1 |
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.
61
54
6
56
|
Faqeih E...Rauch F
|
19208385 |
2009 |
2 |
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
6
56
54
61
|
Molyneux K...Dalgleish R
|
8444468 |
1993 |
3 |
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen.
56
6
61
|
Cole WG...Lam TP
|
8728690 |
1996 |
4 |
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa.
61
56
6
|
Beighton P...Versfeld GA
|
3995789 |
1985 |
5 |
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.
56
6
|
Cabral WA...Marini JC
|
15024692 |
2004 |
6 |
G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.
56
6
|
Cabral WA...Marini JC
|
11286507 |
2001 |
7 |
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
6
56
|
Pruchno CJ...Byers PH
|
2037280 |
1991 |
8 |
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
56
6
|
Starman BJ...Byers PH
|
2794057 |
1989 |
9 |
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
61
54
6
|
Lu J...Cole WG
|
7749416 |
1995 |
10 |
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
6
54
61
|
Rose NJ...Dalgleish R
|
8081394 |
1994 |
11 |
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.
6
54
|
Nuytinck L...De Paepe A
|
10807697 |
2000 |
12 |
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
54
6
|
Oliver JE...Nicholls AC
|
8723681 |
1996 |
13 |
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).
54
6
|
Namikawa C...Hata A
|
7789952 |
1995 |
14 |
Osteogenesis imperfecta type III: an ancient mutation in Africa?
56
61
|
Viljoen D...Beighton P
|
3425600 |
1987 |
15 |
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.
61
56
|
Sillence DO...Rimoin DL
|
3953678 |
1986 |
16 |
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.
56
|
Bellur S...Nagamani SC
|
26426884 |
2016 |
17 |
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
6
|
Swinnen FK...Dhooge IJ
|
19358256 |
2009 |
18 |
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
6
|
Bodian DL...Klein TE
|
18996919 |
2009 |
19 |
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.
6
|
Roschger P...Rauch F
|
18311573 |
2008 |
20 |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
6
|
Marini JC...Byers PH
|
17078022 |
2007 |
21 |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
6
|
Venturi G...Tato L
|
16879195 |
2006 |
22 |
Genetic evaluation of suspected osteogenesis imperfecta (OI).
56
|
Byers PH...American college of medical genetics
|
16778601 |
2006 |
23 |
Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation.
56
|
Rauch F...Glorieux FH
|
16434452 |
2006 |
24 |
COL1A1/2 Osteogenesis Imperfecta
6
|
Steiner RD...Basel D
|
20301472 |
2005 |
25 |
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
6
|
Hartikka H...Ala-Kokko L
|
15241796 |
2004 |
26 |
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
6
|
Ries-Levavi L...Friedman E
|
15024745 |
2004 |
27 |
Gene targeting in stem cells from individuals with osteogenesis imperfecta.
56
|
Chamberlain JR...Russell DW
|
14976317 |
2004 |
28 |
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV.
56
|
Zeitlin L...Glorieux FH
|
12728084 |
2003 |
29 |
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism.
56
|
Rauch F...Glorieux FH
|
12629073 |
2003 |
30 |
Modeling the benefits of pamidronate in children with osteogenesis imperfecta.
56
|
Lindsay R
|
12417561 |
2002 |
31 |
The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta.
56
|
Rauch F...Glorieux FH
|
12417568 |
2002 |
32 |
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta.
56
|
Astrom E...Soderhall S
|
11970931 |
2002 |
33 |
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
6
|
Ward LM...Glorieux FH
|
11317364 |
2001 |
34 |
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
6
|
Ries L...Friedman E
|
11113887 |
2000 |
35 |
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age.
56
|
Plotkin H...Glorieux FH
|
10843163 |
2000 |
36 |
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
56
|
De Paepe A...Fryns JP
|
9099837 |
1997 |
37 |
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
6
|
Lund AM...Schwartz M
|
9143923 |
1997 |
38 |
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
6
|
Wang Q...Marini JC
|
8910493 |
1996 |
39 |
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
6
|
Nuytinck L...De Paepe A
|
8786074 |
1996 |
40 |
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
6
|
Zhuang J...Prockop DJ
|
8669434 |
1996 |
41 |
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
6
|
Forlino A...Mottes M
|
7881420 |
1994 |
42 |
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.
6
|
Willing MC...Roberts EJ
|
7942841 |
1994 |
43 |
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.
6
|
Marini JC...Chen K
|
8456809 |
1993 |
44 |
Dominant mutations in familial lethal and severe osteogenesis imperfecta.
56
|
Cohen-Solal L...Maroteaux P
|
1864604 |
1991 |
45 |
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
6
|
Bateman JF...Cole WG
|
2064612 |
1991 |
46 |
Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
6
|
Pack M...Prockop DJ
|
2511192 |
1989 |
47 |
Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.
56
|
Tenni R...Castellani AA
|
3402997 |
1988 |
48 |
Organization of the human pro-alpha 2(I) collagen gene.
6
|
de Wet W...Ramirez F
|
2824475 |
1987 |
49 |
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.
6
|
Wallis G...Mathew CG
|
3023615 |
1986 |
50 |
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
6
|
de Vries WN...de Wet WJ
|
3722186 |
1986 |