Literature DB >> 2810345

Outcome of de novo balanced translocations ascertained prenatally.

D J MacGregor, S Imrie, J L Tolmie.   

Abstract

Mesh：

Year:  1989        PMID： 2810345      PMCID： PMC1015701          DOI： 10.1136/jmg.26.9.590

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


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  6 in total

1.  Prenatal detection of de novo 1; 15 translocation with the same breakpoints as those identified in a previous unrelated case report.

Authors:  M M McCorquodale; S Tayel
Journal:  Prenat Diagn       Date:  1988-07       Impact factor: 3.050

2.  Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

Authors:  P A Jacobs
Journal:  Nature       Date:  1974-05-10       Impact factor: 49.962

3.  Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis.

Authors:  D Warburton
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

4.  Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.

Authors:  I Tierney; D Axworthy; L Smith; S G Ratcliffe
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

5.  Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974.

Authors:  J Nielsen; B Krag-Olsen
Journal:  Clin Genet       Date:  1981-07       Impact factor: 4.438

6.  Mental retardation associated with "balanced" chromosome rearrangements.

Authors:  S J Funderburk; M A Spence; R S Sparkes
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025
  6 in total
  4 in total

1.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  Mosaicism with a normal cell line and an autosomal structural rearrangement.

Authors:  R J Gardner; H E Dockery; P H Fitzgerald; R G Parfitt; D R Romain; N Scobie; R L Shaw; P Tumewu; A J Watt
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

3.  FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Authors:  J A Fantes; E Boland; J Ramsay; D Donnai; M Splitt; J A Goodship; H Stewart; M Whiteford; P Gautier; L Harewood; S Holloway; F Sharkey; E Maher; V van Heyningen; J Clayton-Smith; D R Fitzpatrick; G C M Black
Journal:  Am J Hum Genet       Date:  2008-03-27       Impact factor: 11.025

4.  Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.

Authors:  Kagistia H Utami; Axel M Hillmer; Irene Aksoy; Elaine G Y Chew; Audrey S M Teo; Zhenshui Zhang; Charlie W H Lee; Pauline J Chen; Chan Chee Seng; Pramila N Ariyaratne; Sigrid L Rouam; Lim Seong Soo; Saira Yousoof; Ivan Prokudin; Gregory Peters; Felicity Collins; Meredith Wilson; Alyson Kakakios; Georges Haddad; Arnaud Menuet; Olivier Perche; Stacey Kiat Hong Tay; Ken W K Sung; Xiaoan Ruan; Yijun Ruan; Edison T Liu; Sylvain Briault; Robyn V Jamieson; Sonia Davila; Valere Cacheux
Journal:  PLoS One       Date:  2014-03-06       Impact factor: 3.240
  4 in total

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