BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 28965976)

  • 1. The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
    Matsumoto A; Imagawa E; Miyake N; Ikeda T; Kobayashi M; Goto M; Matsumoto N; Yamagata T; Osaka H
    Brain Dev; 2018 Apr; 40(4):325-329. PubMed ID: 28965976
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
    Takano T; Ota H; Ohishi H; Hata K; Furukawa R; Nakabayashi K
    Eur J Med Genet; 2021 Nov; 64(11):104332. PubMed ID: 34481091
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of
    Antwi P; Hong CS; Duran D; Jin SC; Dong W; DiLuna M; Kahle KT
    Cold Spring Harb Mol Case Stud; 2018 Jun; 4(3):. PubMed ID: 29695406
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
    Gopakumar H; Superti-Furga A; Unger S; Scherer G; Rajiv PK; Nampoothiri S
    Indian J Pediatr; 2014 Jan; 81(1):98-100. PubMed ID: 23564514
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
    Preiksaitiene E; Benušienė E; Matulevičienė A; Grigalionienė K; Utkus A; Kučinskas V
    Am J Med Genet A; 2016 Mar; 170(3):781-4. PubMed ID: 26602066
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
    Castori M; Bottillo I; Morlino S; Barone C; Cascone P; ; Grammatico P; Laino L
    Birth Defects Res A Clin Mol Teratol; 2016 Jan; 106(1):61-8. PubMed ID: 26663529
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
    Fonseca AC; Bonaldi A; Bertola DR; Kim CA; Otto PA; Vianna-Morgante AM
    BMC Med Genet; 2013 May; 14():50. PubMed ID: 23648064
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature.
    Narimatsu K; Iida A; Kobayashi T
    Cleft Palate Craniofac J; 2022 Jan; 59(1):132-136. PubMed ID: 33576275
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 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. 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]  

    [Next]    [New Search]
    of 6.