region on chromosome 4p16.3 for Wolf-Hirschhorn syndrome-associated fetal growth retardation]. Zheng W, Chen B, Yin Z, Huang X, Liang Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul 10; 37(7):731-735. PubMed ID: 32619252 [Abstract] [Full Text] [Related]