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255 related items for PubMed ID: 23824674

  • 1. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
    Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
    Hum Mutat; 2013 Oct; 34(10):1381-6. PubMed ID: 23824674
    [Abstract] [Full Text] [Related]

  • 2. PAPSS2 mutations cause autosomal recessive brachyolmia.
    Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.
    J Med Genet; 2012 Aug; 49(8):533-8. PubMed ID: 22791835
    [Abstract] [Full Text] [Related]

  • 3. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
    Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge, UK., Smithson S.
    Am J Med Genet A; 2019 Sep; 179(9):1884-1894. PubMed ID: 31313512
    [Abstract] [Full Text] [Related]

  • 4. Human 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency.
    Venkatachalam KV.
    IUBMB Life; 2003 Jan; 55(1):1-11. PubMed ID: 12716056
    [Abstract] [Full Text] [Related]

  • 5. A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.
    Mustafa S, Hussain MF, Latif M, Ijaz M, Asif M, Hassan M, Faisal M, Iqbal F.
    Genes (Basel); 2022 Nov 11; 13(11):. PubMed ID: 36421772
    [Abstract] [Full Text] [Related]

  • 6. Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.
    Eltan M, Yavas Abali Z, Arslan Ates E, Kirkgoz T, Kaygusuz SB, Türkyılmaz A, Bereket A, Turan S, Guran T.
    Horm Res Paediatr; 2019 Nov 11; 92(4):262-268. PubMed ID: 31461705
    [Abstract] [Full Text] [Related]

  • 7. Inactivating PAPSS2 mutations in a patient with premature pubarche.
    Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W.
    N Engl J Med; 2009 May 28; 360(22):2310-8. PubMed ID: 19474428
    [Abstract] [Full Text] [Related]

  • 8. PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
    Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W.
    J Clin Endocrinol Metab; 2015 Apr 28; 100(4):E672-80. PubMed ID: 25594860
    [Abstract] [Full Text] [Related]

  • 9. Degenerative knee joint disease in mice lacking 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (Papss2) activity: a putative model of human PAPSS2 deficiency-associated arthrosis.
    Ford-Hutchinson AF, Ali Z, Seerattan RA, Cooper DM, Hallgrímsson B, Salo PT, Jirik FR.
    Osteoarthritis Cartilage; 2005 May 28; 13(5):418-25. PubMed ID: 15882565
    [Abstract] [Full Text] [Related]

  • 10. Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.
    Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M.
    Am J Med Genet A; 2013 Jun 28; 161A(6):1300-8. PubMed ID: 23633440
    [Abstract] [Full Text] [Related]

  • 11. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Tüysüz B, Ungür S.
    Am J Med Genet A; 2003 Jun 15; 119A(3):375-80. PubMed ID: 12784309
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive brachyolmia: early radiological findings.
    Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G.
    Skeletal Radiol; 2016 Nov 15; 45(11):1557-60. PubMed ID: 27544198
    [Abstract] [Full Text] [Related]

  • 13. Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo.
    Stelzer C, Brimmer A, Hermanns P, Zabel B, Dietz UH.
    Dev Dyn; 2007 May 15; 236(5):1313-8. PubMed ID: 17436279
    [Abstract] [Full Text] [Related]

  • 14. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization.
    Xu ZH, Otterness DM, Freimuth RR, Carlini EJ, Wood TC, Mitchell S, Moon E, Kim UJ, Xu JP, Siciliano MJ, Weinshilboum RM.
    Biochem Biophys Res Commun; 2000 Feb 16; 268(2):437-44. PubMed ID: 10679223
    [Abstract] [Full Text] [Related]

  • 15. Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
    Biancotto G, Rosti G, Madia F, Capra V, Scala M, Aleo E, Paladini D.
    Prenat Diagn; 2024 Jul 16; 44(8):1003-1007. PubMed ID: 38768012
    [Abstract] [Full Text] [Related]

  • 16. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes.
    Xu ZH, Freimuth RR, Eckloff B, Wieben E, Weinshilboum RM.
    Pharmacogenetics; 2002 Jan 16; 12(1):11-21. PubMed ID: 11773860
    [Abstract] [Full Text] [Related]

  • 17. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
    [Abstract] [Full Text] [Related]

  • 18. Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature.
    Perez-Garcia EM, Whalen P, Gurtunca N.
    AACE Clin Case Rep; 2022 Jul 15; 8(2):89-92. PubMed ID: 35415222
    [Abstract] [Full Text] [Related]

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  • 20. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
    Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2005 May 15; 13(5):541-6. PubMed ID: 15726110
    [Abstract] [Full Text] [Related]

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