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Items: 1 to 20 of 223

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.

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
12.

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
14.

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.

15.

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
16.

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
17.

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
18.

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SL, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA.

Eur J Hum Genet. 2000 Jan;8(1):54-62.

19.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Gatta V, Palka C, Chiavaroli V, Franchi S, Cannataro G, Savastano M, Cotroneo AR, Chiarelli F, Mohn A, Stuppia L.

BMC Med Genet. 2014 Jul 23;15:87. doi: 10.1186/1471-2350-15-87.

20.

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
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