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Items: 1 to 20 of 26


A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Marchini A, Ogata T, Rappold GA.

Endocr Rev. 2016 Aug;37(4):417-48. doi: 10.1210/er.2016-1036. Epub 2016 Jun 29.


Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies.

Rafati N, Andersson LS, Mikko S, Feng C, Raudsepp T, Pettersson J, Janecka J, Wattle O, Ameur A, Thyreen G, Eberth J, Huddleston J, Malig M, Bailey E, Eichler EE, Dalin G, Chowdary B, Andersson L, Lindgren G, Rubin CJ.

G3 (Bethesda). 2016 Jul 7;6(7):2213-23. doi: 10.1534/g3.116.029645.


SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

Fukami M, Seki A, Ogata T.

Mol Syndromol. 2016 Apr;7(1):3-11. doi: 10.1159/000444596. Epub 2016 Mar 15. Review.


Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.

Delil K, Karabulut HG, Hacıhamdioğlu B, Şıklar Z, Berberoğlu M, Öçal G, Tükün A, Ruhi HI.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):144-9. doi: 10.4274/jcrpe.2307. Epub 2015 Dec 18.


X-chromosome inactivation and escape.

Disteche CM, Berletch JB.

J Genet. 2015 Dec;94(4):591-9. Review.


Enabling research with human embryonic and fetal tissue resources.

Gerrelli D, Lisgo S, Copp AJ, Lindsay S.

Development. 2015 Sep 15;142(18):3073-6. doi: 10.1242/dev.122820.


De novo origin of VCY2 from autosome to Y-transposed amplicon.

Cao PR, Wang L, Jiang YC, Yi YS, Qu F, Liu TC, Lv Y.

PLoS One. 2015 Mar 23;10(3):e0119651. doi: 10.1371/journal.pone.0119651. eCollection 2015.


Recombination in the human Pseudoautosomal region PAR1.

Hinch AG, Altemose N, Noor N, Donnelly P, Myers SR.

PLoS Genet. 2014 Jul 17;10(7):e1004503. doi: 10.1371/journal.pgen.1004503. eCollection 2014 Jul.


All Madelung deformities are not endocrine.

Kumar A, Rai GK, Akhtar J, Phillip R, Gutch M, Arya TV.

Indian J Endocrinol Metab. 2013 Oct;17(Suppl 1):S231-3. doi: 10.4103/2230-8210.119581.


Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.

Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield SE.

Int J Pediatr Endocrinol. 2013;2013(1):11. doi: 10.1186/1687-9856-2013-11. Epub 2013 Jun 28.


Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.

Decarpentrie F, Vernet N, Mahadevaiah SK, Longepied G, Streichemberger E, Aknin-Seifer I, Ojarikre OA, Burgoyne PS, Metzler-Guillemain C, Mitchell MJ.

Hum Mol Genet. 2012 Jun 15;21(12):2631-45. doi: 10.1093/hmg/dds088. Epub 2012 Mar 9.


Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome.

Pessia E, Makino T, Bailly-Bechet M, McLysaght A, Marais GA.

Proc Natl Acad Sci U S A. 2012 Apr 3;109(14):5346-51. doi: 10.1073/pnas.1116763109. Epub 2012 Mar 5.


Somatotropin in the treatment of growth hormone deficiency and Turner syndrome in pediatric patients: a review.

Reh CS, Geffner ME.

Clin Pharmacol. 2010;2:111-22. doi: 10.2147/CPAA.S6525. Epub 2010 Jun 1.


Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Review.


Haploinsufficiency and the sex chromosomes from yeasts to humans.

de Clare M, Pir P, Oliver SG.

BMC Biol. 2011 Feb 28;9:15. doi: 10.1186/1741-7007-9-15.


Disorders of the growth plate.

Phornphutkul C, Gruppuso PA.

Curr Opin Endocrinol Diabetes Obes. 2009 Dec;16(6):430-4. doi: 10.1097/MED.0b013e328331dca2. Review.


Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G.

J Med Genet. 2009 Dec;46(12):834-9. doi: 10.1136/jmg.2009.067785. Epub 2009 Jul 2.


A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6.

Bengtsson H, Wirapati P, Speed TP.

Bioinformatics. 2009 Sep 1;25(17):2149-56. doi: 10.1093/bioinformatics/btp371. Epub 2009 Jun 17.


Recombinant human growth hormone in the treatment of Turner syndrome.

Spiliotis BE.

Ther Clin Risk Manag. 2008 Dec;4(6):1177-83.


Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo.

Sullivan PF, de Geus EJ, Willemsen G, James MR, Smit JH, Zandbelt T, Arolt V, Baune BT, Blackwood D, Cichon S, Coventry WL, Domschke K, Farmer A, Fava M, Gordon SD, He Q, Heath AC, Heutink P, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hu Y, Kohli M, Lin D, Lucae S, Macintyre DJ, Maier W, McGhee KA, McGuffin P, Montgomery GW, Muir WJ, Nolen WA, Nöthen MM, Perlis RH, Pirlo K, Posthuma D, Rietschel M, Rizzu P, Schosser A, Smit AB, Smoller JW, Tzeng JY, van Dyck R, Verhage M, Zitman FG, Martin NG, Wray NR, Boomsma DI, Penninx BW.

Mol Psychiatry. 2009 Apr;14(4):359-75. doi: 10.1038/mp.2008.125. Epub 2008 Dec 9.

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