BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 8267011)

  • 1. Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.
    Langer LO; Schaefer GB; Wadsworth DT
    Am J Med Genet; 1993 Oct; 47(5):772-81. PubMed ID: 8267011
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pseudoachondroplastic dysplasia.
    Khungar A; Mahajan P; Gupte G; Vasundhara M; Kher A; Bharucha BA
    J Postgrad Med; 1993; 39(2):91-3. PubMed ID: 8169872
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
    Vatanavicharn N; Lachman RS; Rimoin DL
    Am J Med Genet A; 2008 Jul; 146A(13):1682-6. PubMed ID: 18546327
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
    Susic S; McGrory J; Ahier J; Cole WG
    Clin Genet; 1997 Apr; 51(4):219-24. PubMed ID: 9184241
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [The pseudoachondroplastic form of spondyloepiphyseal dysplasia: apropos of 2 cases].
    Cataldo F; Viani G; Albeggiani A
    Pediatr Med Chir; 1989; 11(3):359-63. PubMed ID: 2594570
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
    Unger S; Korkko J; Krakow D; Lachman RS; Rimoin DL; Cohn DH
    Am J Med Genet; 2001 Nov; 104(2):140-6. PubMed ID: 11746045
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
    Briggs MD; Chapman KL
    Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
    Woods CG; Rogers JG; Mayne V
    J Med Genet; 1994 Jul; 31(7):565-9. PubMed ID: 7966194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
    Briggs MD; Hoffman SM; King LM; Olsen AS; Mohrenweiser H; Leroy JG; Mortier GR; Rimoin DL; Lachman RS; Gaines ES
    Nat Genet; 1995 Jul; 10(3):330-6. PubMed ID: 7670472
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Pseudoachondrodysplasia (pseudoachondroplastic spondyloepiphyseal dysplasia). Description of 2 non-familial cases].
    Giordano F; Corso D; Basile G; Noto D; Orsi E; Chiappara GM; Camera G
    Pathologica; 1989; 81(1076):627-34. PubMed ID: 2635292
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.
    Günthard J; Fliegel C; Ohnacker H; Rutishauser M; Bühler E
    Clin Genet; 1995 Jul; 48(1):35-40. PubMed ID: 7586642
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia.
    Kitoh H; Oki T; Arao K; Nogami H
    Am J Med Genet; 1994 Jul; 51(3):187-90. PubMed ID: 8074142
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
    Unger S; Hecht JT
    Am J Med Genet; 2001; 106(4):244-50. PubMed ID: 11891674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bones.
    Manabe N; Nakamura K; Ikegawa S; Kimizuka M
    Eur J Radiol; 1998 Sep; 28(2):155-9. PubMed ID: 9788021
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Pseudo-achondroplasia and hypochondroplasia].
    Tscherninkoff Z; Zandev J
    Radiol Diagn (Berl); 1990; 31(1):71-4. PubMed ID: 2343092
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia).
    Gellis SS; Feingold M; Hall JG
    Am J Dis Child; 1974 Dec; 128(6):833-4. PubMed ID: 4440652
    [No Abstract]   [Full Text] [Related]  

  • 18. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
    Ballo R; Briggs MD; Cohn DH; Knowlton RG; Beighton PH; Ramesar RS
    Am J Med Genet; 1997 Feb; 68(4):396-400. PubMed ID: 9021009
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Achondroplasia-hypochondroplasia complex.
    Sommer A; Young-Wee T; Frye T
    Am J Med Genet; 1987 Apr; 26(4):949-57. PubMed ID: 3591840
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
    El-Lababidi N; Zikánová M; Baxová A; Nosková L; Leiská A; Lambert L; Honzík T; Zeman J
    Prague Med Rep; 2020; 121(3):153-162. PubMed ID: 33030144
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.