BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 22375084)

  • 1. The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
    Donnelly DE; McConnell V; Paterson A; Morrison PJ
    Ulster Med J; 2010 Sep; 79(3):114-8. PubMed ID: 22375084
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The birth prevalence rates for the skeletal dysplasias.
    Orioli IM; Castilla EE; Barbosa-Neto JG
    J Med Genet; 1986 Aug; 23(4):328-32. PubMed ID: 3746832
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
    Bondioni MP; Pazzaglia UE; Izzi C; Di Gaetano G; Laffranchi F; Baldi M; Prefumo F
    Radiol Med; 2017 Nov; 122(11):880-891. PubMed ID: 28674909
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.
    Orioli IM; Castilla EE; Scarano G; Mastroiacovo P
    Am J Med Genet; 1995 Nov; 59(2):209-17. PubMed ID: 8588588
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Skeletal dysplasias: 38 prenatal cases.
    Witters I; Moerman P; Fryns JP
    Genet Couns; 2008; 19(3):267-75. PubMed ID: 18990981
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.
    Connor JM; Connor RA; Sweet EM; Gibson AA; Patrick WJ; McNay MB; Redford DH
    Am J Med Genet; 1985 Oct; 22(2):243-53. PubMed ID: 3901754
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of skeletal dysplasias in the Utah population.
    Stevenson DA; Carey JC; Byrne JL; Srisukhumbowornchai S; Feldkamp ML
    Am J Med Genet A; 2012 May; 158A(5):1046-54. PubMed ID: 22461456
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
    Terasawa S; Kato A; Nishizawa H; Kato T; Yoshizawa H; Noda Y; Miyazaki J; Ito M; Sekiya T; Fujii T; Kurahashi H
    Congenit Anom (Kyoto); 2019 Jan; 59(1):4-10. PubMed ID: 29542187
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.
    Waller DK; Correa A; Vo TM; Wang Y; Hobbs C; Langlois PH; Pearson K; Romitti PA; Shaw GM; Hecht JT
    Am J Med Genet A; 2008 Sep; 146A(18):2385-9. PubMed ID: 18698630
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bone dysplasias of infancy in the Vienna collection.
    Beighton P; Sujansky E; Patzak B; Portele KA
    Pediatr Radiol; 1994; 24(6):384-6. PubMed ID: 7700712
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Some chondrodysplasias with short limbs: molecular perspectives.
    Cohen MM
    Am J Med Genet; 2002 Oct; 112(3):304-13. PubMed ID: 12357475
    [TBL] [Abstract][Full Text] [Related]  

  • 12. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
    Farmakis SG; Shinawi M; Miller-Thomas M; Radmanesh A; Herman TE
    Skeletal Radiol; 2015 Mar; 44(3):441-5. PubMed ID: 25119967
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
    Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
    Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
    Wattanasirichaigoon D; Charoenpipop D
    J Med Assoc Thai; 2006 Aug; 89(8):1287-92. PubMed ID: 17048442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of thanatophoric dysplasia using clinical exome screening.
    Holub M; Sekowská M; Smetanová D; Koudová M; Sobolová K; Šinská A; Heřman H
    Ceska Gynekol; 2023; 88(5):376-379. PubMed ID: 37932055
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia.
    Guo C; Degnin CR; Laederich MB; Lunstrum GP; Holden P; Bihlmaier J; Krakow D; Cho YJ; Horton WA
    Cell Signal; 2008 Aug; 20(8):1471-7. PubMed ID: 18485666
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal sonographic diagnosis of skeletal dysplasias.
    Schramm T; Gloning KP; Minderer S; Daumer-Haas C; Hörtnagel K; Nerlich A; Tutschek B
    Ultrasound Obstet Gynecol; 2009 Aug; 34(2):160-70. PubMed ID: 19548204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Lethal osteogenesis imperfecta. Prenatal diagnosis].
    Dhouib M; Guirat N
    Presse Med; 2004 Jun; 33(10):658-60. PubMed ID: 15257238
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.
    Takagi M; Kaneko-Schmitt S; Suzumori N; Nishimura G; Hasegawa T
    Am J Med Genet A; 2012 Jan; 158A(1):247-50. PubMed ID: 22106050
    [No Abstract]   [Full Text] [Related]  

  • 20. Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
    Barton C; Sweeney E; Roberts D; McPartland J
    Clin Dysmorphol; 2010 Jul; 19(3):146-149. PubMed ID: 20357663
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.