BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 10770125)

  • 1. Two female siblings from Turkey with Langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome).
    Balci S; Zafer Y; Unsal M
    Turk J Pediatr; 1999; 41(4):531-9. PubMed ID: 10770125
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.
    Kunze J; Klemm T
    Eur J Pediatr; 1980 Sep; 134(3):269-72. PubMed ID: 7428776
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Complete SHOX deficiency causes Langer mesomelic dysplasia.
    Zinn AR; Wei F; Zhang L; Elder FF; Scott CI; Marttila P; Ross JL
    Am J Med Genet; 2002 Jun; 110(2):158-63. PubMed ID: 12116254
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
    Shears DJ; Guillen-Navarro E; Sempere-Miralles M; Domingo-Jimenez R; Scambler PJ; Winter RM
    Am J Med Genet; 2002 Jun; 110(2):153-7. PubMed ID: 12116253
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
    Ambrosetti F; Palicelli A; Bulfamante G; Rivasi F
    Fetal Pediatr Pathol; 2014 Apr; 33(2):71-83. PubMed ID: 23883335
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Léri-Weill dyschondrosteosis].
    Koch HL
    Rofo; 1983 May; 138(5):603-6. PubMed ID: 6406322
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical variations in Léri-Weill dyschondrosteosis].
    Duro EA; Prado GS
    An Esp Pediatr; 1990 Nov; 33(5):461-3. PubMed ID: 2096761
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
    Barca-Tierno V; Aza-Carmona M; Barroso E; Heine-Suner D; Azmanov D; Rosell J; Ezquieta B; Montané LS; Vendrell T; Cruz J; Santos F; Rodríguez JI; Pozo J; Argente J; Kalaydjieva L; Gracía R; Campos-Barros A; Benito-Sanz S; Heath KE
    Eur J Hum Genet; 2011 Dec; 19(12):1218-25. PubMed ID: 21712857
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Differential diagnosis of Madelung's deformity: Léri-Weill syndrome].
    Ahmadi A; Zilch H
    Handchir Mikrochir Plast Chir; 1987 Nov; 19(6):315-7. PubMed ID: 3692340
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
    Albuisson J; Schmitt S; Baron S; Bézieau S; Benito-Sanz S; Heath KE
    Eur J Hum Genet; 2012 Aug; 20(8):. PubMed ID: 22510850
    [No Abstract]   [Full Text] [Related]  

  • 16. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
    Binder G; Renz A; Martinez A; Keselman A; Hesse V; Riedl SW; Häusler G; Fricke-Otto S; Frisch H; Heinrich JJ; Ranke MB
    J Clin Endocrinol Metab; 2004 Sep; 89(9):4403-8. PubMed ID: 15356038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.
    Fryns JP; Van Den Berghe H
    Hum Genet; 1979 Jan; 46(1):21-7. PubMed ID: 429003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Can Multiple Hereditary Exostoses Overlap With Mesomelic Dysplasia?
    Al Kaissi A; Ben Ghachem M; Ben Chehida F; Hofstaetter JG; Grill F; Ganger R; Kircher SG
    J Clin Med Res; 2016 Aug; 8(8):605-9. PubMed ID: 27429682
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.