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Journal Abstract Search

127 related items for PubMed ID: 29175558

  • 21. A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
    Shimada A, Takagi M, Nagashima Y, Miyai K, Hasegawa Y.
    Horm Res Paediatr; 2016; 86(1):62-9. PubMed ID: 27299576
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  • 22.
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  • 23. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
    Cilliers DD, Parveen R, Clayton P, Cairns SA, Clarke S, Shalet SM, Black GC, Newman WG, Clayton-Smith J.
    Eur J Med Genet; 2007; 50(3):216-23. PubMed ID: 17369115
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  • 25. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
    Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.
    J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
    [Abstract] [Full Text] [Related]

  • 26. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
    Akçakaya NH, Salman B, Görmez Z, Tarkan Argüden Y, Çırakoğlu A, Çakmur R, Dönmez Çolakoğlu B, Hacıhanefioğlu S, Özbek U, Yapıcı Z, Uğur İşeri SA.
    Neuromolecular Med; 2019 Mar; 21(1):54-59. PubMed ID: 30612247
    [Abstract] [Full Text] [Related]

  • 27. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
    Somashekar PH, Narayanan DL, Jagadeesh S, Suresh B, Vaishnavi RD, Bielas S, Girisha KM, Shukla A.
    Am J Med Genet A; 2020 Jan; 182(1):183-188. PubMed ID: 31670473
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  • 28. Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
    Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP.
    Ophthalmic Genet; 2021 Jun; 42(3):320-325. PubMed ID: 33719903
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  • 29. 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; 161A(5):1137-42. PubMed ID: 23463539
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  • 30. 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; 167(7):1676-8. PubMed ID: 25900196
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  • 31. Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
    Gregory LC, Humayun KN, Turton JP, McCabe MJ, Rhodes SJ, Dattani MT.
    J Clin Endocrinol Metab; 2015 Jun; 100(6):2158-64. PubMed ID: 25871839
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  • 32. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
    Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T.
    Eur J Hum Genet; 2015 Dec; 23(12):1652-6. PubMed ID: 25735484
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  • 33. Isolated GH deficiency with dominant inheritance: new mutations, new insights.
    Binder G, Keller E, Mix M, Massa GG, Stokvis-Brantsma WH, Wit JM, Ranke MB.
    J Clin Endocrinol Metab; 2001 Aug; 86(8):3877-81. PubMed ID: 11502827
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  • 34. Hypopituitarism in Sox3 null mutants correlates with altered NG2-glia in the median eminence and is influenced by aspirin and gut microbiota.
    Galichet C, Rizzoti K, Lovell-Badge R.
    PLoS Genet; 2024 Sep; 20(9):e1011395. PubMed ID: 39325695
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  • 35. X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
    Burkitt Wright EM, Perveen R, Clayton PE, Hall CM, Costa T, Procter AM, Giblin CA, Donnai D, Black GC.
    Clin Dysmorphol; 2009 Oct; 18(4):218-21. PubMed ID: 19654509
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  • 36. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
    Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.
    Clin Genet; 2010 Jun; 77(6):541-51. PubMed ID: 20412111
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  • 37. 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; 44(4):e75. PubMed ID: 17400794
    [No Abstract] [Full Text] [Related]

  • 38. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
    Kotzaeridou U, Young-Baird SK, Suckow V, Thornburg AG, Wagner M, Harting I, Christ S, Strom T, Dever TE, Kalscheuer VM.
    Clin Genet; 2020 Nov; 98(5):507-514. PubMed ID: 32799315
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. [Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene].
    María Dolores-Sánchez C, Doval-Calvo D, Ballesta-Martínez MJ, Sánchez-Soler MJ.
    Rev Neurol; 2024 Aug 01; 79(3):95-97. PubMed ID: 39007861
    [Abstract] [Full Text] [Related]

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