Literature DB >> 16307191

Bruck syndrome: congenital joint contractures with bone fragility.

Lipalo Mokete1, Anthony Robertson, Denis Viljoen, Peter Beighton.   

Abstract

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Year:  2005        PMID： 16307191     DOI： 10.1007/s00776-005-0958-9

Source DB:  PubMed          Journal:  J Orthop Sci        ISSN： 0949-2658            Impact factor:   1.601


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  7 in total

1.  Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

Authors:  Kavinda Dayasiri; Heshan Jayaweera
Journal:  J Med Case Rep       Date:  2022-10-19

2.  Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Authors:  Ulrike Schwarze; Tim Cundy; Shawna M Pyott; Helena E Christiansen; Madhuri R Hegde; Ruud A Bank; Gerard Pals; Arunkanth Ankala; Karen Conneely; Laurie Seaver; Suzanne M Yandow; Ellen Raney; Dusica Babovic-Vuksanovic; Joan Stoler; Ziva Ben-Neriah; Reeval Segel; Sari Lieberman; Liesbeth Siderius; Aida Al-Aqeel; Mark Hannibal; Louanne Hudgins; Elizabeth McPherson; Michele Clemens; Michael D Sussman; Robert D Steiner; John Mahan; Rosemarie Smith; Kwame Anyane-Yeboa; Julia Wynn; Karen Chong; Tami Uster; Salim Aftimos; V Reid Sutton; Elaine C Davis; Lammy S Kim; Mary Ann Weis; David Eyre; Peter H Byers
Journal:  Hum Mol Genet       Date:  2012-09-04       Impact factor: 6.150

3.  Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Authors:  Brian P Kelley; Fransiska Malfait; Luisa Bonafe; Dustin Baldridge; Erica Homan; Sofie Symoens; Andy Willaert; Nursel Elcioglu; Lionel Van Maldergem; Christine Verellen-Dumoulin; Yves Gillerot; Dobrawa Napierala; Deborah Krakow; Peter Beighton; Andrea Superti-Furga; Anne De Paepe; Brendan Lee
Journal:  J Bone Miner Res       Date:  2011-03       Impact factor: 6.741

4.  Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

Authors:  Peiran Zhou; Yi Liu; Fang Lv; Min Nie; Yan Jiang; Ou Wang; Weibo Xia; Xiaoping Xing; Mei Li
Journal:  PLoS One       Date:  2014-09-19       Impact factor: 3.240

5.  A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability.

Authors:  Lindsey Luce; Michael Casale; Sean Waldron
Journal:  Ochsner J       Date:  2020

6.  Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

Authors:  M Chetty; T Roberts; S Shaik; P Beighton
Journal:  BDJ Open       Date:  2019-04-11

7.  Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.

Authors:  Carla M Kaneto; Patrícia S P Lima; Dalila Lucíola Zanette; Thiago Yukio Kikuchi Oliveira; Francisco de Assis Pereira; Julio Cesar Cetrulo Lorenzi; Jane Lima Dos Santos; Karen L Prata; João M Pina Neto; Francisco J A de Paula; Wilson A Silva
Journal:  BMC Med Genet       Date:  2016-05-04       Impact factor: 2.103
  7 in total

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