Literature DB >> 8411056

A three generation family with fibrodysplasia ossificans progressiva.

J M Connor1, H Skirton, P W Lunt.   

Abstract

A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations.

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Year:  1993        PMID: 8411056      PMCID: PMC1016500          DOI: 10.1136/jmg.30.8.687

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


  8 in total

1.  Early myositis ossificans progressiva occurring in homozygotic twins; a clinical and pathologic study.

Authors:  W L EATON; W S CONKLING; C W DAESCHNER
Journal:  J Pediatr       Date:  1957-05       Impact factor: 4.406

2.  Synovial osteochondromatosis: a histopathological study of thirty cases.

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Journal:  J Bone Joint Surg Am       Date:  1977-09       Impact factor: 5.284

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Authors:  C M Hall; J Sutcliffe
Journal:  Ann Radiol (Paris)       Date:  1979 Mar-Apr

4.  Paternal age effect in fibrodysplasia ossificans progressiva.

Authors:  J G Rogers; G A Chase
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

5.  The cervical spine in fibrodysplasia ossificans progressiva.

Authors:  J M Connor; R Smith
Journal:  Br J Radiol       Date:  1982-07       Impact factor: 3.039

6.  Genetic aspects of fibrodysplasia ossificans progressiva.

Authors:  J M Connor; D A Evans
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

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Authors:  W Tünte; P E Becker; G V Knorre
Journal:  Humangenetik       Date:  1967

8.  Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.

Authors:  J M Connor; D A Evans
Journal:  J Bone Joint Surg Br       Date:  1982
  8 in total
  10 in total

1.  Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

Authors:  G Feldman; M Li; S Martin; M Urbanek; J A Urtizberea; M Fardeau; M LeMerrer; J M Connor; J Triffitt; R Smith; M Muenke; F S Kaplan; E M Shore
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  An unusual cause of pulmonary hypertension and right heart failure.

Authors:  S Orme; J C Underwood; E McCloskey; T J Hendra
Journal:  Postgrad Med J       Date:  1998-11       Impact factor: 2.401

3.  Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end.

Authors:  A Morales-Piga; J Bachiller-Corral; P González-Herranz; M Medrano-SanIldelfonso; J Olmedo-Garzón; G Sánchez-Duffhues
Journal:  Rheumatol Int       Date:  2015-06-07       Impact factor: 2.631

4.  Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.

Authors:  Gin-Ah Song; Hyun-Jung Kim; Kyung-Mi Woo; Jeong-Hwa Baek; Gwan-Shik Kim; Jin-Young Choi; Hyun-Mo Ryoo
Journal:  J Biol Chem       Date:  2010-05-12       Impact factor: 5.157

5.  De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

Authors:  Gau-Tyan Lin; Hsueh-Wei Chang; Chih-Shan Liu; Peng-Ju Huang; Hsien-Chung Wang; Yuh-Min Cheng
Journal:  J Hum Genet       Date:  2006-11-01       Impact factor: 3.172

6.  Fibrodysplasia ossificans progressiva in a Malian boy of Bamako.

Authors:  Moussa Traore; Jeannette Traore Thomas; Cheick Oumar Guinto; Mamady Kane; Siona Traore
Journal:  Clin Rheumatol       Date:  2004-12       Impact factor: 2.980

7.  Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

Authors:  Julia Zimmer; Sandra C Doelken; Denise Horn; Jay C Groppe; Eileen M Shore; Frederick S Kaplan; Petra Seemann
Journal:  PLoS One       Date:  2012-04-18       Impact factor: 3.240

8.  The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

Authors:  Ali Al Kaissi; Vladimir Kenis; Maher Ben Ghachem; Jochen Hofstaetter; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  J Clin Med Res       Date:  2016-01-26

9.  Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.

Authors:  Ziba Morovvati; Saeid Morovvati; Gholamhossein Alishiri; Seyed Hossein Moosavi; Reza Ranjbar; Yaser Bolouki Moghaddam
Journal:  Cell J       Date:  2014-02-03       Impact factor: 2.479

Review 10.  Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.

Authors:  Arun-Kumar Kaliya-Perumal; Tom J Carney; Philip W Ingham
Journal:  Dis Model Mech       Date:  2020-09-21       Impact factor: 5.758

  10 in total

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