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Items: 1 to 20 of 180

1.

Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).

Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.

Am J Med Genet A. 2007 May 1;143A(9):933-8.

PMID:
17394206
2.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE.

Am J Hum Genet. 2005 Oct;77(4):533-44. Epub 2005 Aug 15. Erratum in: Am J Hum Genet. 2005 Dec;77(6):1131. Huber, Celine [corrected to Huber, Céline]; Del Blanco, Darya Gorbenko [corrected to Gorbenko del Blanco, Darya]; Rappold, Gudrun [added]; Argente, Jesus [corrected to Argente, Jesús]; Cormier-Daire, Valerie [corrected to Cormier-Daire, Valrie].

3.

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.

Hum Mutat. 2006 Oct;27(10):1062.

PMID:
16941489
4.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563.

PMID:
20683993
5.

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.

Am J Med Genet. 2002 Jun 15;110(2):153-7.

PMID:
12116253
6.

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE.

Eur J Med Genet. 2010 Jul-Aug;53(4):204-7. doi: 10.1016/j.ejmg.2010.04.003. Epub 2010 Apr 20.

PMID:
20412871
7.

Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.

Mutesa L, Vanbellinghen JF, Hellin AC, Segers K, Jamar M, Pierquin G, Bours V.

Genet Couns. 2009;20(1):9-17.

PMID:
19400538
8.

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

Thomas NS, Maloney V, Bass P, Mulik V, Wellesley D, Castle B.

Am J Med Genet A. 2004 Jul 15;128A(2):179-84.

PMID:
15214013
9.

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM.

Nat Genet. 1998 May;19(1):70-3.

PMID:
9590293
10.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Benito-Sanz S, Aza-Carmona M, Rodríguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, Heath KE.

Eur J Hum Genet. 2012 Jan;20(1):125-7. doi: 10.1038/ejhg.2011.210. Epub 2011 Nov 9.

11.

The SHOX region and its mutations.

Capone L, Iughetti L, Sabatini S, Bacciaglia A, Forabosco A.

J Endocrinol Invest. 2010 Jun;33(6 Suppl):11-4.

PMID:
21057179
13.

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.

Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.

14.

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE.

J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678.

PMID:
22791839
15.

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL.

Am J Med Genet. 2002 Jun 15;110(2):158-63.

PMID:
12116254
16.

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M.

Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5.

PMID:
24311385
17.

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.

Bunyan DJ, Baker KR, Harvey JF, Thomas NS.

Am J Med Genet A. 2013 Jun;161A(6):1329-38. doi: 10.1002/ajmg.a.35919. Epub 2013 May 1.

PMID:
23636926
18.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V.

Nat Genet. 1998 May;19(1):67-9.

PMID:
9590292
19.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.

Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

PMID:
17994562
20.

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.

Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A.

Acta Paediatr Suppl. 1999 Dec;88(433):55-9.

PMID:
10626546

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