BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 19033726)

  • 1. Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
    Massardier J; Roth P; Michel-Calemard L; Rudigoz RC; Bouvier R; Dijoud F; Arnould P; Combourieu D; Gaucherand P
    Fetal Diagn Ther; 2008; 24(4):452-7. PubMed ID: 19033726
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
    Gentilin B; Forzano F; Bedeschi MF; Rizzuti T; Faravelli F; Izzi C; Lituania M; Rodriguez-Perez C; Bondioni MP; Savoldi G; Grosso E; Botta G; Viora E; Baffico AM; Lalatta F
    Ultrasound Obstet Gynecol; 2010 Sep; 36(3):315-23. PubMed ID: 20812307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
    Tonni G; Ventura A; Pattacini P; Bonasoni MP; Baffico AM
    J Obstet Gynaecol Res; 2013 May; 39(5):1085-91. PubMed ID: 23551858
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cystic hygroma and micromelic lower limbs: First-trimester sonographic markers of campomelic dysplasia.
    Zhen L; Xu LL; Li DZ
    Eur J Obstet Gynecol Reprod Biol; 2019 Jul; 238():191-193. PubMed ID: 31133349
    [No Abstract]   [Full Text] [Related]  

  • 5. Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
    Barone C; Bartoloni G; Baffico AM; Pappalardo E; Mura I; Ettore G; Bianca S
    Congenit Anom (Kyoto); 2014 Aug; 54(3):193-4. PubMed ID: 24451061
    [No Abstract]   [Full Text] [Related]  

  • 6. Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
    Chen SY; Lin SJ; Tsai LP; Chou YY
    Urology; 2012 Apr; 79(4):908-11. PubMed ID: 21962881
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.
    Carvajal N; Martínez-García M; Chagoyen M; Morcillo N; Pino A; Lorda I; Trujillo-Tiebas MJ
    Gene; 2016 Feb; 577(2):289-92. PubMed ID: 26631621
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
    Stoeva R; Grozdanova L; Scherer G; Krasteva M; Bausch E; Krastev T; Linev A; Stefanova M
    Genet Couns; 2011; 22(1):49-53. PubMed ID: 21614988
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of campomelic dysplasia without sex reversal.
    Kim HY; Yoon CH; Kim GH; Yoo HW; Lee BS; Kim KS; Kim EA
    J Korean Med Sci; 2011 Jan; 26(1):143-5. PubMed ID: 21218044
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
    Walters-Sen LC; Thrush DL; Hickey SE; Hashimoto S; Reshmi S; Gastier-Foster JM; Pyatt RE; Astbury C
    Eur J Med Genet; 2014 Jul; 57(7):315-8. PubMed ID: 24821304
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with
    Liu X; Wang J; Yang M; Tian T; Hu T
    Front Genet; 2022; 13():950271. PubMed ID: 36105084
    [No Abstract]   [Full Text] [Related]  

  • 12. Prenatal diagnosis of campomelic dysplasia due to
    Kayhan G; Calis P; Karcaaltincaba D; Tug E
    J Obstet Gynaecol; 2019 Nov; 39(8):1175-1176. PubMed ID: 31234679
    [No Abstract]   [Full Text] [Related]  

  • 13. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
    Wada Y; Nishimura G; Nagai T; Sawai H; Yoshikata M; Miyagawa S; Hanita T; Sato S; Hasegawa T; Ishikawa S; Ogata T
    Am J Med Genet A; 2009 Dec; 149A(12):2882-5. PubMed ID: 19921652
    [No Abstract]   [Full Text] [Related]  

  • 14. Dominant-negative SOX9 mutations in campomelic dysplasia.
    Csukasi F; Duran I; Zhang W; Martin JH; Barad M; Bamshad M; Weis MA; Eyre D; Krakow D; Cohn DH
    Hum Mutat; 2019 Dec; 40(12):2344-2352. PubMed ID: 31389106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9.
    Lecointre C; Pichon O; Hamel A; Heloury Y; Michel-Calemard L; Morel Y; David A; Le Caignec C
    Am J Med Genet A; 2009 Jun; 149A(6):1183-9. PubMed ID: 19449405
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.
    Nelson ME; Griffin GR; Innis JW; Green GE
    Ann Otol Rhinol Laryngol; 2011 Oct; 120(10):682-5. PubMed ID: 22097155
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
    Michel-Calemard L; Lesca G; Morel Y; Boggio D; Plauchu H; Attia-Sobol J
    Prenat Diagn; 2004 Jul; 24(7):519-23. PubMed ID: 15300742
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial campomelic dysplasia due to maternal germinal mosaicism.
    Higeta D; Yamaguchi R; Takagi T; Nishimura G; Sameshima K; Saito K; Minegishi T
    Congenit Anom (Kyoto); 2018 Nov; 58(6):194-197. PubMed ID: 29542186
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.
    Okamoto T; Nakamura E; Nagaya K; Hayashi T; Mukai T; Fujieda K
    J Pediatr Endocrinol Metab; 2010 Nov; 23(11):1189-93. PubMed ID: 21284335
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
    Staffler A; Hammel M; Wahlbuhl M; Bidlingmaier C; Flemmer AW; Pagel P; Nicolai T; Wegner M; Holzinger A
    Hum Mutat; 2010 Jun; 31(6):E1436-44. PubMed ID: 20513132
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.