BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

100 related articles for article (PubMed ID: 8723087)

  • 1. Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients.
    Lowry RB; Wesenberg RL; Hall JG
    Am J Med Genet; 1996 May; 63(1):55-61. PubMed ID: 8723087
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
    Karaer K; Rosti RO; Torun D; Sanal HT; Bahçe M; Güran S
    Turk J Pediatr; 2011; 53(3):346-51. PubMed ID: 21980822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Oto-palato-digital syndrome type II.
    Stoll C; Alembik Y
    Genet Couns; 1994; 5(1):61-6. PubMed ID: 8031537
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year.
    Kuwashima S; Nishimura G; Kikushima H; Tanaka G; Furukawa T; Fujioka M
    Acta Paediatr Jpn; 1992 Oct; 34(5):543-6. PubMed ID: 1442028
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC; Thomas PS; Hutchinson J
    Am J Med Genet; 1986 May; 24(1):33-9. PubMed ID: 3706411
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation. A case report].
    Herrera-Martínez AD; Estrada-Corona P
    Invest Clin; 2010 Dec; 51(4):553-60. PubMed ID: 21365879
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.
    Brewster TG; Lachman RS; Kushner DC; Holmes LB; Isler RJ; Rimoin DL
    Am J Med Genet; 1985 Feb; 20(2):249-54. PubMed ID: 3976718
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Oto-palato-digital syndrome in an Iranian infant.
    Farhud DD; Walizadeh GR; Farhud I
    Monatsschr Kinderheilkd; 1989 Oct; 137(10):681-3. PubMed ID: 2555708
    [TBL] [Abstract][Full Text] [Related]  

  • 9. New form of platyspondylic lethal chondrodysplasia.
    Akaba K; Nishimura G; Hashimoto M; Wakabayashi T; Kanasugi H; Hayasaka K
    Am J Med Genet; 1996 Dec; 66(4):464-7. PubMed ID: 8989469
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Limb pterygium syndromes: a review and report of eleven patients.
    Hall JG; Reed SD; Rosenbaum KN; Gershanik J; Chen H; Wilson KM
    Am J Med Genet; 1982 Aug; 12(4):377-409. PubMed ID: 7124793
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Acrofacial dysostoses.
    Le Merrer M; Cikuli M; Ribier J; Briard ML
    Am J Med Genet; 1989 Jul; 33(3):318-22. PubMed ID: 2801764
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.
    Eddy MC; Steiner RD; McAlister WH; Whyte MP
    Am J Med Genet; 1998 May; 77(3):182-7. PubMed ID: 9605584
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A; Colletto GM; Gollop TR; Masiero D
    Am J Med Genet; 1985 Apr; 20(4):631-8. PubMed ID: 2986457
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML; Pai GS; Wilkes B; Lebel RR
    Am J Med Genet; 2001 Aug; 102(3):237-42. PubMed ID: 11484200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.
    Cole WG
    Clin Orthop Relat Res; 1997 Aug; (341):162-9. PubMed ID: 9269170
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A case report of a patient with cleft palate carrying the risk of tetraplegia.
    Isik D; Guner S; Avcu S; Goktas U; Atik B
    Cleft Palate Craniofac J; 2011 Nov; 48(6):773-5. PubMed ID: 20828273
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Stature and severity in multiple epiphyseal dysplasia.
    Haga N; Nakamura K; Takikawa K; Manabe N; Ikegawa S; Kimizuka M
    J Pediatr Orthop; 1998; 18(3):394-7. PubMed ID: 9600570
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
    Borochowitz Z; Langer LO; Gruber HE; Lachman R; Katznelson MB; Rimoin DL
    Am J Med Genet; 1993 Feb; 45(3):320-6. PubMed ID: 8434618
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early diagnosis of multiple epiphyseal dysplasia.
    Ingram RR
    J Pediatr Orthop; 1992; 12(2):241-4. PubMed ID: 1552030
    [TBL] [Abstract][Full Text] [Related]  

  • 20. C. John Hodson Lecture. Reflections on epiphyseal dysplasias.
    Silverman FN
    AJR Am J Roentgenol; 1996 Oct; 167(4):835-42. PubMed ID: 8819367
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.