BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 8471223)

  • 1. An unclassifiable type of spondylo-peripheral epiphyseal dysplasia associated with 21 trisomy.
    Ioan DM; Popa M; Fryns JP
    Genet Couns; 1993; 4(1):59-62. PubMed ID: 8471223
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case with spondylo-metaphyseal dysplasia type A4.
    Percin EF; Tukenmez M; Percin S
    Genet Couns; 2004; 15(3):363-9. PubMed ID: 15517830
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
    Menger H; Mundlos S; Becker K; Spranger J; Zabel B
    Am J Med Genet; 1996 May; 63(1):80-3. PubMed ID: 8723091
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.
    Eberle AJ
    Am J Med Genet; 1993 Sep; 47(4):464-7. PubMed ID: 8256805
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
    Borochowitz ZU; Scheffer D; Adir V; Dagoneau N; Munnich A; Cormier-Daire V
    J Med Genet; 2004 May; 41(5):366-72. PubMed ID: 15121775
    [No Abstract]   [Full Text] [Related]  

  • 6. [Clinico-genetic analysis of multiple epiphyseal dysplasia].
    Meerson EM; Nechvolodova OL; Iukina GP; Bruskina VIa
    Ortop Travmatol Protez; 1985 Dec; (12):13-7. PubMed ID: 4094735
    [No Abstract]   [Full Text] [Related]  

  • 7. Progressive pseudorheumatoid dysplasia: report of a family and review.
    el-Shanti HE; Omari HZ; Qubain HI
    J Med Genet; 1997 Jul; 34(7):559-63. PubMed ID: 9222963
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
    MacDermot KD; Roth SC; Hall C; Winter RM
    J Med Genet; 1987 Oct; 24(10):602-8. PubMed ID: 3681905
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type".
    Sharma BG
    Skeletal Radiol; 2003 Feb; 32(2):111-5. PubMed ID: 12589493
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Localised form of spondylo-epiphyseal dysplasia congenita.
    Hoeffel JC; Mohy R; Collignon P; Moog G
    Rontgenblatter; 1988 Jan; 41(1):20-2. PubMed ID: 3353656
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.
    Silverman FN; Reiley MA
    Radiology; 1985 Aug; 156(2):365-71. PubMed ID: 3925497
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.
    Rybak M; Foley TP; Kozlowski K
    Am J Med Genet; 1991 Sep; 40(3):304-6. PubMed ID: 1951433
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height.
    Legius E; Mulier M; Van Damme B; Fryns JP
    Clin Genet; 1993 Sep; 44(3):152-5. PubMed ID: 8275575
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Does it always have to be Perthes' disease? What is epiphyseal dysplasia?
    Hesse B; Kohler G
    Clin Orthop Relat Res; 2003 Sep; (414):219-27. PubMed ID: 12966296
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Spondylo-epiphyseal dysplasia. Description of a family].
    Bonora G; Manzoni D; Rogari P; Pizzi E; Andreoli A; Nedbal M
    Pediatr Med Chir; 1988; 10(1):111-4. PubMed ID: 3375124
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spondylo-epi-metaphyseal dysplasia.
    Cormier-Daire V
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):33-44. PubMed ID: 18328979
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
    Adachi H; Takahashi I; Takahashi T
    Pediatr Int; 2014 Dec; 56(6):925-928. PubMed ID: 25521980
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
    Takagi M; Shimizu M; Suzuki E; Shinohara H; Narumi S; Hasegawa T; Nishimura G; Hasegawa Y
    Am J Med Genet A; 2016 Mar; 170(3):795-8. PubMed ID: 26586363
    [No Abstract]   [Full Text] [Related]  

  • 20. CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report.
    de Almeida JC; Vargas FR; Barbosa-Neto JG; Llerena JC
    Am J Med Genet; 1995 Jan; 55(1):19-20. PubMed ID: 7702089
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.