BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 11186896)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
    Spranger S; Schiller S; Jauch A; Wolff K; Rauterberg-Ruland I; Hager D; Tariverdian G; Tröger J; Rappold G
    Am J Med Genet; 1999 Apr; 83(5):367-71. PubMed ID: 10232745
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    Doherty MJ; Glass IA; Bennett CL; Cotter PD; Watson NF; Mitchell AL; Bird TD; Farrell DF
    Epilepsia; 2003 Dec; 44(12):1529-35. PubMed ID: 14636323
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
    Barroso E; Benito-Sanz S; Belinchón A; Yuste-Checa P; Gracia R; Aragones A; Campos-Barros A; Heath KE
    Eur J Med Genet; 2010; 53(4):204-7. PubMed ID: 20412871
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.
    Schiller S; Spranger S; Schechinger B; Fukami M; Merker S; Drop SL; Tröger J; Knoblauch H; Kunze J; Seidel J; Rappold GA
    Eur J Hum Genet; 2000 Jan; 8(1):54-62. PubMed ID: 10713888
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
    Evers C; Heidemann PH; Dunstheimer D; Schulze E; Haag C; Janssen JW; Fischer C; Jauch A; Moog U
    Clin Genet; 2011 May; 79(5):489-94. PubMed ID: 20681991
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Leri-Weill syndrome (dyschondrosteosis). Description of 2 clinical cases].
    Radetti G; Pasquino B; Munari E; Mengarda G
    Pediatr Med Chir; 1987; 9(3):367-70. PubMed ID: 3671136
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.
    Mutesa L; Vanbellinghen JF; Hellin AC; Segers K; Jamar M; Pierquin G; Bours V
    Genet Couns; 2009; 20(1):9-17. PubMed ID: 19400538
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
    Binder G; Fritsch H; Schweizer R; Ranke MB
    Horm Res; 2001; 55(2):71-6. PubMed ID: 11509862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.
    Ogata T; Wakui K; Kosho T; Muroya K; Yamanouchi Y; Takano T; Fukushima Y; Rappold G; Suzuki Y
    Am J Med Genet; 2000 Jun; 92(4):256-9. PubMed ID: 10842291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Leri-Weill syndrome (dyschondrosteosis): a family study.
    Mohan V; Gupta RP; Helmi K; Marklund T
    J Hand Surg Br; 1988 Feb; 13(1):16-8. PubMed ID: 3361200
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
    Boucher CA; Sargent CA; Ogata T; Affara NA
    J Med Genet; 2001 Sep; 38(9):591-8. PubMed ID: 11546827
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.