BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 21912078)

  • 21. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
    Auger J; Baptiste A; Benabbad I; Thierry G; Costa JM; Amouyal M; Kottler ML; Leheup B; Touraine R; Schmitt S; Lebrun M; Cormier Daire V; Bonnefont JP; de Roux N; Elie C; Rosilio M
    Horm Res Paediatr; 2016; 86(5):309-318. PubMed ID: 27676402
    [TBL] [Abstract][Full Text] [Related]  

  • 22. SHOX gene variants: growth hormone/insulin-like growth factor-1 status and response to growth hormone treatment.
    Shapiro S; Klein GW; Klein ML; Wallach EJ; Fen Y; Godbold JH; Rapaport R
    Horm Res Paediatr; 2015; 83(1):26-35. PubMed ID: 25659810
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy.
    Iughetti L; Vannelli S; Street ME; Pirazzoli P; Bertelloni S; Radetti G; Capone L; Stasiowska B; Mazzanti L; Gastaldi R; Maggio MC; Predieri B
    Horm Res Paediatr; 2012; 78(5-6):279-87. PubMed ID: 23208451
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
    Shima H; Tanaka T; Kamimaki T; Dateki S; Muroya K; Horikawa R; Kanno J; Adachi M; Naiki Y; Tanaka H; Mabe H; Yagasaki H; Kure S; Matsubara Y; Tajima T; Kashimada K; Ishii T; Asakura Y; Fujiwara I; Soneda S; Nagasaki K; Hamajima T; Kanzaki S; Jinno T; Ogata T; Fukami M;
    J Hum Genet; 2016 Jul; 61(7):585-91. PubMed ID: 26984564
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prevalence of SHOX haploinsufficiency among short statured children.
    Marstrand-Joergensen MR; Jensen RB; Aksglaede L; Duno M; Juul A
    Pediatr Res; 2017 Feb; 81(2):335-341. PubMed ID: 27814343
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [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]  

  • 27. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
    Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
    Hum Genet; 2001 Nov; 109(5):551-8. PubMed ID: 11735031
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
    Schiller S; Spranger S; Schechinger B; Fukami M; Merker S; Drop SL; Tröger J; Knoblauch H; Kunze J; Seidel J; Rappold GA
    Eur J Hum Genet; 2000 Jan; 8(1):54-62. PubMed ID: 10713888
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
    Alvarez-Mora MI; Madrigal I; Rodriguez-Revenga L; Mur A; Calvo D; Pascual I Bardají J; Milà M
    J Clin Pathol; 2012 Sep; 65(9):844-6. PubMed ID: 22461651
    [TBL] [Abstract][Full Text] [Related]  

  • 31. SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.
    Kurnaz E; Savaş-Erdeve Ş; Çetinkaya S; Aycan Z
    J Pediatr Endocrinol Metab; 2018 Nov; 31(11):1273-1278. PubMed ID: 30332396
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome.
    Blum WF; Cao D; Hesse V; Fricke-Otto S; Ross JL; Jones C; Quigley CA; Binder G
    Horm Res; 2009; 71(3):167-72. PubMed ID: 19188742
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. SHOX in short stature syndromes.
    Blaschke RJ; Rappold GA
    Horm Res; 2001; 55 Suppl 1():21-3. PubMed ID: 11408757
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Radiological and clinical analysis of Madelung's deformity in children.
    Huguet S; Leheup B; Aslan M; Muller F; Dautel G; Journeau P;
    Orthop Traumatol Surg Res; 2014 Oct; 100(6 Suppl):S349-52. PubMed ID: 25217032
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
    Donze SH; Meijer CR; Kant SG; Zandwijken GR; van der Hout AH; van Spaendonk RM; van den Ouweland AM; Wit JM; Losekoot M; Oostdijk W
    Eur J Endocrinol; 2015 Nov; 173(5):611-21. PubMed ID: 26264720
    [TBL] [Abstract][Full Text] [Related]  

  • 38. New roles of SHOX as regulator of target genes.
    Rappold GA; Durand C; Decker E; Marchini A; Schneider KU
    Pediatr Endocrinol Rev; 2012 May; 9 Suppl 2():733-8. PubMed ID: 22946287
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 13.