Literature DB >> 5098075

Gene deletion and duplication effects on phenotype and gamma globulin levels.

N L Rudd, P H Lamarche.   

Abstract

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Year:  1971        PMID： 5098075      PMCID： PMC1468971          DOI： 10.1136/jmg.8.1.97

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


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  35 in total

1.  Deleted chromosome 18 with paternal mosaicism.

Authors:  E J Day; R Marshall; P A MacDonald; W M Davidson
Journal:  Lancet       Date:  1967-12-16       Impact factor: 79.321

2.  Syndrome associated with a deficiency of part of the long arm of chromosome no. 18.

Authors:  J Insley
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791

3.  Immunodiffusion techniques in clinical medicine. II. Radial immunodiffusion.

Authors:  K Lou; E Shanbrom
Journal:  JAMA       Date:  1967-04-24       Impact factor: 56.272

4.  [Two cases of 18q- syndrome with mosaicism (46,XX / 46,XX, 18q-)].

Authors:  J Lejeune; R Berger; M O Réthoré; J Lafourcade; B Dutrillaux; P Canlorbe; B Labrune
Journal:  Ann Genet       Date:  1967-03

5.  [The partial deletion of the long arm of chromosome 18 (syndrome 18Q-). Report of two cases].

Authors:  M L Destiné; H H Punnett; S Thovichit; A M DiGeorge; L Weiss
Journal:  Ann Genet       Date:  1967-06

6.  [Partial deletion of the long arm of chromosome 18. Individualization of a new morbid state].

Authors:  J Lejeune; R Berger; J Lafourcade; M O Réthoré
Journal:  Ann Genet       Date:  1966

Review 7.  Dermatoglyphics in pediatric practice.

Authors:  J R Miller; J Giroux
Journal:  J Pediatr       Date:  1966-08       Impact factor: 4.406

8.  Partial monosomy of the long arm of an E chromosome--a new syndrome.

Authors:  A Lindsjö; B Hall
Journal:  Hereditas       Date:  1967       Impact factor: 3.271

9.  Trisomy 16-18 in the Bantu.

Authors:  I Freiman; E Wilton
Journal:  S Afr Med J       Date:  1967-06-10

10.  Quantitative immunoglobulin levels (IgG, IgA and IgM) in children, determined by the Hyland Immunoplate technique.

Authors:  C Collins-Williams; B Toft; L Generoso; M Moscarello
Journal:  Can Med Assoc J       Date:  1967-06-10       Impact factor: 8.262
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  8 in total

1.  The cytogenetics of 90 patients with idiopathic mental retardation/malformation syndromes and of 90 normal subjects.

Authors:  C T Doyle
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

Review 2.  Partial monosomies 18. Review of cytogenetical and phenotypical variants.

Authors:  I W Lurie; G I Lazjuk
Journal:  Humangenetik       Date:  1972

3.  Immunoglobulin abnormality in a girl with a large chromosome 18.

Authors:  S Yanagisawa
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

4.  A case of 18q-in a family with a translocation t(6p+;18q-), identified by the Giemsa-banding technique.

Authors:  W L Gouw; L P ten Kate; G J Anders; A Okken
Journal:  Humangenetik       Date:  1973

5.  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

6.  Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

Authors:  R L Neu; C C Ortega; G A Barg; W Pinto; L I Gardner; W M Howell; T E Denton
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

7.  Familial mental retardation in a family with an inherited chromosome rearrangement.

Authors:  A E Chudley; F Bauder; M Ray; P J McAlpine; S D Pena; J L Hamerton
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

8.  Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases.

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975
  8 in total

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