173 related articles for article (PubMed ID: 10543407)
1. X/Y translocation in a family with Leri-Weill dyschondrosteosis.
Calabrese G; Fischetto R; Stuppia L; Capodiferro F; Mingarelli R; Causio F; Rocchi M; Rappold GA; Palka G
Hum Genet; 1999 Oct; 105(4):367-8. PubMed ID: 10543407
[TBL] [Abstract][Full Text] [Related]
2. A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.
Wei F; Cheng S; Badie N; Elder F; Scott C; Nicholson L; Ross JL; Zinn AR
Am J Med Genet; 2001 Sep; 102(4):353-8. PubMed ID: 11503163
[TBL] [Abstract][Full Text] [Related]
3. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
Borie C; Léger J; Dupuy O; Hassan M; Ledu N; Lebbar A; Czernichow P; Eydoux P
Am J Med Genet A; 2004 Mar; 125A(2):186-90. PubMed ID: 14981722
[TBL] [Abstract][Full Text] [Related]
4. Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling.
Baralle D; Willatt LR; Shears DJ
Am J Med Genet; 2000 Dec; 95(4):391-5. PubMed ID: 11186896
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.
Stuppia L; Calabrese G; Borrelli P; Gatta V; Morizio E; Mingarelli R; Di Gilio MC; Crinò A; Giannotti A; Rappold GA; Palka G
J Med Genet; 1999 Sep; 36(9):711-3. PubMed ID: 10507731
[TBL] [Abstract][Full Text] [Related]
7. SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.
Ogata T
Growth Horm IGF Res; 1999 Jun; 9 Suppl B():53-7; discussion 57-8. PubMed ID: 10549307
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
Benito-Sanz S; Gorbenko del Blanco D; Huber C; Thomas NS; Aza-Carmona M; Bunyan D; Maloney V; Argente J; Cormier-Daire V; Campos-Barros A; Heath KE
Am J Hum Genet; 2006 Aug; 79(2):409-14; author reply 414. PubMed ID: 16826534
[No Abstract] [Full Text] [Related]
11. 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]
12. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
Bleyl SB; Byrne JL; South ST; Dries DC; Stevenson DA; Rope AF; Vianna-Morgante AM; Schoenwolf GC; Kivlin JD; Brothman A; Carey JC
Am J Med Genet A; 2007 Dec; 143A(23):2785-95. PubMed ID: 17994562
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
Palka G; Stuppia L; Guanciali Franchi P; Chiarelli F; Fischetto R; Borrelli P; Giannotti A; Fioretti G; Rinaldi MM; Mingarelli R; Rappold GA; Calabrese G
Clin Genet; 2000 Jun; 57(6):449-53. PubMed ID: 10905666
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.
Seidel J; Schiller S; Kelbova C; Beensen V; Orth U; Vogt S; Claussen U; Zintl F; Rappold GA
Clin Genet; 2001 Feb; 59(2):115-21. PubMed ID: 11260213
[TBL] [Abstract][Full Text] [Related]
18. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).
Reinehr T; Jauch A; Zoll B; Engel U; Bartels I; Andler W
Am J Med Genet; 2001 Jul; 102(1):81-5. PubMed ID: 11471178
[TBL] [Abstract][Full Text] [Related]
19. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
Jorge AA; Souza SC; Nishi MY; Billerbeck AE; Libório DC; Kim CA; Arnhold IJ; Mendonca BB
Clin Endocrinol (Oxf); 2007 Jan; 66(1):130-5. PubMed ID: 17201812
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
