Literature DB >> 5501707

D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.

A R Biles, T Lüers, K Sperling.   

Abstract

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Mesh：

Year:  1970        PMID： 5501707      PMCID： PMC1468962          DOI： 10.1136/jmg.7.4.399

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


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  14 in total

1.  Ring chromosomes in human beings.

Authors:  H C WANG; J MELNYK; L T McDONALD; I A UCHIDA; D H CARR; B GOLDBERG
Journal:  Nature       Date:  1962-08-18       Impact factor: 49.962

2.  Multiple congenital abnormalities associated with ring chromosome.

Authors:  A D BAIN; I K GAULD
Journal:  Lancet       Date:  1963-08-10       Impact factor: 79.321

3.  [Study of a ring-shaped human chromosome].

Authors:  S Gilgenkrantz; A Peters; F Streiff
Journal:  C R Seances Soc Biol Fil       Date:  1967

4.  [The Dr phenotype: a study of threee cases with a ring D chromosome].

Authors:  J Lejeune; J Lafourcade; R Berger; J Cruveiller; M O Rethoré; B Dutrillaux; D Abonyi; H Jérôme
Journal:  Ann Genet       Date:  1968-06

5.  [On the duplication of circular structures].

Authors:  J Lejeune
Journal:  Ann Genet       Date:  1968-06

6.  A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

Authors:  M Mikkelsen; E Niebuhr
Journal:  Ann Genet       Date:  1969-03

7.  A human ring D chromosome associated with multiple congenital abnormalities.

Authors:  R L Teplitz; D Miller; K M Hansson; T S Rundall
Journal:  J Pediatr       Date:  1967-06       Impact factor: 4.406

8.  Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Authors:  R S Sparkes; R E Carrel; S W Wright
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025

9.  A ring D chromosome and anomalous inheritance of haptoglobin type.

Authors:  P S Gerald; S Warner; J D Singer; P A Corcoran; I Umansky
Journal:  J Pediatr       Date:  1967-02       Impact factor: 4.406

10.  Ring D chromosome: a second case associated with anomalous haptoglobin inheritance.

Authors:  G E Bloom; P S Gerald; L E Reisman
Journal:  Science       Date:  1967-06-30       Impact factor: 47.728
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  5 in total

Review 1.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

2.  D13 ring chromosome syndrome.

Authors:  A Mccandless; S Walker
Journal:  Arch Dis Child       Date:  1976-06       Impact factor: 3.791

Review 3.  Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes.

Authors:  Mathew J Thayer
Journal:  Bioessays       Date:  2012-06-18       Impact factor: 4.345

4.  The ring chromosome 13 syndrome.

Authors:  N J Martin; P J Harvey; J H Pearn
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318
  5 in total

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