Literature DB >> 6453821

Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.

J F Mattei, M G Mattei, M A Baeteman, F Giraud.   

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Year:  1981        PMID： 6453821     DOI： 10.1007/bf00274703

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  9 in total

1.  Normal phenotype and partial trisomy for the G positive region of chromosome 21.

Authors:  A Daniel
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

2.  [Partial trisomy 21].

Authors:  J F Mattéi; M G Mattéi; J P Ardissone; J P Charvet; W Chiaramello; F Giraud
Journal:  Arch Fr Pediatr       Date:  1979-04

3.  [Partial trisomy 21 (21q21 - 21q22.2)].

Authors:  M Poissonnier; B Saint-Paul; B Dutrillaux; M Chassaigne; P Gruyer; G de Blignières-Strouk
Journal:  Ann Genet       Date:  1976-03

4.  [Partial trisomy 13 due to maternal translocation t(2;13)].

Authors:  F Giraud; J F Mattei; M G Mattei
Journal:  Ann Genet       Date:  1977-09

5.  A radioimmunoassay for copper containing superoxide dimutase.

Authors:  A Baret; P Michel; M R Imbert; J L Morcellet; A M Michelson
Journal:  Biochem Biophys Res Commun       Date:  1979-05-28       Impact factor: 3.575

6.  [Increase of erythrocyte superoxide dismutase activity in trisomy for chromosome 21].

Authors:  P M Sinet; D Allard; J Lejeune; H Jérôme
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1974-06-17

7.  [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

Authors:  P M Sinet; J Couturier; B Dutrillaux; M Poissonnier; O Raoul; M O Rethore; D Allard; J Lejeune; H Jerome
Journal:  Exp Cell Res       Date:  1976-01       Impact factor: 3.905

8.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

9.  A case of 21q--syndrome with normal SOD-1 activity.

Authors:  Y Yamamoto; N Ogasawara; A Gotoh; H Komiya; H Nakai; Y Kuroki
Journal:  Hum Genet       Date:  1979-05-10       Impact factor: 4.132
  9 in total
  14 in total

1.  Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Authors:  Z Rahmani; J L Blouin; N Creau-Goldberg; P C Watkins; J F Mattei; M Poissonnier; M Prieur; Z Chettouh; A Nicole; A Aurias
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

2.  Overexpression of copper-zinc superoxide dismutase in trisomy 21.

Authors:  R De La Torre; A Casado; E López-Fernández; D Carrascosa; V Ramírez; J Sáez
Journal:  Experientia       Date:  1996-09-15

3.  Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

Authors:  J M Delabar; P M Sinet; B Chadefaux; A Nicole; A Gegonne; D Stehelin; F Fridlansky; N Créau-Goldberg; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

4.  Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Authors:  M L Van Keuren; P C Watkins; H A Drabkin; E W Jabs; J F Gusella; D Patterson
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

5.  Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody.

Authors:  M Van Keuren; H Drabkin; I Hart; D Harker; D Patterson; S Vora
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

6.  Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Authors:  M C Pellissier; M Laffage; N Philip; E Passage; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1988-11       Impact factor: 4.132

7.  Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

Authors:  N Philip; M A Baeteman; M G Mattei; J F Mattei
Journal:  Eur J Pediatr       Date:  1984-04       Impact factor: 3.183

8.  Prenatal detection of an unstable ring 21 chromosome.

Authors:  G Stetten; B Sroka; V L Corson; C D Boehm
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 9.  Molecular genetics of human chromosome 21.

Authors:  P C Watkins; R E Tanzi; S V Cheng; J F Gusella
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

10.  Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality.

Authors:  J L Huret; J M Delabar; F Marlhens; A Aurias; A Nicole; M Berthier; J Tanzer; P M Sinet
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132
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