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Journal Abstract Search
176 related items for PubMed ID: 18412111
1. Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization. Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H. Am J Med Genet A; 2008 May 15; 146A(10):1325-9. PubMed ID: 18412111 [Abstract] [Full Text] [Related]
2. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. Clin Genet; 2000 Aug 15; 58(2):116-22. PubMed ID: 11005144 [Abstract] [Full Text] [Related]
9. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Am J Med Genet A; 2005 Jun 15; 135(3):308-13. PubMed ID: 15887264 [Abstract] [Full Text] [Related]
10. Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review. Di-Battista A, Meloni VA, da Silva MD, Moysés-Oliveira M, Melaragno MI. Am J Med Genet A; 2016 Dec 15; 170(12):3271-3275. PubMed ID: 27605428 [Abstract] [Full Text] [Related]
12. Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation. Zou YS, Milunsky JM. Am J Med Genet A; 2009 Nov 15; 149A(11):2573-7. PubMed ID: 19876908 [No Abstract] [Full Text] [Related]
13. Autism in two females with duplications involving Xp11.22-p11.23. Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR. Dev Med Child Neurol; 2011 May 15; 53(5):463-6. PubMed ID: 21418194 [Abstract] [Full Text] [Related]
18. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. Am J Med Genet A; 2004 Jul 30; 128A(3):325-30. PubMed ID: 15216557 [Abstract] [Full Text] [Related]