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2. 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]
3. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. Vasques GA; Amano N; Docko AJ; Funari MF; Quedas EP; Nishi MY; Arnhold IJ; Hasegawa T; Jorge AA J Clin Endocrinol Metab; 2013 Oct; 98(10):E1636-44. PubMed ID: 24001744 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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. PubMed ID: 17201812 [TBL] [Abstract][Full Text] [Related]
6. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis. Hirschfeldova K; Solc R; Baxova A; Zapletalova J; Kebrdlova V; Gaillyova R; Prasilova S; Soukalova J; Mihalova R; Lnenicka P; Florianova M; Stekrova J Gene; 2012 Jan; 491(2):123-7. PubMed ID: 22020182 [TBL] [Abstract][Full Text] [Related]
7. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Wang SR; Jacobsen CM; Carmichael H; Edmund AB; Robinson JW; Olney RC; Miller TC; Moon JE; Mericq V; Potter LR; Warman ML; Hirschhorn JN; Dauber A Hum Mutat; 2015 Apr; 36(4):474-81. PubMed ID: 25703509 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Benito-Sanz S; Aza-Carmona M; Rodríguez-Estevez A; Rica-Etxebarria I; Gracia R; Campos-Barros A; Heath KE Eur J Hum Genet; 2012 Jan; 20(1):125-7. PubMed ID: 22071895 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Genotypes and phenotypes of children with SHOX deficiency in France. Rosilio M; Huber-Lequesne C; Sapin H; Carel JC; Blum WF; Cormier-Daire V J Clin Endocrinol Metab; 2012 Jul; 97(7):E1257-65. PubMed ID: 22518848 [TBL] [Abstract][Full Text] [Related]
15. Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis. Rodríguez FA; Unanue N; Hernandez MI; Basaure J; Heath KE; Cassorla F J Pediatr Endocrinol Metab; 2013; 26(7-8):729-34. PubMed ID: 23729538 [TBL] [Abstract][Full Text] [Related]
16. Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. Bunyan DJ; Baker KR; Harvey JF; Thomas NS Am J Med Genet A; 2013 Jun; 161A(6):1329-38. PubMed ID: 23636926 [TBL] [Abstract][Full Text] [Related]
17. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. Jorge AA; Funari MF; Nishi MY; Mendonca BB Pediatr Endocrinol Rev; 2010 Dec; 8(2):79-85. PubMed ID: 21150837 [TBL] [Abstract][Full Text] [Related]
18. Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample. Hirschfeldova K; Solc R Gene; 2017 Sep; 627():164-168. PubMed ID: 28629824 [TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 15931687 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]