These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 30608402)

  • 1. X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.
    Liu Y; Wang L; Xu B; Yang Y; Shan D; Wu Q
    Medicine (Baltimore); 2019 Jan; 98(1):e13850. PubMed ID: 30608402
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.
    Umranikar S; Glanc P; Unger S; Keating S; Fong K; Trevors CD; Myles-Reid D; Chitayat D
    Prenat Diagn; 2006 Dec; 26(13):1235-40. PubMed ID: 17086568
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe X-linked chondrodysplasia punctata in nine new female fetuses.
    Lefebvre M; Dufernez F; Bruel AL; Gonzales M; Aral B; Saint-Onge J; Gigot N; Desir J; Daelemans C; Jossic F; Schmitt S; Mangione R; Pelluard F; Vincent-Delorme C; Labaune JM; Bigi N; D'Olne D; Delezoide AL; Toutain A; Blesson S; Cormier-Daire V; Thevenon J; El Chehadeh S; Masurel-Paulet A; Joyé N; Vibert-Guigue C; Rigonnot L; Rousseau T; Vabres P; Hervé P; Lamazière A; Rivière JB; Faivre L; Laurent N; Thauvin-Robinet C
    Prenat Diagn; 2015 Jul; 35(7):675-84. PubMed ID: 25754886
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
    Ikegawa S; Ohashi H; Ogata T; Honda A; Tsukahara M; Kubo T; Kimizuka M; Shimode M; Hasegawa T; Nishimura G; Nakamura Y
    Am J Med Genet; 2000 Oct; 94(4):300-5. PubMed ID: 11038443
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
    Blask AR; Rubio EI; Chapman KA; Lawrence AK; Bulas DI
    Pediatr Radiol; 2018 Jul; 48(7):979-991. PubMed ID: 29572747
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].
    Polák P; Baxová A; Křepelová A; Balák M
    Ceska Gynekol; 2014 Jun; 79(3):193-7. PubMed ID: 25054955
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.
    Hellenbroich Y; Grzeschik KH; Krapp M; Jarutat T; Lehrmann-Petersen C; Buiting K; Gillessen-Kaesbach G
    Eur J Med Genet; 2007; 50(5):392-8. PubMed ID: 17625999
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.
    Whittock NV; Izatt L; Simpson-Dent SL; Becker K; Wakelin SH
    Prenat Diagn; 2003 Sep; 23(9):701-4. PubMed ID: 12975777
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
    Barboza-Cerda MC; Wong LJ; Martínez-de-Villarreal LE; Zhang VW; Déctor MA
    Am J Med Genet A; 2014 Jul; 164A(7):1642-7. PubMed ID: 24700572
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
    Shirahama S; Miyahara A; Kitoh H; Honda A; Kawase A; Yamada K; Mabuchi A; Kura H; Yokoyama Y; Tsutsumi M; Ikeda T; Tanaka N; Nishimura G; Ohashi H; Ikegawa S
    Hum Genet; 2003 Jan; 112(1):78-83. PubMed ID: 12483303
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).
    Herman GE; Kelley RI; Pureza V; Smith D; Kopacz K; Pitt J; Sutphen R; Sheffield LJ; Metzenberg AB
    Genet Med; 2002; 4(6):434-8. PubMed ID: 12509714
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.
    Derry JM; Gormally E; Means GD; Zhao W; Meindl A; Kelley RI; Boyd Y; Herman GE
    Nat Genet; 1999 Jul; 22(3):286-90. PubMed ID: 10391218
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
    He G; Yin Y; Zhao J; Wang X; Yang J; Chen X; Ding L; Bai Y
    BMC Pediatr; 2019 Jul; 19(1):250. PubMed ID: 31337364
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
    Wessels MW; Den Hollander NJ; De Krijger RR; Nikkels PG; Brandenburg H; Hennekam R; Willems PJ
    Am J Med Genet A; 2003 Jul; 120A(1):97-104. PubMed ID: 12794700
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
    Milunsky JM; Maher TA; Metzenberg AB
    Am J Med Genet A; 2003 Jan; 116A(3):249-54. PubMed ID: 12503101
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
    Benaicha A; Dommergues M; Jouannic JM; Jacquette A; Alexandre M; Le Merrer M; Ducou Le Pointe H; Garel C
    Ultrasound Obstet Gynecol; 2009 Dec; 34(6):724-6. PubMed ID: 19856318
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
    Cañueto J; Girós M; Ciria S; Pi-Castán G; Artigas M; García-Dorado J; García-Patos V; Virós A; Vendrell T; Torrelo A; Hernández-Martín A; Martín-Hernández E; Garcia-Silva MT; Fernández-Burriel M; Rosell J; Tejedor M; Martínez F; Valero J; García JL; Sánchez-Tapia EM; Unamuno P; González-Sarmiento R
    Br J Dermatol; 2012 Apr; 166(4):830-8. PubMed ID: 22121851
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).
    Horikoshi T; Kikuchi A; Tamaru S; Ono K; Kita M; Takagi K; Miyashita S; Kawame H; Shimokawa O; Harada N
    J Obstet Gynaecol Res; 2010 Jun; 36(3):671-5. PubMed ID: 20598055
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].
    Omobono E; Goetsch W
    Minerva Pediatr; 1993 Mar; 45(3):117-21. PubMed ID: 8341225
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
    Posey JE; Burrage LC; Campeau PM; Lu JT; Eble TN; Kratz L; Schlesinger AE; Gibbs RA; Lee BH; Nagamani SC
    Am J Med Genet A; 2015 Jun; 167(6):1309-14. PubMed ID: 25846959
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.