BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 36965046)

  • 1. The respiratory elastance ratio in thanatophoric dysplasia: A case report.
    Aoki K; Kurosawa H; Shirasawa A; Shiomi Y; Seino Y
    Pediatr Int; 2023; 65(1):e15534. PubMed ID: 36965046
    [No Abstract]   [Full Text] [Related]  

  • 2. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
    Simsek M; Al-Gazali L; Al-Mjeni R; Bayoumi R
    Clin Biochem; 2003 Mar; 36(2):151-3. PubMed ID: 12633765
    [No Abstract]   [Full Text] [Related]  

  • 3. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
    Lindy AS; Basehore MJ; Munisha M; Williams AL; Friez MJ; Writzl K; Willems P; Dougan ST
    Am J Med Genet A; 2016 Jun; 170(6):1573-9. PubMed ID: 27028100
    [TBL] [Abstract][Full Text] [Related]  

  • 4. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
    Delahaye S; Rosenblatt J; Costa JM; Bazin A; Bénifla JL; Jouannic JM
    Prenat Diagn; 2010 Dec; 30(12-13):1222-3. PubMed ID: 20949643
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
    Yang Y; Liu YN; Li DZ
    Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
    Castori M; Morlino S; Radio FC; De Bernardo C; Grammatico P
    Am J Med Genet A; 2013 Oct; 161A(10):2675-7. PubMed ID: 24038754
    [No Abstract]   [Full Text] [Related]  

  • 8. Thanatophoric dysplasia type I.
    Chang TK; Wang Y; Liu AM; Tung JC
    Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M; Park SH
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thanatophoric dysplasia: a case report.
    Jagun OE; Olusola-Bello MA; Adekanmbi AF; Jagun OO; Oduwole T
    Pan Afr Med J; 2020; 37():220. PubMed ID: 33520059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
    Sahin S; Ograg H; Aslan EA; Akcan AB; Turkmen MK; Moosa S; Elcioglu NH
    Genet Couns; 2016; 27(4):513-517. PubMed ID: 30226972
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis.
    Mondal A; Mandal B; Das RN; Chatterjee U; Mukherjee S
    Indian J Pathol Microbiol; 2021; 64(4):776-779. PubMed ID: 34673602
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A case of thanatophoric dysplasia type 2: a novel mutation.
    Gülaşı S; Atıcı A; Çelik Y
    J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L; Pan M; Han J; Yang X; Liao C; Li DZ
    J Obstet Gynaecol; 2015; 35(7):685-7. PubMed ID: 25671245
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.
    Liu YN; Li R; Li DZ
    J Matern Fetal Neonatal Med; 2011 Jan; 24(1):186-8. PubMed ID: 20569165
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
    Tsai FJ; Tsai CH; Chang JG; Wu JY
    Am J Med Genet; 1999 Sep; 86(3):300-1. PubMed ID: 10482885
    [No Abstract]   [Full Text] [Related]  

  • 19. Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.
    Pazzaglia UE; Donzelli CM; Izzi C; Baldi M; Di Gaetano G; Bondioni M
    Skeletal Radiol; 2014 Sep; 43(9):1205-15. PubMed ID: 24859745
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.
    Wong HS; Kidd A; Zuccollo J; Tuohy J; Strand L; Tait J; Pringle KC
    Fetal Diagn Ther; 2008; 24(1):71-3. PubMed ID: 18504386
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.