Literature DB >> 4276065

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

E Niebuhr.   

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Year:  1974        PMID： 4276065     DOI： 10.1007/bf00278575

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  9 in total

1.  RECIPROCAL TRANSLOCATION AND MOSAICISM IN A MONGOL.

Authors:  B W RICHARDS; A STEWART; P E SYLVESTER
Journal:  J Ment Defic Res       Date:  1965-06

2.  An unusual translocation in a case of Mongolism.

Authors:  H ZELLWEGER; K MIKAMO; G ABBO
Journal:  J Pediatr       Date:  1963-02       Impact factor: 4.406

3.  A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism).

Authors:  J WARKANY; S W SOUKUP
Journal:  J Pediatr       Date:  1963-06       Impact factor: 4.406

4.  Down's syndrome associated with a familial (21q-; 22q+) translocation.

Authors:  M M Cohen; R G Davidson
Journal:  Cytogenetics       Date:  1967

5.  [Two subterminal heterochromatin regions in a rare form of 21-21 translocation].

Authors:  M Bartsch-Sandhoff; H Schade
Journal:  Humangenetik       Date:  1973

6.  Identification of G-group chromosomes involved in a G-G tandem-translocation by the giemsa-band technique.

Authors:  W Vogel
Journal:  Humangenetik       Date:  1972

7.  Fluorescent chromosomes of a tandem translocation in a mongol patient.

Authors:  S Sachdeva; J Wodnicki; G F Smith
Journal:  J Ment Defic Res       Date:  1971-09

8.  Down's Syndrome with translocation-en-tandem: a report of two unrelated cases.

Authors:  O M Garson; A G Baikie; D B Pitt; N M Newman
Journal:  Aust Paediatr J       Date:  1970-03

9.  [A case of G-G translocation in tandem].

Authors:  J Lejeune; R Berger; O R Vidal; M O Réthoré
Journal:  Ann Genet       Date:  1965
  9 in total
  52 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.  Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

Authors:  R A Pagon; J G Hall; S L Davenport; J Aase; T H Norwood; H W Hoehn
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

3.  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

4.  Down syndrome: gene dosage at the transcriptional level in skin fibroblasts.

Authors:  D M Kurnit
Journal:  Proc Natl Acad Sci U S A       Date:  1979-05       Impact factor: 11.205

5.  Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22.

Authors:  J Kedziora; D Rozynkowa; M Kopff; J Jeske
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

6.  Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17.

Authors:  S V Cheng; J H Nadeau; R E Tanzi; P C Watkins; J Jagadesh; B A Taylor; J L Haines; N Sacchi; J F Gusella
Journal:  Proc Natl Acad Sci U S A       Date:  1988-08       Impact factor: 11.205

7.  Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.

Authors:  A M Migliorini; R Coco; T C De Negrotti; J M Sanchez; G Castineyra
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

8.  Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.

Authors:  L Sherman; N Dafni; J Lieman-Hurwitz; Y Groner
Journal:  Proc Natl Acad Sci U S A       Date:  1983-09       Impact factor: 11.205

9.  18p--syndrome resulting from 14q/18q 'dicentric' fusion translocation.

Authors:  S J Funderburk; R S Sparkes; I Klisak
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

10.  Down syndrome phenotypes: the consequences of chromosomal imbalance.

Authors:  J R Korenberg; X N Chen; R Schipper; Z Sun; R Gonsky; S Gerwehr; N Carpenter; C Daumer; P Dignan; C Disteche
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205
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