Literature DB >> 3612714

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

I D Young, E M Thompson, C M Hall, M E Pembrey.   

Abstract

Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.

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Year:  1987        PMID： 3612714      PMCID： PMC1050145          DOI： 10.1136/jmg.24.7.386

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  14 in total

1.  The prenatal diagnosis of osteogenesis imperfecta congenita.

Authors:  R H Heller; K J Winn; R M Heller
Journal:  Am J Obstet Gynecol       Date:  1975-02-15       Impact factor: 8.661

2.  The molecular genetics of collagen.

Authors:  B Sykes
Journal:  Bioessays       Date:  1985-09       Impact factor: 4.345

3.  Recurrence risk in osteogenesis imperfecta congenita.

Authors:  I D Young; P S Harper
Journal:  Lancet       Date:  1980-02-23       Impact factor: 79.321

4.  Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

Authors:  M L Chu; C J Williams; G Pepe; J L Hirsch; D J Prockop; F Ramirez
Journal:  Nature       Date:  1983 Jul 7-13       Impact factor: 49.962

5.  Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II).

Authors:  J E Shapiro; J A Phillips; P H Byers; R Sanders; K A Holbrook; L S Levin; J Dorst; G S Barsh; K E Peterson; P Goldstein
Journal:  J Pediatr       Date:  1982-01       Impact factor: 4.406

6.  Midtrimester diagnosis of osteogenesis imperfecta, type II.

Authors:  N D Dinno; U A Yacoub; J F Kadlec; K L Garver
Journal:  Birth Defects Orig Artic Ser       Date:  1982

7.  Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.

Authors:  J F Bateman; T Mascara; D Chan; W G Cole
Journal:  Biochem J       Date:  1984-01-01       Impact factor: 3.857

8.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

9.  Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

Authors:  G S Barsh; P H Byers
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

10.  Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

Authors:  R P Penttinen; J R Lichtenstein; G R Martin; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-02       Impact factor: 11.205
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  10 in total

Review 1.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

2.  Segregation analysis of dominant osteogenesis imperfecta in Italy.

Authors:  M Mottes; L Cugola; N Cappello; P F Pignatti
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

3.  Osteogenesis imperfecta with partial trisomy 15.

Authors:  Rajniti Prasad; Biswanath Basu; Utpal Kant Singh; Om Prakash Mishra
Journal:  BMJ Case Rep       Date:  2009-02-26

4.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

5.  Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

Authors:  J R Lynch; D Ogilvie; L Priestley; C Baigrie; R Smith; P Farndon; B Sykes
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

6.  Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia.

Authors:  P M Royce; A Blumberg; R P Zurbrügg; A Zimmermann; J P Colombo; B Steinmann
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

7.  Paternal age and sporadic schizophrenia: evidence for de novo mutations.

Authors:  Dolores Malaspina; Cheryl Corcoran; Cherine Fahim; Ariela Berman; Jill Harkavy-Friedman; Scott Yale; Deborah Goetz; Raymond Goetz; Susan Harlap; Jack Gorman
Journal:  Am J Med Genet       Date:  2002-04-08

8.  Dominant mutations in familial lethal and severe osteogenesis imperfecta.

Authors:  L Cohen-Solal; J Bonaventure; P Maroteaux
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

9.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Authors:  D H Cohn; B J Starman; B Blumberg; P H Byers
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

10.  CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Authors:  Fleur S Van Dijk; Isabel M Nesbitt; Peter G J Nikkels; Ann Dalton; Ernie M H F Bongers; Jiddeke M van de Kamp; Yvonne Hilhorst-Hofstee; Nicolette S Den Hollander; Augusta M A Lachmeijer; Carlo L Marcelis; Gita M B Tan-Sindhunata; Rick R van Rijn; Hanne Meijers-Heijboer; Jan M Cobben; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2009-06-24       Impact factor: 4.246
  10 in total

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