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6. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China. Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140 [TBL] [Abstract][Full Text] [Related]
7. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Sinibaldi L; Parisi V; Lanciotti S; Fontana P; Kuechler A; Baujat G; Torres B; Koetting J; Splendiani A; Postorivo D; Beygo J; Garaci FG; Malan V; Lüdecke HJ; Guida V; Krumbiegel M; Lonardo F; Novelli A; Albrecht B; Perria C; Scarano G; Spielmann M; Nardone AM; Battaglia A; Brancati F; Bernardini L Clin Genet; 2019 Sep; 96(3):246-253. PubMed ID: 31090057 [TBL] [Abstract][Full Text] [Related]
8. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability. Andersen EF; Baldwin EE; Ellingwood S; Smith R; Lamb AN Am J Med Genet A; 2014 Jul; 164A(7):1795-801. PubMed ID: 24700761 [TBL] [Abstract][Full Text] [Related]
9. Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing. Sun Y; Yang Y; Luo Y; Chen M; Wang L; Huang Y; Yang Y; Dong M Hum Mutat; 2021 Nov; 42(11):1429-1442. PubMed ID: 34273908 [TBL] [Abstract][Full Text] [Related]
10. Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases. Levy M; Elron E; Shohat M; Lifshitz S; Kahana S; Shani H; Grossman A; Amar S; Narkis G; Sagi-Dain L; Basel-Salmon L; Maya I J Hum Genet; 2024 Jul; 69(7):337-343. PubMed ID: 38632380 [TBL] [Abstract][Full Text] [Related]
11. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. Qi Z; Jeng LJ; Slavotinek A; Yu J BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853 [TBL] [Abstract][Full Text] [Related]
12. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J Am J Hum Genet; 2020 Dec; 107(6):1157-1169. PubMed ID: 33159883 [TBL] [Abstract][Full Text] [Related]
13. Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? Evers C; Mitter D; Strobl-Wildemann G; Haug U; Hackmann K; Maas B; Janssen JW; Jauch A; Hinderhofer K; Moog U Am J Med Genet A; 2015 Mar; 167A(3):553-62. PubMed ID: 25691408 [TBL] [Abstract][Full Text] [Related]
14. Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation. Marshall LS; Simon J; Wood T; Peng M; Owen R; Feldman GS; Zaragoza MV BMC Med Genet; 2013 May; 14():49. PubMed ID: 23634718 [TBL] [Abstract][Full Text] [Related]
15. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Abdala BB; Gonçalves AP; Dos Santos JM; Boy R; de Carvalho CMB; Grochowski CM; Krepischi ACV; Rosenberg C; Gusmão L; Pehlivan D; Pimentel MMG; Santos-Rebouças CB Eur J Med Genet; 2021 Dec; 64(12):104367. PubMed ID: 34678473 [TBL] [Abstract][Full Text] [Related]
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17. Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. Jorge P; Garcia E; Gonçalves A; Marques I; Maia N; Rodrigues B; Santos H; Fonseca J; Soares G; Correia C; Reis-Lima M; Cirigliano V; Santos R BMC Med Genet; 2018 May; 19(1):74. PubMed ID: 29747568 [TBL] [Abstract][Full Text] [Related]
18. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Probst FJ; Roeder ER; Enciso VB; Ou Z; Cooper ML; Eng P; Li J; Gu Y; Stratton RF; Chinault AC; Shaw CA; Sutton VR; Cheung SW; Nelson DL Am J Med Genet A; 2007 Jun; 143A(12):1358-65. PubMed ID: 17506108 [TBL] [Abstract][Full Text] [Related]