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Journal Abstract Search

280 related items for PubMed ID: 15342697

  • 1. 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; 41(9):669-78. PubMed ID: 15342697
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  • 3. 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
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  • 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; 164A(8):1947-52. PubMed ID: 24737742
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  • 5. 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; 24(2):229-241. PubMed ID: 33184694
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  • 6. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
    Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.
    Am J Med Genet A; 2005 Sep 15; 138(1):11-7. PubMed ID: 16097007
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  • 7. Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism.
    Solomon NM, Nouri S, Warne GL, Lagerström-Fermér M, Forrest SM, Thomas PQ.
    Genomics; 2002 Apr 15; 79(4):553-9. PubMed ID: 11944988
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  • 8. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
    Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV.
    J Clin Invest; 2005 Oct 15; 115(10):2822-31. PubMed ID: 16167084
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  • 9. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.
    Am J Hum Genet; 2002 Dec 15; 71(6):1450-5. PubMed ID: 12428212
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  • 10. 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 Dec 15; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 11. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
    Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ.
    Front Biosci; 2007 Jan 01; 12():2085-95. PubMed ID: 17127446
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  • 12. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
    Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I.
    Genomics; 2000 Oct 15; 69(2):174-81. PubMed ID: 11031100
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  • 13. 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 15; 48(12):840-50. PubMed ID: 21984752
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  • 14. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.
    Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA.
    Clin Genet; 2008 Apr 15; 73(4):353-9. PubMed ID: 18279435
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  • 15. 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]

  • 16. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
    Andrew Nesbit M, Bowl MR, Harding B, Schlessinger D, Whyte MP, Thakker RV.
    Genomics; 2004 Dec 03; 84(6):1060-70. PubMed ID: 15533723
    [Abstract] [Full Text] [Related]

  • 17. Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region.
    Lilljebjörn H, Heidenblad M, Nilsson B, Lassen C, Horvat A, Heldrup J, Behrendtz M, Johansson B, Andersson A, Fioretos T.
    Leukemia; 2007 Oct 03; 21(10):2137-44. PubMed ID: 17690704
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  • 18. 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 03; 59(6-7):347-53. PubMed ID: 27180140
    [Abstract] [Full Text] [Related]

  • 19. A novel X-linked disorder with developmental delay and autistic features.
    Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.
    Ann Neurol; 2012 Apr 03; 71(4):498-508. PubMed ID: 22213401
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  • 20. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
    Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.
    J Med Genet; 2004 Feb 03; 41(2):113-9. PubMed ID: 14757858
    [Abstract] [Full Text] [Related]

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