BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 34487414)

  • 1. Current state of the art in treatment of Mendelian disease: Skeletal dysplasias.
    Hoover-Fong J
    Am J Med Genet A; 2021 Nov; 185(11):3359-3368. PubMed ID: 34487414
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic heterogeneity in skeletal dysplasias.
    Frias JL
    Ann Clin Lab Sci; 1975; 5(6):435-9. PubMed ID: 812417
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.
    Woo EJ; Lee WJ; Hu KS; Hwang JJ
    PLoS One; 2015; 10(10):e0140901. PubMed ID: 26488291
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The skeletal dysplasias: clinical-molecular correlations.
    Rimoin DL; Cohn D; Krakow D; Wilcox W; Lachman RS; Alanay Y
    Ann N Y Acad Sci; 2007 Nov; 1117():302-9. PubMed ID: 18056050
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Advances in Skeletal Dysplasia Genetics.
    Geister KA; Camper SA
    Annu Rev Genomics Hum Genet; 2015; 16():199-227. PubMed ID: 25939055
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Life span care for patients with skeletal dysplasia: A roadmap.
    Nijhuis WH; Verhoef M; Sakkers RJB
    Eur J Med Genet; 2023 Nov; 66(11):104851. PubMed ID: 37758161
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
    Faden M; AlZahrani F; Mendoza-Londono R; Dupuis L; Hartley T; Kannu P; Raiman JA; Howard A; Qin W; Tetreault M; Xi JQ; Al-Thamer I; ; Maas RL; Boycott K; Alkuraya FS
    Am J Hum Genet; 2015 Oct; 97(4):608-15. PubMed ID: 26365341
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
    Itai T; Wang Z; Nishimura G; Ohashi H; Guo L; Wakano Y; Sugiura T; Hayakawa H; Okada M; Saisu T; Kitta A; Doi H; Kurosawa K; Hotta Y; Hosono K; Sato M; Shimizu K; Takikawa K; Watanabe S; Ikeda N; Suzuki M; Fujita A; Uchiyama Y; Tsuchida N; Miyatake S; Miyake N; Matsumoto N; Ikegawa S
    Clin Genet; 2022 Jul; 102(1):3-11. PubMed ID: 35342932
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
    Handa A; Grigelioniene G; Nishimura G
    Radiographics; 2023 May; 43(5):e220067. PubMed ID: 37053103
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Miscellaneous Bone Disorders.
    Mughal MZ; Padidela R
    Endocr Dev; 2015; 28():226-246. PubMed ID: 26138845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nosology and classification of genetic skeletal disorders: 2019 revision.
    Mortier GR; Cohn DH; Cormier-Daire V; Hall C; Krakow D; Mundlos S; Nishimura G; Robertson S; Sangiorgi L; Savarirayan R; Sillence D; Superti-Furga A; Unger S; Warman ML
    Am J Med Genet A; 2019 Dec; 179(12):2393-2419. PubMed ID: 31633310
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bone dysplasia.
    Linglart A; Merzoug V; Lambert AS; Adamsbaum C
    Ann Endocrinol (Paris); 2017 Jun; 78(2):114-122. PubMed ID: 28495326
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
    Weinstein MM; Kang T; Lachman RS; Bamshad M; Nickerson DA; Krakow D; Cohn DH
    Am J Med Genet A; 2016 Dec; 170(12):3298-3302. PubMed ID: 27530454
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
    Bober MB; Jackson AP
    Curr Osteoporos Rep; 2017 Apr; 15(2):61-69. PubMed ID: 28409412
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
    Barraza-García J; Rivera-Pedroza CI; Hisado-Oliva A; Belinchón-Martínez A; Sentchordi-Montané L; Duncan EL; Clark GR; Del Pozo A; Ibáñez-Garikano K; Offiah A; Prieto-Matos P; Cormier-Daire V; Heath KE
    Clin Genet; 2017 Jul; 92(1):91-98. PubMed ID: 28067412
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bone dysplasias: the A, B, C of radiographic interpretation.
    Castriota-Scanderbeg A
    J Endocrinol Invest; 2010 Jun; 33(6 Suppl):26-9. PubMed ID: 21057182
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A review of the principles of radiological assessment of skeletal dysplasias.
    Alanay Y; Lachman RS
    J Clin Res Pediatr Endocrinol; 2011; 3(4):163-78. PubMed ID: 22155458
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
    Andreucci E; Aftimos S; Alcausin M; Haan E; Hunter W; Kannu P; Kerr B; McGillivray G; McKinlay Gardner RJ; Patricelli MG; Sillence D; Thompson E; Zacharin M; Zankl A; Lamandé SR; Savarirayan R
    Orphanet J Rare Dis; 2011 Jun; 6():37. PubMed ID: 21658220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The Leri-Weill syndrome. Illustration of a case].
    Chiappo GF; Mignone F; Zannino L
    Minerva Pediatr; 1973 Sep; 25(31):1315-26. PubMed ID: 4766776
    [No Abstract]   [Full Text] [Related]  

  • 20. Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
    Lachman RS; Tiller GE; Graham JM; Rimoin DL
    Eur J Radiol; 1992; 14(1):1-10. PubMed ID: 1563395
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.