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 *

109 related articles for article (PubMed ID: 11059551)

  • 1. A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia.
    Imamura Y; Kondoh T; Kamei T; Tsuru A; Shimasaki Y; Kinoshita E; Matsumoto T; Moriuchi H
    Pediatr Int; 2000 Oct; 42(5):564-7. PubMed ID: 11059551
    [No Abstract]   [Full Text] [Related]  

  • 2. Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly.
    Nastasi S; Gonzalez A; Blake CR; Beck A; Agarwal-Sinha S
    J Glaucoma; 2018 Oct; 27(10):e165-e167. PubMed ID: 30095606
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
    Chitayat D; Fernandez B; Gardner A; Moore L; Glance P; Dunn M; Chun K; Sgro M; Ray P; Allingham-Hawkins D
    Am J Med Genet; 1999 Jun; 84(5):401-5. PubMed ID: 10360393
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Achondroplasia-hypochondroplasia complex in a newborn infant.
    Huggins MJ; Smith JR; Chun K; Ray PN; Shah JK; Whelan DT
    Am J Med Genet; 1999 Jun; 84(5):396-400. PubMed ID: 10360392
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Robinow syndrome.
    Singh SK; Bhadada SK; Singh R; Sinha SK; Singh SK; Agrawal JK
    J Assoc Physicians India; 2000 Aug; 48(8):836-7. PubMed ID: 11273483
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical syndromes associated with skeletal dysplasias.
    Wiedemann HR
    Klin Padiatr; 1972 May; 184(3):165-74. PubMed ID: 4627859
    [No Abstract]   [Full Text] [Related]  

  • 7. [Dysplasia epiphysialis punctata caused by failure of proliferatin cartilage: achondroplasia and hypochondroplasia].
    Delgado A; Gonzalez E; Imizcoz FL; Bueno M; San Julian M
    Rev Med Univ Navarra; 1971 Jun; 15(2):101-16. PubMed ID: 5162172
    [No Abstract]   [Full Text] [Related]  

  • 8. Down syndrome, achondroplasia and tetralogy of Fallot.
    Dabir T; McCrossan BA; Sweeney L; Magee A; Sands AJ
    Neonatology; 2008; 94(1):68-70. PubMed ID: 18196933
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Dysplasia epiphysialis punctata caused by failure of proliferating cartilage: achondroplasia and hypochondroplasia].
    Delgado A; González E; Imízcoz FL; San Julián M; Bueno M
    Rev Med Univ Navarra; 1972 Jun; 15(2):101-16. PubMed ID: 5048535
    [No Abstract]   [Full Text] [Related]  

  • 10. Achondroplasia in two sisters with normal parents.
    Bowen P
    Birth Defects Orig Artic Ser; 1974; 10(12):31-6. PubMed ID: 4461062
    [No Abstract]   [Full Text] [Related]  

  • 11. [Achondrogenesis and thanatophoric nanism. Clinical, radiological and genetic aspects].
    Camera G; Centa A
    Minerva Pediatr; 1976 Sep; 28(29):1785-94. PubMed ID: 1012215
    [No Abstract]   [Full Text] [Related]  

  • 12. Type III psuedoachondroplastic dysplasia (dominant inheritance).
    Lindstrom JA
    Birth Defects Orig Artic Ser; 1974; 10(12):368-74. PubMed ID: 4461071
    [No Abstract]   [Full Text] [Related]  

  • 13. [Pseudo-achondroplastic dysplasia. Apropos of a case].
    Pagniez B; Saint-Aubert P; Farriaux JP; Fontaine G
    Ann Pediatr (Paris); 1972 Dec; 19(12):897-903. PubMed ID: 4630443
    [No Abstract]   [Full Text] [Related]  

  • 14. [Clinical studies on hypercreatine phosphokinasemia in emergency diseases].
    Miyamoto M; Sudo T; Kuyama T; Kawamura M; Ishiyama K; Tsubakimoto R; Fukunishi K; Bessho H; Yasuda C; Uchida T
    Nihon Geka Hokan; 1990 May; 59(3):263-71. PubMed ID: 2130790
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Thanatophoric dwarfism.
    Kaufman RL; Rimoin DL; McAlister WH; Kissane JM
    Am J Dis Child; 1970 Jul; 120(1):53-7. PubMed ID: 4987261
    [No Abstract]   [Full Text] [Related]  

  • 16. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
    Rimoin DL; Rasmussen IM; Briggs MD; Roughley PJ; Gruber HE; Warman ML; Olsen BR; Hsia YE; Yuen J; Reinker K
    Hum Genet; 1994 Mar; 93(3):236-42. PubMed ID: 7907311
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The congenitally malformed. 13. Achondroplastic dwarfism; diagnosis and management.
    Shepard TH; Graham CB
    Northwest Med; 1967 May; 66(5):451-6. PubMed ID: 5623812
    [No Abstract]   [Full Text] [Related]  

  • 18. Molecular diagnosis is important to confirm suspected pseudoachondroplasia.
    Newman B; Donnah D; Briggs MD
    J Med Genet; 2000 Jan; 37(1):64-5. PubMed ID: 10691412
    [No Abstract]   [Full Text] [Related]  

  • 19. Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.
    Shin YL; Choi JH; Kim GH; Yoo HW
    J Pediatr Endocrinol Metab; 2005 Oct; 18(10):999-1005. PubMed ID: 16355813
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Thanatophoric dwarfism: a report of two infants.
    Sehgal D; Mulenga H; Chintu C
    East Afr Med J; 1983 Oct; 60(10):713-7. PubMed ID: 6671430
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.