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Results: 1 to 20 of 55

1.

MADELUNG'S DEFORMITY.

Anton JI, Reitz GB, Spiegel MB.

Ann Surg. 1938 Sep;108(3):411-39. No abstract available.

PMID:
17857243
[PubMed]
Free PMC Article
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].

PMID:
16175500
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU, Marchini A, Sabherwal N, Röth R, Niesler B, Marttila T, Blaschke RJ, Lawson M, Dumic M, Rappold G.

Hum Mutat. 2005 Jul;26(1):44-52.

PMID:
15931687
[PubMed - indexed for MEDLINE]
4.

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
5.

Turner's syndrome.

Sybert VP, McCauley E.

N Engl J Med. 2004 Sep 16;351(12):1227-38. Review. No abstract available.

PMID:
15371580
[PubMed - indexed for MEDLINE]
Free Article
6.

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.

Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW, Häusler G, Fricke-Otto S, Frisch H, Heinrich JJ, Ranke MB.

J Clin Endocrinol Metab. 2004 Sep;89(9):4403-8.

PMID:
15356038
[PubMed - indexed for MEDLINE]
7.

Expression of SHOX in human fetal and childhood growth plate.

Munns CJ, Haase HR, Crowther LM, Hayes MT, Blaschke R, Rappold G, Glass IA, Batch JA.

J Clin Endocrinol Metab. 2004 Aug;89(8):4130-5.

PMID:
15292358
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
9.

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

Sabherwal N, Schneider KU, Blaschke RJ, Marchini A, Rappold G.

J Cell Sci. 2004 Jun 15;117(Pt 14):3041-8. Epub 2004 Jun 1.

PMID:
15173321
[PubMed - indexed for MEDLINE]
Free Article
10.

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

Sabherwal N, Blaschke RJ, Marchini A, Heine-Suner D, Rosell J, Ferragut J, Blum WF, Rappold G.

J Med Genet. 2004 Jun;41(6):e83. No abstract available.

PMID:
15173249
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes.

Marchini A, Marttila T, Winter A, Caldeira S, Malanchi I, Blaschke RJ, Häcker B, Rao E, Karperien M, Wit JM, Richter W, Tommasino M, Rappold GA.

J Biol Chem. 2004 Aug 27;279(35):37103-14. Epub 2004 May 15.

PMID:
15145945
[PubMed - indexed for MEDLINE]
Free Article
12.

Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.

Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T.

Endocr J. 2004 Apr;51(2):197-200.

PMID:
15118270
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

Binder G, Ranke MB, Martin DD.

J Clin Endocrinol Metab. 2003 Oct;88(10):4891-6.

PMID:
14557470
[PubMed - indexed for MEDLINE]
15.

Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.

Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA.

J Pediatr Endocrinol Metab. 2003 Sep;16(7):997-1004.

PMID:
14513876
[PubMed - indexed for MEDLINE]
16.

Familial growth and skeletal features associated with SHOX haploinsufficiency.

Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA, Hyland VJ, Batch JA.

J Pediatr Endocrinol Metab. 2003 Sep;16(7):987-96.

PMID:
14513875
[PubMed - indexed for MEDLINE]
17.

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

Blaschke RJ, Töpfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA.

J Biol Chem. 2003 Nov 28;278(48):47820-6. Epub 2003 Sep 5.

PMID:
12960152
[PubMed - indexed for MEDLINE]
Free Article
18.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

Boycott KM, Parslow MI, Ross JL, Miller IP, Bech-Hansen NT, MacLeod PM.

Am J Med Genet A. 2003 Oct 1;122A(2):139-47.

PMID:
12955766
[PubMed - indexed for MEDLINE]
19.

Deletion of the SHOX gene in patients with short stature of unknown cause.

Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G.

Am J Med Genet A. 2003 Jun 15;119A(3):293-6.

PMID:
12784295
[PubMed - indexed for MEDLINE]
20.

SHOX mutations detected by FISH and direct sequencing in patients with short stature.

Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G.

J Med Genet. 2003 Feb;40(2):E11. No abstract available.

PMID:
12566529
[PubMed - indexed for MEDLINE]
Free PMC Article

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