Literature DB >> 231930

Prenatal diagnosis of human genome variation.

D M Kurnit, H Hoehn.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1979        PMID： 231930     DOI： 10.1146/annurev.ge.13.120179.001315

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


× No keyword cloud information.
  13 in total

1.  Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.

Authors:  J M Old; C Heath; A Fitches; S L Thein; A J Jeffreys; M Petrou; B Modell; D J Weatherall
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

2.  Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val----Met mutation most common to the disease.

Authors:  K Yoshioka; H Furuya; H Sasaki; M J Saraiva; P P Costa; Y Sakaki
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

3.  Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

Authors:  C Camaschella; A Serra; G Saglio; M T Bertero; U Mazza; S Terzoli; B Brambati; L Cremonesi; M Travi; M Ferrari
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

4.  Nonuniform recombination within the human beta-globin gene cluster.

Authors:  A Chakravarti; K H Buetow; S E Antonarakis; P G Waber; C D Boehm; H H Kazazian
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

5.  A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

Authors:  M C Driscoll; M Baird; A Bank; E A Rachmilewitz
Journal:  J Clin Invest       Date:  1981-10       Impact factor: 14.808

6.  Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Authors:  S E Antonarakis; C D Boehm; P J Giardina; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1982-01       Impact factor: 11.205

7.  Genetic and molecular analysis of familial isolated growth hormone deficiency.

Authors:  R Ruiz-Pacheco; P Chatelain; P C Sizonenko; M Bost; P Garandau; C Sultan
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

8.  Population heterogeneity of the Hpa I restriction site associated with the beta globin gene: implications for prenatal diagnosis.

Authors:  S R Panny; A F Scott; K D Smith; J A Phillips; H H Kazazian; C C Talbot; C D Boehm
Journal:  Am J Hum Genet       Date:  1981-01       Impact factor: 11.025

9.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

10.  Genetic analysis of familial isolated growth hormone deficiency type I.

Authors:  J A Phillips; J S Parks; B L Hjelle; J E Herd; L P Plotnick; C J Migeon; P H Seeburg
Journal:  J Clin Invest       Date:  1982-09       Impact factor: 14.808
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.