174 related articles for article (PubMed ID: 37601716)
1. 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]
2. 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]
3. 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]
4. Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies.
Monzani A; Babu D; Mellone S; Genoni G; Fanelli A; Prodam F; Bellone S; Giordano M
BMC Med Genomics; 2019 Jan; 12(1):5. PubMed ID: 30626445
[TBL] [Abstract][Full Text] [Related]
5. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
Fukami M; Naiki Y; Muroya K; Hamajima T; Soneda S; Horikawa R; Jinno T; Katsumi M; Nakamura A; Asakura Y; Adachi M; Ogata T; Kanzaki S;
J Hum Genet; 2015 Sep; 60(9):553-6. PubMed ID: 26040210
[TBL] [Abstract][Full Text] [Related]
6. SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.
Sandoval GT; Jaimes GC; Barrios MC; Cespedes C; Velasco HM
Mol Genet Genomic Med; 2014 Mar; 2(2):95-102. PubMed ID: 24689071
[TBL] [Abstract][Full Text] [Related]
7. Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.
Miranda V; Sabeh P; Seiltgens C; Molidperee S; Janelle C; Lemyre E; Campeau PM
Eur J Hum Genet; 2024 Jun; ():. PubMed ID: 38914686
[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. 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]
10. Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.
Fanelli A; Vannelli S; Babu D; Mellone S; Cucci A; Monzani A; Al Essa W; Secco A; Follenzi A; Bellone S; Prodam F; Giordano M
Mol Genet Genomic Med; 2022 Jan; 10(1):e1793. PubMed ID: 34811950
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts.
Bunyan DJ; Hobbs JI; Duncan-Flavell PJ; Howarth RJ; Beal S; Baralle D; Thomas NS
Cytogenet Genome Res; 2022; 162(11-12):587-598. PubMed ID: 36927524
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene.
Choi WB; Seo SH; Yoo WH; Kim SY; Kwak MJ
Ann Pediatr Endocrinol Metab; 2015 Sep; 20(3):162-5. PubMed ID: 26512353
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.
Kenyon EJ; McEwen GK; Callaway H; Elgar G
PLoS One; 2011; 6(6):e21498. PubMed ID: 21731768
[TBL] [Abstract][Full Text] [Related]
20. Cytogenetic and Molecular Genetic Characterization of Children with Short Stature.
Hovnik T; Šmigoc Schweiger D; Kotnik P; Kovač J; Battelino T; Trebušak Podkrajšek K
Zdr Varst; 2015 Jun; 54(2):98-102. PubMed ID: 27646915
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
