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Journal Abstract Search

154 related items for PubMed ID: 31678974

  • 1. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
    Arya VB, Chawla G, Nambisan AKR, Muhi-Iddin N, Vamvakiti E, Ajzensztejn M, Hulse T, Ferreira Pinto C, Lahiri N, Bint S, Buchanan CR, Kapoor RR.
    Horm Res Paediatr; 2019; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 2. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
    Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
    Am J Hum Genet; 2005 May; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 3. Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
    Rosolowsky ET, Stein R, Marks SD, Leonard N.
    J Pediatr Endocrinol Metab; 2020 Mar 26; 33(3):443-447. PubMed ID: 26352083
    [Abstract] [Full Text] [Related]

  • 4. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
    Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G.
    Am J Med Genet A; 2014 Aug 26; 164A(8):1947-52. PubMed ID: 24737742
    [Abstract] [Full Text] [Related]

  • 5. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.
    J Med Genet; 2004 Sep 26; 41(9):669-78. PubMed ID: 15342697
    [Abstract] [Full Text] [Related]

  • 6. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.
    Pituitary; 2021 Apr 26; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 7. Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
    Alatzoglou KS, Kelberman D, Cowell CT, Palmer R, Arnhold IJ, Melo ME, Schnabel D, Grueters A, Dattani MT.
    J Clin Endocrinol Metab; 2011 Apr 26; 96(4):E685-90. PubMed ID: 21289259
    [Abstract] [Full Text] [Related]

  • 8. Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects.
    Uguen A, Talagas M, Quémener-Redon S, Marcorelles P, De Braekeleer M.
    Am J Med Genet A; 2015 Jul 26; 167(7):1676-8. PubMed ID: 25900196
    [No Abstract] [Full Text] [Related]

  • 9. SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
    Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT.
    J Clin Endocrinol Metab; 2014 Dec 26; 99(12):E2702-8. PubMed ID: 25140394
    [Abstract] [Full Text] [Related]

  • 10. Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.
    Du C, Wang F, Li Z, Zhang M, Yu X, Liang Y, Luo X.
    BMC Med Genomics; 2022 Feb 03; 15(1):19. PubMed ID: 35114986
    [Abstract] [Full Text] [Related]

  • 11. A complex phenotype in a family with a pathogenic SOX3 missense variant.
    Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H.
    Eur J Med Genet; 2018 Mar 03; 61(3):168-172. PubMed ID: 29175558
    [Abstract] [Full Text] [Related]

  • 12. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.
    J Med Genet; 2007 Apr 03; 44(4):e75. PubMed ID: 17400794
    [No Abstract] [Full Text] [Related]

  • 13. A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.
    Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, de Martino M.
    Hormones (Athens); 2014 Apr 03; 13(4):552-60. PubMed ID: 25402377
    [Abstract] [Full Text] [Related]

  • 14. Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.
    Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E.
    Am J Med Genet A; 2013 May 03; 161A(5):1137-42. PubMed ID: 23463539
    [Abstract] [Full Text] [Related]

  • 15. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
    Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V.
    Prenat Diagn; 2019 Oct 03; 39(11):1026-1034. PubMed ID: 31299102
    [Abstract] [Full Text] [Related]

  • 16. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
    Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.
    Pituitary; 2014 Dec 03; 17(6):569-74. PubMed ID: 24346842
    [Abstract] [Full Text] [Related]

  • 17. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.
    Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J.
    Mol Cell Endocrinol; 2018 Dec 15; 478():133-140. PubMed ID: 30125608
    [Abstract] [Full Text] [Related]

  • 18. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.
    Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D.
    Am J Med Genet A; 2012 Jul 15; 158A(7):1759-64. PubMed ID: 22678921
    [Abstract] [Full Text] [Related]

  • 19. The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.
    Oroz M, Vičić A, Požgaj Šepec M, Karnaš H, Stipančić G, Stipoljev F.
    J Pediatr Endocrinol Metab; 2023 Jan 27; 36(1):86-90. PubMed ID: 36189645
    [Abstract] [Full Text] [Related]

  • 20. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
    Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.
    Eur J Hum Genet; 2015 Aug 27; 23(8):1025-32. PubMed ID: 25351776
    [Abstract] [Full Text] [Related]

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