Literature DB >> 2575670

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.

C Boileau1, C Junien.   

Abstract

Entities:  

Mesh：

Year:  1989        PMID： 2575670      PMCID： PMC1015767          DOI： 10.1136/jmg.26.12.790

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


× No keyword cloud information.
  3 in total

1.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Authors:  B T Darras; P Blattner; J F Harper; A J Spiro; S Alter; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

Review 2.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

3.  Germinal mosaicism in Duchenne muscular dystrophy.

Authors:  S Wood; B C McGillivray
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132
  3 in total
  5 in total

1.  Germinal mosaicism and risk calculation in X-linked diseases.

Authors:  M Jeanpierre
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Authors:  A J van Essen; S Abbs; M Baiget; E Bakker; C Boileau; C van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

4.  A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Authors:  Ying Xu; Yu Li; Tingting Song; Fenfen Guo; Jiao Zheng; Hui Xu; Feng Yan; Lu Cheng; Chunyan Li; Biliang Chen; Jianfang Zhang
Journal:  J Clin Lab Anal       Date:  2018-03-31       Impact factor: 2.352

5.  Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.

Authors:  M Claustres; P Kjellberg; M Desgeorges; H Bellet; J Demaille
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.