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2. A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene. Choi WB; Seo SH; Yoo WH; Kim SY; Kwak MJ Ann Pediatr Endocrinol Metab; 2015 Sep; 20(3):162-5. PubMed ID: 26512353 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. Munns CF; Glass IA; LaBrom R; Hayes M; Flanagan S; Berry M; Hyland VJ; Batch JA; Philips GE; Vickers D Hand Surg; 2001 Jul; 6(1):13-23. PubMed ID: 11677662 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature. Fukami M; Seki A; Ogata T Mol Syndromol; 2016 Apr; 7(1):3-11. PubMed ID: 27194967 [TBL] [Abstract][Full Text] [Related]
8. [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study]. Dávid A; Butz H; Halász Z; Török D; Nyirő G; Muzsnai Á; Csákváry V; Luczay A; Sallai Á; Hosszú É; Felszeghy E; Tar A; Szántó Z; Fekete GL; Kun I; Patócs A; Bertalan R Orv Hetil; 2017 Aug; 158(34):1351-1356. PubMed ID: 28823207 [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. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. Shanske AL; Puri M; Marshall B; Saenger P Horm Res; 2007; 67(2):61-6. PubMed ID: 17028440 [TBL] [Abstract][Full Text] [Related]
11. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. Bunyan DJ; Baffico M; Capone L; Vannelli S; Iughetti L; Schmitt S; Taylor EJ; Herridge AA; Shears D; Forabosco A; Coviello DA Am J Med Genet A; 2016 Apr; 170A(4):949-57. PubMed ID: 26698168 [TBL] [Abstract][Full Text] [Related]
12. Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation. Frederiksen AL; Hansen S; Brixen K; Frost M Bone; 2014 Dec; 69():23-9. PubMed ID: 25220427 [TBL] [Abstract][Full Text] [Related]
13. Report of a Novel Lucchetti L; Prontera P; Mencarelli A; Sallicandro E; Mencarelli A; Cofini M; Leonardi A; Stangoni G; Penta L; Esposito S Front Endocrinol (Lausanne); 2018; 9():163. PubMed ID: 29692759 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX. Miranda V; Sabeh P; Seiltgens C; Molidperee S; Janelle C; Lemyre E; Campeau PM Eur J Hum Genet; 2024 Jun; ():. PubMed ID: 38914686 [TBL] [Abstract][Full Text] [Related]
16. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Ogushi K; Muroya K; Shima H; Jinno T; Miyado M; Fukami M Am J Med Genet A; 2019 Sep; 179(9):1778-1782. PubMed ID: 31228230 [TBL] [Abstract][Full Text] [Related]
18. The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011). De Sanctis V; Tosetto I; Iughetti L; Antoniazzi F; Clementi M; Toffolutti T; Facchin P; Monti E; Pisanello L; Tonini G; Greggio NA Pediatr Endocrinol Rev; 2012 Aug; 9(4):727-33. PubMed ID: 23304810 [TBL] [Abstract][Full Text] [Related]
19. 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]