Literature DB >> 17066298

Paul Polani and the development of medical genetics.

Peter S Harper1.   

Abstract

Paul Polani (1914-2006) was one of the key figures internationally in the beginnings and development of medical genetics. Best remembered scientifically for his highly original work on the basis of human sex chromosome disorders, notably Turner syndrome, he pioneered the application of basic biological research to clinical genetic problems. The unit that he founded in 1960, at Guys Hospital, London, provided an unparalleled model for combined research and service in medical genetics across a wide range of laboratory areas and helped to establish medical genetics as a specific discipline.

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Year:  2007        PMID: 17066298      PMCID: PMC1849973          DOI: 10.1007/s00439-006-0271-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  32 in total

1.  A presumptive human XXY/XX mosaic.

Authors:  C E FORD; P E POLANI; J H BRIGGS; P M BISHOP
Journal:  Nature       Date:  1959-04-11       Impact factor: 49.962

2.  A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

Authors:  C E FORD; K W JONES; P E POLANI; J C DE ALMEIDA; J H BRIGGS
Journal:  Lancet       Date:  1959-04-04       Impact factor: 79.321

3.  Colour vision studies and the x-chromosome constitution of patients with Klinefelter's syndrome.

Authors:  P E POLANI; P M BISHOP; B LENNOX; M A FERGUSON-SMITH; J S STEWART; A PRADER
Journal:  Nature       Date:  1958-10-18       Impact factor: 49.962

4.  Chromosome translocation as a cause of familial mongolism.

Authors:  C O CARTER; J L HAMERTON; P E POLANI; A GUNALP; S D WELLER
Journal:  Lancet       Date:  1960-09-24       Impact factor: 79.321

5.  Factors in the aetiology of atrial septal defect.

Authors:  M CAMPBELL; P E POLANI
Journal:  Br Heart J       Date:  1961-09

6.  [Study of somatic chromosomes from 9 mongoloid children].

Authors:  J LEJEUNE; M GAUTIER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1959-03-16

7.  The neurological sequelae of Rh sensitization.

Authors:  P R EVANS; P E POLANI
Journal:  Q J Med       Date:  1950-04

8.  Maternal environment and the expression of murine neural tube defects.

Authors:  M J Seller; S E Beck; M Adinolfi; P E Polani
Journal:  Prenat Diagn       Date:  1981-04       Impact factor: 3.050

9.  Neural-tube defects and vitamins: the need for a randomized clinical trial.

Authors:  N J Wald; P E Polani
Journal:  Br J Obstet Gynaecol       Date:  1984-06

10.  A test of the production line hypothesis of mammalian oogenesis.

Authors:  P E Polani; J A Crolla
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

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