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3. Pathogenic mechanisms in osteochondrodysplasias. Stanescu V; Stanescu R; Maroteaux P J Bone Joint Surg Am; 1984 Jul; 66(6):817-36. PubMed ID: 6376516 [TBL] [Abstract][Full Text] [Related]
4. Cardiac malformation in two infants with hypochondrogenesis. Potocki L; Abuelo DN; Oyer CE Am J Med Genet; 1995 Nov; 59(3):295-9. PubMed ID: 8599352 [TBL] [Abstract][Full Text] [Related]
6. The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia. Maroteaux P; Stanescu R; Stanescu V; Fontaine G Eur J Pediatr; 1980 May; 133(3):227-31. PubMed ID: 7389735 [TBL] [Abstract][Full Text] [Related]
7. Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. Young ID; Ruggins NR; Somers JM; Zuccollo JM; Rutter N J Med Genet; 1992 Nov; 29(11):831-3. PubMed ID: 1453438 [TBL] [Abstract][Full Text] [Related]
8. Family with probable achondrogenesis and lipid inclusions in fibroblasts. Laxova R; Ohara PT; Ridler MA; Timothy JA Arch Dis Child; 1973 Mar; 48(3):212-6. PubMed ID: 4120916 [TBL] [Abstract][Full Text] [Related]
9. Normal lipid composition of fibroblasts from a case of type II achondrogenesis. Le Lous M; Hors-Cayla MC; Hendrickx GF; Maroteaux P Eur J Pediatr; 1980 Aug; 134(2):159-60. PubMed ID: 7439202 [TBL] [Abstract][Full Text] [Related]
10. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Mortier GR; Wilkin DJ; Wilcox WR; Rimoin DL; Lachman RS; Eyre DR; Cohn DH Hum Mol Genet; 1995 Feb; 4(2):285-8. PubMed ID: 7757081 [TBL] [Abstract][Full Text] [Related]
11. Two lethal chondrodysplasias with giant chondrocytes. Yang SS; Roskamp J; Liu CT; Frates R; Singer DB Am J Med Genet; 1983 Aug; 15(4):615-25. PubMed ID: 6614049 [TBL] [Abstract][Full Text] [Related]
12. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. Mortier GR; Weis M; Nuytinck L; King LM; Wilkin DJ; De Paepe A; Lachman RS; Rimoin DL; Eyre DR; Cohn DH J Med Genet; 2000 Apr; 37(4):263-71. PubMed ID: 10745044 [TBL] [Abstract][Full Text] [Related]
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15. Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. Borochowitz Z; Ornoy A; Lachman R; Rimoin DL Am J Med Genet; 1986 Jun; 24(2):273-88. PubMed ID: 3717210 [TBL] [Abstract][Full Text] [Related]
16. Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. Yang SS; Chen H; Williams P; Cacciarelli A; Misra RP; Bernstein J Arch Pathol Lab Med; 1980 Apr; 104(4):208-11. PubMed ID: 6244801 [TBL] [Abstract][Full Text] [Related]
17. A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy. Kulczycka H; Rodo M; Czarnowska E; Czlonkowska A; Wehr H; Pronicka E; Wozniewicz B Acta Anthropogenet; 1985; 9(1-3):103-8. PubMed ID: 3843743 [TBL] [Abstract][Full Text] [Related]
18. Achondrogenesis type I: light and electron-microscopic studies. Molz G; Spycher MA Eur J Pediatr; 1980 Jun; 134(1):69-74. PubMed ID: 6250850 [TBL] [Abstract][Full Text] [Related]
19. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Lemyre E; Azouz EM; Teebi AS; Glanc P; Chen MF Can Assoc Radiol J; 1999 Jun; 50(3):185-97. PubMed ID: 10405653 [TBL] [Abstract][Full Text] [Related]