224 related articles for article (PubMed ID: 10599728)
1. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
Kosho T; Muroya K; Nagai T; Fujimoto M; Yokoya S; Sakamoto H; Hirano T; Terasaki H; Ohashi H; Nishimura G; Sato S; Matsuo N; Ogata T
J Clin Endocrinol Metab; 1999 Dec; 84(12):4613-21. PubMed ID: 10599728
[TBL] [Abstract][Full Text] [Related]
2. SHOX haploinsufficiency and its modifying factors.
Ogata T
J Pediatr Endocrinol Metab; 2002 Dec; 15 Suppl 5():1289-94. PubMed ID: 12510982
[TBL] [Abstract][Full Text] [Related]
3. Phenotypes Associated with SHOX Deficiency.
Ross JL; Scott C; Marttila P; Kowal K; Nass A; Papenhausen P; Abboudi J; Osterman L; Kushner H; Carter P; Ezaki M; Elder F; Wei F; Chen H; Zinn AR
J Clin Endocrinol Metab; 2001 Dec; 86(12):5674-80. PubMed ID: 11739418
[TBL] [Abstract][Full Text] [Related]
4. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
Ross JL; Kowal K; Quigley CA; Blum WF; Cutler GB; Crowe B; Hovanes K; Elder FF; Zinn AR
J Pediatr; 2005 Oct; 147(4):499-507. PubMed ID: 16227037
[TBL] [Abstract][Full Text] [Related]
5. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
Clement-Jones M; Schiller S; Rao E; Blaschke RJ; Zuniga A; Zeller R; Robson SC; Binder G; Glass I; Strachan T; Lindsay S; Rappold GA
Hum Mol Genet; 2000 Mar; 9(5):695-702. PubMed ID: 10749976
[TBL] [Abstract][Full Text] [Related]
6. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA; Fukami M; Niesler B; Schiller S; Zumkeller W; Bettendorf M; Heinrich U; Vlachopapadoupoulou E; Reinehr T; Onigata K; Ogata T
J Clin Endocrinol Metab; 2002 Mar; 87(3):1402-6. PubMed ID: 11889216
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15356038
[TBL] [Abstract][Full Text] [Related]
8. Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency.
Miyoshi Y; Miki K; Etani Y; Mushiake S; Shimizu N; Ozono K
Clin Pediatr Endocrinol; 2005; 14(1):11-6. PubMed ID: 24790304
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 22791839
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21147883
[TBL] [Abstract][Full Text] [Related]
11. Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
Binder G; Fritsch H; Schweizer R; Ranke MB
Horm Res; 2001; 55(2):71-6. PubMed ID: 11509862
[TBL] [Abstract][Full Text] [Related]
12. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
Ogata T; Muroya K; Sasaki G; Nishimura G; Kitoh H; Hattori T
J Clin Endocrinol Metab; 2002 Mar; 87(3):1390-4. PubMed ID: 11889214
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 10905666
[TBL] [Abstract][Full Text] [Related]
14. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.
Ogata T; Onigata K; Hotsubo T; Matsuo N; Rappold G
Endocr J; 2001 Jun; 48(3):317-22. PubMed ID: 11523902
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 20683993
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 16175500
[TBL] [Abstract][Full Text] [Related]
17. Epidemiology of SHOX deficiency.
Nicolosi A; Caruso-Nicoletti M
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):7-10. PubMed ID: 21057178
[TBL] [Abstract][Full Text] [Related]
18. [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; 145(30):1456-9. PubMed ID: 11503314
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16941489
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
