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Journal Abstract Search

519 related items for PubMed ID: 25927380

  • 1. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW.
    BMC Med Genet; 2015 Mar 14; 16():12. PubMed ID: 25927380
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Ballout RA, El-Hattab AW, Schaaf CP, Cheung SW.
    ; 1993 Mar 14. PubMed ID: 26962617
    [Abstract] [Full Text] [Related]

  • 3. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.
    J Med Genet; 2011 Dec 14; 48(12):840-50. PubMed ID: 21984752
    [Abstract] [Full Text] [Related]

  • 4. The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.
    Ballout RA, El-Hattab AW.
    Genes (Basel); 2021 Jun 04; 12(6):. PubMed ID: 34199727
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.
    Chien YC, Chen JS, Shiao YM, Hsiao CH.
    Taiwan J Obstet Gynecol; 2022 May 04; 61(3):501-503. PubMed ID: 35595445
    [Abstract] [Full Text] [Related]

  • 6. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
    Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW.
    Hum Mutat; 2020 Jul 04; 41(7):1238-1249. PubMed ID: 32112660
    [Abstract] [Full Text] [Related]

  • 7. 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 04; 59(6-7):347-53. PubMed ID: 27180140
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 96(3):246-253. PubMed ID: 31090057
    [Abstract] [Full Text] [Related]

  • 9. 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 04; 164A(7):1795-801. PubMed ID: 24700761
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 42(11):1429-1442. PubMed ID: 34273908
    [Abstract] [Full Text] [Related]

  • 11. 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 04; 69(7):337-343. PubMed ID: 38632380
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 8():38. PubMed ID: 26174853
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 107(6):1157-1169. PubMed ID: 33159883
    [Abstract] [Full Text] [Related]

  • 14. 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 03; 167A(3):553-62. PubMed ID: 25691408
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 14():49. PubMed ID: 23634718
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 64(12):104367. PubMed ID: 34678473
    [Abstract] [Full Text] [Related]

  • 17. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
    Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.
    Eur J Med Genet; 2007 Dec 01; 50(6):421-31. PubMed ID: 17845869
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