Literature DB >> 4265014

Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family.

R Schmidt, G Mundel, M Rosenblatt, M B Katznelson.   

Abstract

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Year:  1972        PMID: 4265014      PMCID: PMC1469069          DOI: 10.1136/jmg.9.4.457

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


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  15 in total

1.  Ring-G chromosome, a new G-deletion syndrome?

Authors:  R G Weleber; F Hecht; E R Giblett
Journal:  Am J Dis Child       Date:  1968-04

2.  [Familial mosaicism with G ring].

Authors:  R Zdansky; E M Bühler; M Vest; U K Bühler; G Stalder
Journal:  Humangenetik       Date:  1969

3.  [A case with mosaicism of partial monosomy G- monosomy G in peripheral blood lymphocytes].

Authors:  M Bauchinger; E Schmid; E Röttinger
Journal:  Humangenetik       Date:  1968

4.  Monosomy for a G autosome.

Authors:  D N Challacombe; A Taylor
Journal:  Arch Dis Child       Date:  1969-02       Impact factor: 3.791

5.  A patient with 45,XX,Gminus-46,XX,Gr mosaicism.

Authors:  C E Blank; J Lorber
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

6.  Anti-mongolism. Studies in an infant with a partial monosomy of the 21 chromosome.

Authors:  L E Reisman; S Kashara; C Y Chung; A Darnell; B Hall
Journal:  Lancet       Date:  1966-02-19       Impact factor: 79.321

7.  Autoantibodies in Down's syndrome.

Authors:  G R Burgio; F Severi; R Rossoni; R Vaccaro
Journal:  Lancet       Date:  1966-02-26       Impact factor: 79.321

8.  [Multiple malformations in a child with partial monosomy for a 21-22 chromosome].

Authors:  M Broyer; J J Chevrie; J Aicardi; S Thieffry
Journal:  Presse Med       Date:  1966-03-23       Impact factor: 1.228

9.  A child with partial deletion of a G-group autosome.

Authors:  L E Reisman; A Darnell; J W Murphy; B Hall; S Kasahara
Journal:  Am J Dis Child       Date:  1967-09

10.  Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.

Authors:  M S Al-Aish; F De la Cruz; L A Goldsmith; J Volpe; G Mella; J C Robinson
Journal:  N Engl J Med       Date:  1967-10-12       Impact factor: 91.245

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  5 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  A male infant with monosomy 21.

Authors:  Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal:  Humangenetik       Date:  1975-08-29

3.  Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

Authors:  N Sacchi; J Nalbantoglu; F R Sergovich; T S Papas
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  Partial deletion 21: case report with biochemical studies and review.

Authors:  N J Carpenter; J S Mayes; B Say; D P Wilson
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

5.  De novo simultaneous reciprocal translocation and deletion.

Authors:  K Fries; G Mundel; M Rosenblatt
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

  5 in total

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