154 related articles for article (PubMed ID: 38070826)
21. 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]
22. 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]
23.
Srivastava P; Tyagi A; Bamba C; Kumari A; Kaur H; Seth S; Kaur A; Panigrahi I; Dayal D; Pramanik S; Mandal K
J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):41-49. PubMed ID: 37750395
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report.
Volejnikova J; Zapletalova J; Jarosova M; Urbankova H; Petr V; Klaskova E; Horwitz MS; Hajduch M; Mihal V
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2018 Mar; 162(1):65-70. PubMed ID: 29469136
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.
Depeyre A; Schlund M; Nicot R; Ferri J
J Oral Maxillofac Surg; 2019 Apr; 77(4):762-768. PubMed ID: 30529377
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.
Bunyan DJ; Taylor EJ; Maloney VK; Blyth M
Am J Med Genet A; 2014 Nov; 164A(11):2764-8. PubMed ID: 25125269
[TBL] [Abstract][Full Text] [Related]
32. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
Musebeck J; Mohnike K; Beye P; Tönnies H; Neitzel H; Schnabel D; Grüters A; Wieacker PF; Stumm M
Eur J Pediatr; 2001 Sep; 160(9):561-5. PubMed ID: 11585080
[TBL] [Abstract][Full Text] [Related]
33. Epidemiology of SHOX deficiency.
Nicolosi A; Caruso-Nicoletti M
J Endocrinol Invest; 2010 Jun; 33(6 Suppl):7-10. PubMed ID: 21057178
[TBL] [Abstract][Full Text] [Related]
34. Short stature due to SHOX deficiency: genotype, phenotype, and therapy.
Binder G
Horm Res Paediatr; 2011 Feb; 75(2):81-9. PubMed ID: 21325865
[TBL] [Abstract][Full Text] [Related]
35. SHOX at a glance: from gene to protein.
Marchini A; Rappold G; Schneider KU
Arch Physiol Biochem; 2007 Jun; 113(3):116-23. PubMed ID: 17922307
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.
Joustra SD; Kamp GA; Stalman SE; Donze SH; Losekoot M; Kant SG; de Bruin C; Oostdijk W; Wit JM
Horm Res Paediatr; 2019; 92(6):372-381. PubMed ID: 32344414
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. 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]
[Previous] [Next] [New Search]
