265 related articles for article (PubMed ID: 15931595)
1. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.
Schneider KU; Sabherwal N; Jantz K; Röth R; Muncke N; Blum WF; Cutler GB; Rappold G
Am J Hum Genet; 2005 Jul; 77(1):89-96. PubMed ID: 15931595
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Cormier-Daire V; Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A
Acta Paediatr Suppl; 1999 Dec; 88(433):55-9. PubMed ID: 10626546
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
Reish O; Huber C; Altarescu G; Chapman-Shimshoni D; Levy-Lahad E; Renbaum P; Mashevich M; Munnich A; Cormier-Daire V
Am J Med Genet A; 2010 Sep; 152A(9):2230-5. PubMed ID: 20683993
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection of SHOX haploinsufficiency in Leri-Weill Syndrome.
Tan YM; Loke KY
Diagn Mol Pathol; 2005 Dec; 14(4):247-9. PubMed ID: 16319696
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.
Gatta V; Antonucci I; Morizio E; Palka C; Fischetto R; Mokini V; Tumini S; Calabrese G; Stuppia L
J Hum Genet; 2007; 52(1):21-27. PubMed ID: 17091221
[TBL] [Abstract][Full Text] [Related]
13. Short stature and dysmorphology associated with defects in the SHOX gene.
Leka SK; Kitsiou-Tzeli S; Kalpini-Mavrou A; Kanavakis E
Hormones (Athens); 2006; 5(2):107-18. PubMed ID: 16807223
[TBL] [Abstract][Full Text] [Related]
14. SHOX: growth, Léri-Weill and Turner syndromes.
Blaschke RJ; Rappold GA
Trends Endocrinol Metab; 2000 Aug; 11(6):227-30. PubMed ID: 10878753
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Seiersen KV; Henriksen TB; Andelius TCK; Andreasen L; Diemer T; Gudmundsdottir G; Vogel I; Gjørup V; Gregersen PA
Eur J Med Genet; 2024 Feb; 67():104894. PubMed ID: 38070826
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
Binder G; Schwarze CP; Ranke MB
J Clin Endocrinol Metab; 2000 Jan; 85(1):245-9. PubMed ID: 10634394
[TBL] [Abstract][Full Text] [Related]
19. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V; Cusin V; Viot G; Girlich D; Toutain A; Moncla A; Vekemans M; Le Merrer M; Munnich A; Cormier-Daire V
Nat Genet; 1998 May; 19(1):67-9. PubMed ID: 9590292
[TBL] [Abstract][Full Text] [Related]
20. Complete SHOX deficiency causes Langer mesomelic dysplasia.
Zinn AR; Wei F; Zhang L; Elder FF; Scott CI; Marttila P; Ross JL
Am J Med Genet; 2002 Jun; 110(2):158-63. PubMed ID: 12116254
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
