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Results: 1 to 20 of 214

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[From gene to disease; from SHOX to Lèri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature].

Kant SG, Drop SL.

Ned Tijdschr Geneeskd. 2001 Jul 28;145(30):1456-9. Review. Dutch.

PMID:
11503314
[PubMed - indexed for MEDLINE]
6.

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).

Cormier-Daire V, Huber C, Munnich A.

Am J Med Genet. 2001 Winter;106(4):272-4.

PMID:
11891678
[PubMed - indexed for MEDLINE]
7.

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.

Ogata T.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:53-7; discussion 57-8. Review.

PMID:
10549307
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP.

Hum Genet. 2001 Nov;109(5):551-8. Epub 2001 Oct 19.

PMID:
11735031
[PubMed - indexed for MEDLINE]
10.

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Libório DC, Kim CA, Arnhold IJ, Mendonca BB.

Clin Endocrinol (Oxf). 2007 Jan;66(1):130-5.

PMID:
17201812
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.

J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
10713888
[PubMed - indexed for MEDLINE]
Free Article
15.

Short stature and dysmorphology associated with defects in the SHOX gene.

Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.

Hormones (Athens). 2006 Apr-Jun;5(2):107-18. Review.

PMID:
16807223
[PubMed - indexed for MEDLINE]
Free Article
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G.

Clin Genet. 2000 Jun;57(6):449-53.

PMID:
10905666
[PubMed - indexed for MEDLINE]
19.

SHOX: growth, Léri-Weill and Turner syndromes.

Blaschke RJ, Rappold GA.

Trends Endocrinol Metab. 2000 Aug;11(6):227-30. Review.

PMID:
10878753
[PubMed - indexed for MEDLINE]
20.

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA.

Clin Genet. 2001 Feb;59(2):115-21.

PMID:
11260213
[PubMed - indexed for MEDLINE]

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