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X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Zhu H, Shang D, Sun M, Choi S, Liu Q, Hao J, Figuera LE, Zhang F, Choy KW, Ao Y, Liu Y, Zhang XL, Yue F, Wang MR, Jin L, Patel PI, Jing T, Zhang X.

Am J Hum Genet. 2011 Jun 10;88(6):819-26. doi: 10.1016/j.ajhg.2011.05.004.


Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.

DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19.


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.


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;115(10):2822-31. Epub 2005 Sep 15.


Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

Figuera LE, Pandolfo M, Dunne PW, Cantú JM, Patel PI.

Nat Genet. 1995 Jun;10(2):202-7.


Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X.

Am J Hum Genet. 2009 Jun;84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018. Epub 2009 May 21.


Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.

Tadin-Strapps M, Salas-Alanis JC, Moreno L, Warburton D, Martinez-Mir A, Christiano AM.

Clin Genet. 2003 May;63(5):418-22.


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. doi: 10.1002/ajmg.a.36580. Epub 2014 Apr 15.


Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.


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;71(6):1450-5. Epub 2002 Nov 8.


Two independent retrotransposon insertions at the same site within the coding region of BTK.

Conley ME, Partain JD, Norland SM, Shurtleff SA, Kazazian HH Jr.

Hum Mutat. 2005 Mar;25(3):324-5.


Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.

PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014.


Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U.

Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. doi: 10.1167/iovs.10-6815. Erratum in: Invest Ophthalmol Vis Sci. 2011 Oct;52(11):7909.


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. No abstract available.


A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X.

Mol Vis. 2008 Jan 11;14:56-60.


Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, Torchia BS, Rosenfeld JA, Shaffer LG.

Genome Res. 2011 Apr;21(4):535-44. doi: 10.1101/gr.114579.110. Epub 2011 Mar 7.


Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.

Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.


A novel locus for X-linked congenital cataract on Xq24.

Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, Mackey DA, Burdon KP.

Mol Vis. 2008 Apr 18;14:721-6.


A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y.

J Genet. 2009 Apr;88(1):87-91. No abstract available.

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