Literature DB >> 12205110

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.

C M Hall, N H Elcioglu, K D MacDermot, A C Offiah, R M Winter.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 12205110      PMCID： PMC1735246          DOI： 10.1136/jmg.39.9.666

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


× No keyword cloud information.
  6 in total

1.  Parathyroid hormone-induced down-regulation of miR-532-5p for matrix metalloproteinase-13 expression in rat osteoblasts.

Authors:  Vishal Mohanakrishnan; Arumugam Balasubramanian; Gokulnath Mahalingam; Nicola Chennell Partridge; Ilangovan Ramachandran; Nagarajan Selvamurugan
Journal:  J Cell Biochem       Date:  2018-04-06       Impact factor: 4.429

2.  Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

Authors:  Beyhan Tüysüz; Saliha Yılmaz; Tuğba Erener-Ercan; Kaya Bilguvar; Murat Günel
Journal:  Pediatr Radiol       Date:  2014-09-26

3.  Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Authors:  Byung-Joo Min; Namshin Kim; Taesu Chung; Ok-Hwa Kim; Gen Nishimura; Chin Youb Chung; Hae Ryong Song; Hyun Woo Kim; Hye Ran Lee; Jiwoong Kim; Tae-Hoon Kang; Myung-Eui Seo; San-Deok Yang; Do-Hwan Kim; Seung-Bok Lee; Jong-Il Kim; Jeong-Sun Seo; Ji-Yeob Choi; Daehee Kang; Dongsup Kim; Woong-Yang Park; Tae-Joon Cho
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

4.  Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Authors:  Eric D Boyden; A Belinda Campos-Xavier; Sebastian Kalamajski; Trevor L Cameron; Philippe Suarez; Goranka Tanackovic; Goranka Tanackovich; Generoso Andria; Diana Ballhausen; Michael D Briggs; Claire Hartley; Daniel H Cohn; H Rosemarie Davidson; Christine Hall; Shiro Ikegawa; Pierre-Simon Jouk; Rainer König; André Megarbané; Gen Nishimura; Ralph S Lachman; Geert Mortier; David L Rimoin; R Curtis Rogers; Massimiliano Rossi; Hirotake Sawada; Richard Scott; Sheila Unger; Eugenia Ribeiro Valadares; John F Bateman; Matthew L Warman; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

5.  A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

Authors:  Wagner A R Baratela; Michael B Bober; George E Tiller; Ericka Okenfuss; Colleen Ditro; Angela Duker; Deborah Krakow; Deborah L Stabley; Katia Sol-Church; William Mackenzie; Ralph Lachman; Charles I Scott
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

6.  A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Authors:  Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; Andrea Superti-Furga; Sheila Unger
Journal:  Skeletal Radiol       Date:  2009-03-11       Impact factor: 2.199
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.