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1. Bateman, JF
   The molecular genetics of inherited cartilage disease
   OSTEOARTHRITIS AND CARTILAGE
   
   J.F. Bateman, "The molecular genetics of inherited cartilage disease", OSTEO CART, 9, 2001, pp. S141-S149
2. Nicholls, AC; Valler, D; Wallis, S; Pope, FM
   Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype
   JOURNAL OF MEDICAL GENETICS
   
   A.C. Nicholls et al., "Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype", J MED GENET, 38(2), 2001, pp. 132-135
3. Schwarze, U; Schievink, WI; Petty, E; Jaff, MR; Babovic-Vuksanovic, D; Cherry, KJ; Pepin, M; Byers, PH
   Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   U. Schwarze et al., "Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV", AM J HU GEN, 69(5), 2001, pp. 989-1001
4. De Paepe, A; Nuytinck, L
   Heritable collagen disorders: From genotype to phenotype
   ACTA CLINICA BELGICA
   
   A. De Paepe e L. Nuytinck, "Heritable collagen disorders: From genotype to phenotype", ACT CLIN B, 56(1), 2001, pp. 10-16
5. Byers, PH
   Collagens: building blocks at the end of the development line
   CLINICAL GENETICS
   
   P.H. Byers, "Collagens: building blocks at the end of the development line", CLIN GENET, 58(4), 2000, pp. 270-279
6. Wenstrup, RJ; Florer, JB; Willing, MC; Giunta, C; Steinmann, B; Young, F; Susic, M; Cole, WG
   COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   R.J. Wenstrup et al., "COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS", AM J HU GEN, 66(6), 2000, pp. 1766-1776
7. Miller, ME; Hangartner, TN
   Bone density measurements by computed tomography in osteogenesis imperfecta type I
   OSTEOPOROSIS INTERNATIONAL
   
   M.E. Miller e T.N. Hangartner, "Bone density measurements by computed tomography in osteogenesis imperfecta type I", OSTEOPOR IN, 9(5), 1999, pp. 427-432
8. Mirandola, S; Pignatti, PF; Mottes, M
   A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA
   MOLECULAR AND CELLULAR PROBES
   
   S. Mirandola et al., "A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA", MOL CELL PR, 13(3), 1999, pp. 243-245
9. Nuytinck, L; Sayli, BS; Karen, W; De Paepe, A
   Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-alleletesting
   PRENATAL DIAGNOSIS
   
   L. Nuytinck et al., "Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-alleletesting", PRENAT DIAG, 19(9), 1999, pp. 873-875
10. Wang, PC; Merchant, SN; McKenna, MJ; Glynn, RJ; Nadol, JB
    Does otosclerosis occur only in the temporal bone?
    AMERICAN JOURNAL OF OTOLOGY
    
    P.C. Wang et al., "Does otosclerosis occur only in the temporal bone?", AM J OTOL, 20(2), 1999, pp. 162-165
11. PETERSEN K; WETZEL WE
    RECENT FINDINGS IN CLASSIFICATION OF OSTEOGENESIS IMPERFECTA BY MEANSOF EXISTING DENTAL SYMPTOMS
    Journal of dentistry for children
    
    K. Petersen e W.E. Wetzel, "RECENT FINDINGS IN CLASSIFICATION OF OSTEOGENESIS IMPERFECTA BY MEANSOF EXISTING DENTAL SYMPTOMS", Journal of dentistry for children, 65(5), 1998, pp. 305
12. KUIVANIEMI H; TROMP G; PROCKOP DJ
    MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS
    Human mutation
    
    H. Kuivaniemi et al., "MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS", Human mutation, 9(4), 1997, pp. 300-315
13. OGUNSALU C; HANCHARD B
    FAMILIAL TARDA TYPE OSTEOGENESIS IMPERFECTA WITH DENTINOGENESIS IMPERFECTA TYPE-I - CASE-REPORT
    Australian dental journal
    
    C. Ogunsalu e B. Hanchard, "FAMILIAL TARDA TYPE OSTEOGENESIS IMPERFECTA WITH DENTINOGENESIS IMPERFECTA TYPE-I - CASE-REPORT", Australian dental journal, 42(3), 1997, pp. 175-177
14. SCHWARZE U; GOLDSTEIN JA; BYERS PH
    SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV
    American journal of human genetics
    
    U. Schwarze et al., "SPLICING DEFECTS IN THE COL3A1 GENE - MARKED PREFERENCE FOR 5'-(DONOR) SPLICE-SITE MUTATIONS IN PATIENTS WITH EXON-SKIPPING MUTATIONS AND EHLERS-DANLOS-SYNDROME TYPE-IV", American journal of human genetics, 61(6), 1997, pp. 1276-1286
15. WALTIMO J; RANTA H; LUKIMNAA PL
    ULTRASTRUCTURE OF DENTIN MATRIX IN HERITABLE DENTIN DEFECTS
    Scanning microscopy
    
    J. Waltimo et al., "ULTRASTRUCTURE OF DENTIN MATRIX IN HERITABLE DENTIN DEFECTS", Scanning microscopy, 9(1), 1995, pp. 185-198
16. STEPHENS K; ZLOTOGORSKI A; SMITH L; EHRLICH P; WIJSMAN E; LIVINGSTON RJ; SYBERT VP
    EPIDERMOLYSIS-BULLOSA SIMPLEX - A KERATIN-5 MUTATION IS A FULLY DOMINANT ALLELE IN EPIDERMAL CYTOSKELETON FUNCTION
    American journal of human genetics
    
    K. Stephens et al., "EPIDERMOLYSIS-BULLOSA SIMPLEX - A KERATIN-5 MUTATION IS A FULLY DOMINANT ALLELE IN EPIDERMAL CYTOSKELETON FUNCTION", American journal of human genetics, 56(3), 1995, pp. 577-585
17. BONADIO J; JEPSEN KJ; MANSOURA MK; JAENISCH R; KUHN JL; GOLDSTEIN SA
    A MURINE SKELETAL ADAPTATION THAT SIGNIFICANTLY INCREASES CORTICAL BONE MECHANICAL-PROPERTIES - IMPLICATIONS FOR HUMAN SKELETAL FRAGILITY
    The Journal of clinical investigation
    
    J. Bonadio et al., "A MURINE SKELETAL ADAPTATION THAT SIGNIFICANTLY INCREASES CORTICAL BONE MECHANICAL-PROPERTIES - IMPLICATIONS FOR HUMAN SKELETAL FRAGILITY", The Journal of clinical investigation, 92(4), 1993, pp. 1697-1705