Literature DB >> 7163285

Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects.

G Camera, P Mastroiacovo.   

Abstract

Entities:  

Mesh：

Year:  1982        PMID： 7163285

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  10 in total

1.  A case of achondrogenesis type I.

Authors:  I Bökesoy; E Aydin; S Gazilerli
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

Authors:  S M Pulst; J M Graham; P Fain; D Barker; T Pribyl; J R Korenberg
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

Review 3.  Osteochondral diseases and fibrodysplasia ossificans progressiva.

Authors:  Antonio Morales-Piga; Frederick S Kaplan
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

Review 4.  COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Authors:  Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs
Journal:  Eur J Hum Genet       Date:  2005-05       Impact factor: 4.246

5.  2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.

Authors:  A Vimercati; A Chincoli; A C de Gennaro; V DʼAddario; E Cicinelli
Journal:  Geburtshilfe Frauenheilkd       Date:  2016-07       Impact factor: 2.915

6.  Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Authors:  C Kwok; P A Weller; S Guioli; J W Foster; S Mansour; O Zuffardi; H H Punnett; M A Dominguez-Steglich; J D Brook; I D Young
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

7.  Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports.

Authors:  Mehmet Sah İpek; Cihan Akgul Ozmen
Journal:  Medicine (Baltimore)       Date:  2016-04       Impact factor: 1.889

8.  Fetal dose conversion factor for fetal computed tomography examinations: A mathematical phantom study.

Authors:  Yuta Matsunaga; Ai Kawaguchi; Masanao Kobayashi; Shoichi Suzuki; Yasuki Asada; Kiyoshi Ito; Koichi Chida
Journal:  J Appl Clin Med Phys       Date:  2017-08-11       Impact factor: 2.102

9.  Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Authors:  Shinichi Nagaoka; Yumi Yamaguchi-Kabata; Naomi Shiga; Masahito Tachibana; Jun Yasuda; Shu Tadaka; Gen Tamiya; Nobuo Fuse; Kengo Kinoshita; Shigeo Kure; Jun Murotsuki; Masayuki Yamamoto; Nobuo Yaegashi; Junichi Sugawara
Journal:  Hum Genome Var       Date:  2021-01-15

10.  Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.

Authors:  Ching-Yuan Wang; Yen-An Tang; I-Wen Lee; Fong-Ming Chang; Chun-Wei Chien; Hsien-An Pan; H Sunny Sun
Journal:  BMC Med Genomics       Date:  2021-11-17       Impact factor: 3.063
  10 in total

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