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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

146 related items for PubMed ID: 23307567

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  • 3. X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.
    Carpenter NJ, Qu Y, Curtis M, Patil SR.
    Am J Med Genet; 1999 Jul 30; 85(3):230-5. PubMed ID: 10398234
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  • 4. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
    Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.
    Am J Med Genet A; 2013 Sep 30; 161A(9):2294-9. PubMed ID: 23897859
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  • 10. Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
    Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K.
    Am J Med Genet A; 2016 Jan 30; 170A(1):87-93. PubMed ID: 26358363
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  • 11. 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 30; 167A(3):553-62. PubMed ID: 25691408
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  • 12. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
    Amor DJ, Dahl HH, Bahlo M, Bankier A.
    Am J Med Genet A; 2007 Oct 01; 143A(19):2236-41. PubMed ID: 17726694
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  • 14. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
    Martínez F, Tomás M, Millán JM, Fernández A, Palau F, Prieto F.
    J Med Genet; 1998 Apr 01; 35(4):284-7. PubMed ID: 9598720
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  • 15. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
    Au PYB, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott KM, Baynam G, Dyment DA.
    Eur J Med Genet; 2017 Jul 01; 60(7):359-364. PubMed ID: 28377321
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  • 18. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
    Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA.
    Neurology; 2003 May 27; 60(10):1664-7. PubMed ID: 12771259
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  • 19. Intellectual disability, unusual facial morphology and hand anomalies in sibs.
    Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC.
    Am J Med Genet A; 2013 Oct 27; 161A(10):2401-6. PubMed ID: 23949889
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