SHOX-Gen
Klinisch | Untersuchungsmethoden | Familienuntersuchung |
Bearbeitungszeit | 5 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
Klinisch | Untersuchungsmethoden | Multiplex ligationsabhängige Amplifikation |
Bearbeitungszeit | 25 Tage | |
Probentyp | genomische DNS |
1. |
Binder G et al. (2004) SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. |
2. |
Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. |
3. |
Spranger S et al. (1999) Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. |
4. |
Kosho T et al. (1999) Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. |
5. |
Clement-Jones M et al. (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. |
6. |
Ogata T et al. (2000) Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. |
7. |
Rao E et al. (2001) The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. |
8. |
Ogata T et al. (2002) SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. |
9. |
May CA et al. (2002) Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. |
10. |
Shears DJ et al. (2002) Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. |
11. |
Zinn AR et al. (2002) Complete SHOX deficiency causes Langer mesomelic dysplasia. |
12. |
Niesler B et al. (2002) The human SHOX mutation database. |
13. |
Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. |
14. |
Schneider KU et al. (2005) Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. |
16. |
Fukami M et al. (2006) Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. |
17. |
Zinn AR et al. (2006) A second recombination hotspot associated with SHOX deletions. |
18. |
Rappold G et al. (2007) Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. |
19. |
Marchini A et al. (2007) BNP is a transcriptional target of the short stature homeobox gene SHOX. |
20. |
Bleyl SB et al. (2007) Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. |
21. |
None (1980) Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. |
22. |
Kuznetzova T et al. (1994) X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. |
23. |
Kivlin JD et al. (1993) Brachymesomelia and Peters anomaly: a new syndrome. |
24. |
Guichet A et al. (1997) Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? |
25. |
Rao E et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. |
26. |
Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia. |
27. |
Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. |
28. |
Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. |
29. |
Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. |
30. |
Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). |
31. |
Schiller S et al. (2000) Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome. |
32. |
Grigelioniene G et al. (2000) Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. |
33. |
Huber C et al. (2001) SHOX point mutations in dyschondrosteosis. |
34. |
Ross JL et al. (2001) Phenotypes Associated with SHOX Deficiency. |
35. |
Benito-Sanz S et al. (2005) A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. |
36. |
Gatta V et al. (2007) Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. |
37. |
Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. |
38. |
Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. |
39. |
Shears DJ et al. (1998) Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. |
40. |
Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. |
41. |
Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause. |
42. |
Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). |
43. |
Ogata T et al. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. |
44. |
Henke A et al. (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. |
45. |
Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. |
46. |
Zuffardi O et al. (1982) The role of Yp in sex determination: new evidence from X/Y translocations. |
48. |
Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. |
49. |
NCBI article NCBI 6473 |
50. |
OMIM.ORG article Omim 312865 |
51. |
Orphanet article Orphanet ID 118707 |
52. |
Wikipedia Artikel Wikipedia DE (SHOX) |