259 related articles for article (PubMed ID: 26040210)
21. Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Benito-Sanz S; Belinchon-Martínez A; Aza-Carmona M; de la Torre C; Huber C; González-Casado I; Ross JL; Thomas NS; Zinn AR; Cormier-Daire V; Heath KE
J Hum Genet; 2017 Feb; 62(2):229-234. PubMed ID: 27604558
[TBL] [Abstract][Full Text] [Related]
22. Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.
Hirschfeldova K; Florianova M; Kebrdlova V; Urbanova M; Stekrova J
J Hum Genet; 2017 Feb; 62(2):253-257. PubMed ID: 27708272
[TBL] [Abstract][Full Text] [Related]
23. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.
Fukami M; Dateki S; Kato F; Hasegawa Y; Mochizuki H; Horikawa R; Ogata T
J Hum Genet; 2008; 53(5):454-459. PubMed ID: 18322641
[TBL] [Abstract][Full Text] [Related]
24. High incidence of SHOX anomalies in individuals with short stature.
Huber C; Rosilio M; Munnich A; Cormier-Daire V;
J Med Genet; 2006 Sep; 43(9):735-9. PubMed ID: 16597678
[TBL] [Abstract][Full Text] [Related]
25. RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.
Gherlan I; Braha E; Manole DC; Radomir L; Nedelcu I; Popa O; Schipor S
Acta Endocrinol (Buchar); 2023; 19(1):115-124. PubMed ID: 37601716
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.
Tsuchiya T; Shibata M; Numabe H; Jinno T; Nakabayashi K; Nishimura G; Nagai T; Ogata T; Fukami M
Am J Med Genet A; 2014 Feb; 164A(2):505-10. PubMed ID: 24311385
[TBL] [Abstract][Full Text] [Related]
28. Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Hisado-Oliva A; Garre-Vázquez AI; Santaolalla-Caballero F; Belinchón A; Barreda-Bonis AC; Vasques GA; Ramirez J; Luzuriaga C; Carlone G; González-Casado I; Benito-Sanz S; Jorge AA; Campos-Barros A; Heath KE
J Clin Endocrinol Metab; 2015 Aug; 100(8):E1133-42. PubMed ID: 26075495
[TBL] [Abstract][Full Text] [Related]
29. Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Alexandrou A; Papaevripidou I; Tsangaras K; Alexandrou I; Tryfonidis M; Christophidou-Anastasiadou V; Zamba-Papanicolaou E; Koumbaris G; Neocleous V; Phylactou LA; Skordis N; Tanteles GA; Sismani C
J Genet; 2016 Dec; 95(4):839-845. PubMed ID: 27994182
[TBL] [Abstract][Full Text] [Related]
30. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
D'haene B; Hellemans J; Craen M; De Schepper J; Devriendt K; Fryns JP; Keymolen K; Debals E; de Klein A; de Jong EM; Segers K; De Paepe A; Mortier G; Vandesompele J; De Baere E
J Clin Endocrinol Metab; 2010 Jun; 95(6):3010-8. PubMed ID: 20375215
[TBL] [Abstract][Full Text] [Related]
31. Rare and
Sadler B; Haller G; Antunes L; Nikolov M; Amarillo I; Coe B; Dobbs MB; Gurnett CA
J Med Genet; 2020 Dec; 57(12):851-857. PubMed ID: 32518174
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.
Verdin H; Fernández-Miñán A; Benito-Sanz S; Janssens S; Callewaert B; De Waele K; De Schepper J; François I; Menten B; Heath KE; Gómez-Skarmeta JL; De Baere E
Sci Rep; 2015 Dec; 5():17667. PubMed ID: 26631348
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
Gatta V; Palka C; Chiavaroli V; Franchi S; Cannataro G; Savastano M; Cotroneo AR; Chiarelli F; Mohn A; Stuppia L
BMC Med Genet; 2014 Jul; 15():87. PubMed ID: 25056248
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. Diagnostics of SHOX gene rearrangement in 46,XX women with idiopathic short stature.
Mitka M; Bednarek M; Kałużewski B
Endokrynol Pol; 2016; 67(4):397-402. PubMed ID: 27387244
[TBL] [Abstract][Full Text] [Related]
39. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.
Chen J; Wildhardt G; Zhong Z; Röth R; Weiss B; Steinberger D; Decker J; Blum WF; Rappold G
J Med Genet; 2009 Dec; 46(12):834-9. PubMed ID: 19578035
[TBL] [Abstract][Full Text] [Related]
40. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
Fukami M; Okuyama T; Yamamori S; Nishimura G; Ogata T
Am J Med Genet A; 2005 Aug; 137(1):72-6. PubMed ID: 16007631
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
