Literature DB >> 24265126

Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance.

Jodi M Jackson1, Charlotte M Druschel, Stuart K Shapira.   

Abstract

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Year:  2013        PMID： 24265126      PMCID： PMC4519034          DOI： 10.1002/bdra.23195

Source DB:  PubMed          Journal:  Birth Defects Res A Clin Mol Teratol        ISSN： 1542-0752


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  39 in total

1.  Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations.

Authors:  M J Parker; J L S Budd; E S Draper; I D Young
Journal:  Prenat Diagn       Date:  2003-10       Impact factor: 3.050

2.  A new trisomic syndrome.

Authors:  J H EDWARDS; D G HARNDEN; A H CAMERON; V M CROSSE; O H WOLFF
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

3.  A case of human intersexuality having a possible XXY sex-determining mechanism.

Authors:  P A JACOBS; J A STRONG
Journal:  Nature       Date:  1959-01-31       Impact factor: 49.962

4.  Chromosome studies on normal and leukemic human leukocytes.

Authors:  P C NOWELL; D A HUNGERFORD
Journal:  J Natl Cancer Inst       Date:  1960-07       Impact factor: 13.506

5.  Multiple congenital anomaly caused by an extra autosome.

Authors:  K PATAU; D W SMITH; E THERMAN; S L INHORN; H P WAGNER
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

6.  [Chromosomic diagnosis of mongolism].

Authors:  J LEJEUNE; R TURPIN; M GAUTIER
Journal:  Arch Fr Pediatr       Date:  1959

7.  Chromosome analysis of human amniotic-fluid cells.

Authors:  M W Steele; W R Breg
Journal:  Lancet       Date:  1966-02-19       Impact factor: 79.321

8.  A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Authors:  Lorenzo D Botto; Kristin May; Paul M Fernhoff; Adolfo Correa; Karlene Coleman; Sonja A Rasmussen; Robert K Merritt; Leslie A O'Leary; Lee-Yang Wong; E Marsha Elixson; William T Mahle; Robert M Campbell
Journal:  Pediatrics       Date:  2003-07       Impact factor: 7.124

9.  Prenatal diagnosis, pregnancy terminations and prevalence of Down syndrome in Atlanta.

Authors:  Csaba Siffel; Adolfo Correa; Janet Cragan; C J Alverson
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2004-09

10.  Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

Authors:  Weimin Bi; Caroline Borgan; Amber N Pursley; Patricia Hixson; Chad A Shaw; Carlos A Bacino; Seema R Lalani; Ankita Patel; Pawel Stankiewicz; James R Lupski; Arthur L Beaudet; Sau Wai Cheung
Journal:  Genet Med       Date:  2012-12-13       Impact factor: 8.822
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