Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 226

1.

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
3.

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].

PMID:
16175500
4.

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
5.

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
6.

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
7.

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
8.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
9.

X/Y translocation in a family with Leri-Weill dyschondrosteosis.

Calabrese G, Fischetto R, Stuppia L, Capodiferro F, Mingarelli R, Causio F, Rocchi M, Rappold GA, Palka G.

Hum Genet. 1999 Oct;105(4):367-8.

PMID:
10543407
10.

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
11.

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
12.

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
13.

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.

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.

PMID:
12428212
15.

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Schneider KU, Sabherwal N, Jantz K, Röth R, Muncke N, Blum WF, Cutler GB Jr, Rappold G.

Am J Hum Genet. 2005 Jul;77(1):89-96. Epub 2005 Jun 1.

PMID:
15931595
16.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

PMID:
14636323
17.

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Gatta V, Antonucci I, Morizio E, Palka C, Fischetto R, Mokini V, Tumini S, Calabrese G, Stuppia L.

J Hum Genet. 2007;52(1):21-7. Epub 2006 Nov 8.

PMID:
17091221
18.

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
19.

Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.

Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG.

Clin Endocrinol (Oxf). 2002 May;56(5):671-5.

PMID:
12035792
20.

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

Supplemental Content

Support Center