Literature DB >> 24776605

Gnathodiaphyseal dysplasia.

T E Herman1, M J Siegel1, K Sargar1.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 24776605     DOI： 10.1038/jp.2013.178

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


× No keyword cloud information.
  11 in total

1.  Gnathodiaphyseal dysplasia.

Authors:  Jaspal Ahluwalia; Justin Q Ly; Emily Norman; Richard F Costello; Douglas P Beall
Journal:  Clin Imaging       Date:  2007 Jan-Feb       Impact factor: 1.605

2.  Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.

Authors:  B Tüysüz; A Bursalı; Z Alp; N Suyugül; C M Laine; O Mäkitie
Journal:  Horm Res Paediatr       Date:  2012-03-23       Impact factor: 2.852

Review 3.  Fibrous lesions of bones.

Authors:  R Kumar; J E Madewell; M M Lindell; L E Swischuk
Journal:  Radiographics       Date:  1990-03       Impact factor: 5.333

4.  Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Authors:  Russia Ha-Vinh; Yasemin Alanay; Ruud A Bank; Ana Belinda Campos-Xavier; Andreas Zankl; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Med Genet A       Date:  2004-12-01       Impact factor: 2.802

5.  Cherubism: a clinical, radiographic, and histopathologic comparison of 7 cases.

Authors:  Miguel Peñarrocha; Jaime Bonet; Juan Manuel Mínguez; José Vicente Bagán; Francisco Vera; Ignacio Mínguez
Journal:  J Oral Maxillofac Surg       Date:  2006-06       Impact factor: 1.895

6.  Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1.

Authors:  Satoshi Tsutsumi; Nobuyuki Kamata; Yutaka Maruoka; Miki Ando; Osamu Tezuka; Shoji Enomoto; Ken Omura; Masaru Nagayama; Eiji Kudo; Maki Moritani; Takashi Yamaoka; Mitsuo Itakura
Journal:  J Bone Miner Res       Date:  2003-03       Impact factor: 6.741

7.  Recurring gnathodiaphyseal dysplasia in two Russian brothers.

Authors:  V V Roginsky; A L Ivanov; R H Khonsari
Journal:  Int J Oral Maxillofac Surg       Date:  2009-12-11       Impact factor: 2.789

Review 8.  Calvarial doughnut lesions and osteoporosis: a new three-generation family and review.

Authors:  E Jaakkola; C M Laine; M K Mäyränpää; A Falck; J Ignatius; O Mäkitie
Journal:  Am J Med Genet A       Date:  2009-11       Impact factor: 2.802

9.  The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).

Authors:  Satoshi Tsutsumi; Nobuyuki Kamata; Tamara J Vokes; Yutaka Maruoka; Koichi Nakakuki; Shoji Enomoto; Ken Omura; Teruo Amagasa; Masaru Nagayama; Fumiko Saito-Ohara; Johji Inazawa; Maki Moritani; Takashi Yamaoka; Hiroshi Inoue; Mitsuo Itakura
Journal:  Am J Hum Genet       Date:  2004-04-29       Impact factor: 11.025

10.  Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.

Authors:  M Riminucci; M T Collins; A Corsi; A Boyde; M D Murphey; S Wientroub; S A Kuznetsov; N Cherman; P G Robey; P Bianco
Journal:  J Bone Miner Res       Date:  2001-09       Impact factor: 6.741
View more
  2 in total

1.  Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Authors:  Ghada A Otaify; Michael P Whyte; Gary S Gottesman; William H McAlister; J Eric Gordon; Abby Hollander; Marisa V Andrews; Samir K El-Mofty; Wei-Shen Chen; Deborah V Veis; Marina Stolina; Albert S Woo; Panagiotis Katsonis; Olivier Lichtarge; Fan Zhang; Marwan Shinawi
Journal:  Bone       Date:  2017-11-21       Impact factor: 4.398

2.  Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

Authors:  Hannah A Duong; Karen T Le; Albert L Soulema; Ronald H Yueh; Maren T Scheuner; Michael F Holick; Russell Christensen; Tracey L Tajima; Angela M Leung; Sanjay M Mallya
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2016-01-28
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.