Literature DB >> 5713650

An extra small metacentric chromosome in a mentally retarded boy.

J Ishmael, K M Laurence.   

Abstract

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Year:  1968        PMID： 5713650      PMCID： PMC1468659          DOI： 10.1136/jmg.5.4.335

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


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  43 in total

1.  TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.

Authors:  W W WEBER; P MAMUNES; R DAY; P MILLER
Journal:  Pediatrics       Date:  1964-10       Impact factor: 7.124

2.  THE TRISOMY 18 SYNDROME.

Authors:  M B OZONOFF; H L STEINBACH; P MAMUNES
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1964-03

3.  CLINICAL TRISOMY E SYNDROME (16-18): A CYTOGENETIC ENIGMA.

Authors:  J L BURKS; S SINKFORD
Journal:  Clin Pediatr (Phila)       Date:  1964-04       Impact factor: 1.168

4.  PHOCOMELIA AND TRISOMY E.

Authors:  H ZELLWEGER; D S HUFF; G ABBO
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1965-04

5.  Trisomy-17 syndrome. Report of three cases and review of the literature.

Authors:  M I GOTTLIEB; K HIRSCHHORN; H L COOPER; N LUSSKIN; R E MOLOSHOK; H L HODES
Journal:  Am J Med       Date:  1962-11       Impact factor: 4.965

6.  The 18-trisomy syndrome-a spectrum?

Authors:  E H HEINRICHS; S W ALLEN
Journal:  Clin Pediatr (Phila)       Date:  1963-01       Impact factor: 1.168

7.  The 16-18 trisomy syndrome.

Authors:  J B STEINBERG; J F JACKSON
Journal:  Am J Dis Child       Date:  1963-02

8.  A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome.

Authors:  D W SMITH; K PATAU; E THERMAN; S L INHORN
Journal:  J Pediatr       Date:  1960-09       Impact factor: 4.406

9.  Multiple congenital anomaly associated with an extra autosome.

Authors:  M D CRAWFURD
Journal:  Lancet       Date:  1961-07-01       Impact factor: 79.321

10.  A familial centric chromosome fragment.

Authors:  K D Smith; E Steinberger; S Steinberger; W H Perloff
Journal:  Cytogenetics       Date:  1965
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  7 in total

1.  An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome.

Authors:  I Subrt; H Prchlíková
Journal:  J Med Genet       Date:  1970-12       Impact factor: 6.318

2.  Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.

Authors:  H Müller; E M Bühler; E Signer; F Egli; G R Stalder
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

3.  An extra small metacentric autosome in a mentally retarded boy with multiple malformations.

Authors:  S Armendares; L Buentello; F Salamanca
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

4.  Father and son with karyotype 47,XY,?Yq-.

Authors:  J Nielsen; U Friedrich; T Tsuboi; A Dalby
Journal:  Humangenetik       Date:  1971

5.  Familial occurrence of a small, supernumerary metacentric chromosome in phenotypically normal women.

Authors:  M A Ridler; J M Berg; M J Pendrey; P Saldaña; J A Timothy
Journal:  J Med Genet       Date:  1970-06       Impact factor: 6.318

6.  Significance of detection of extra metacentric microchromosome in amniotic cell culture.

Authors:  R Bernstein; C Hakim; B Hardwick; G T Nurse
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

7.  Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Authors:  K B Nielsen; H Dyggve; U Friedrich; N Hobolth; T Lyngbye; M Mikkelsen
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132
  7 in total

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