BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 23729538)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Usefulness of MLPA in the detection of SHOX deletions.
    Funari MF; Jorge AA; Souza SC; Billerbeck AE; Arnhold IJ; Mendonca BB; Nishi MY
    Eur J Med Genet; 2010; 53(5):234-8. PubMed ID: 20538086
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 53(4):204-7. PubMed ID: 20412871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. The SHOX region and its mutations.
    Capone L; Iughetti L; Sabatini S; Bacciaglia A; Forabosco A
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):11-4. PubMed ID: 21057179
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Different approaches in the molecular analysis of the SHOX gene dysfunctions.
    Stuppia L; Gatta V; Antonucci I; Giuliani R; Palka G
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):30-3. PubMed ID: 21057183
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.
    Poggi H; Vera A; Avalos C; Lagos M; Mellado C; Aracena M; Aravena T; Garcia H; Godoy C; Cattani A; Reyes L; Lacourt P; Rumie H; Mericq V; Arriaza M; Martinez-Aguayo A
    Horm Res Paediatr; 2015; 84(4):254-7. PubMed ID: 26337568
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. [Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].
    Llano-Rivas I; Fernández-Toral J; Navarro-Vera I
    An Pediatr (Barc); 2011 Jun; 74(6):405-8. PubMed ID: 21397576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [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]  

  • 20. Detection of
    Gürsoy S; Hazan F; Aykut A; Nalbantoğlu Ö; Korkmaz HA; Demir K; Özkan B; Çoğulu Ö
    J Clin Res Pediatr Endocrinol; 2020 Nov; 12(4):358-365. PubMed ID: 32295321
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.