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Journal Abstract Search

161 related items for PubMed ID: 9043863

  • 1. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
    Villard L, Lacombe D, Fontés M.
    Eur J Hum Genet; 1996; 4(6):316-20. PubMed ID: 9043863
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  • 4. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
    Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K.
    Am J Hum Genet; 1996 Jun; 58(6):1185-91. PubMed ID: 8651295
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  • 5. Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.
    Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A.
    Prenat Diagn; 2001 Sep; 21(9):747-51. PubMed ID: 11559911
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  • 6. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Wada T, Kubota T, Fukushima Y, Saitoh S.
    Am J Med Genet; 2000 Sep 18; 94(3):242-8. PubMed ID: 10995512
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  • 7. Carpenter-Waziri syndrome results from a mutation in XNP.
    Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M, Curtis M.
    Am J Med Genet; 1999 Jul 30; 85(3):249-51. PubMed ID: 10398237
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  • 8. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
    Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M.
    Genomics; 1997 Jul 15; 43(2):149-55. PubMed ID: 9244431
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  • 10. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Arch Pediatr; 2005 Sep 15; 12(9):1372-5. PubMed ID: 16125058
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  • 12. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
    Villard L, Fontes M.
    Eur J Hum Genet; 2002 Apr 15; 10(4):223-5. PubMed ID: 12032728
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  • 15. XNP mutation in a large family with Juberg-Marsidi syndrome.
    Villard L, Gecz J, Mattéi JF, Fontés M, Saugier-Veber P, Munnich A, Lyonnet S.
    Nat Genet; 1996 Apr 15; 12(4):359-60. PubMed ID: 8630485
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  • 17. New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.
    Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A.
    Hum Mutat; 1998 Apr 15; 12(3):214. PubMed ID: 10660327
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  • 18. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
    Am J Med Genet A; 2017 May 15; 173(5):1390-1395. PubMed ID: 28371217
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