Literature DB >> 14260664

[PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

J LEJEUNE, R BERGER, M O RETHORE, L ARCHAMBAULT, H JEROME, S THIEFFRY, J AICARDI, M BROYER, J LAFOURCADE, J CRUVEILLER, R TURPIN.   

Abstract

Keywords:  ABNORMALITIES; CHROMOSOME ABNORMALITIES; DERMATOGLYPHICS; GENETICS, HUMAN; INFANT, NEWBORN; MOSAICISM; TRISOMY

Mesh:

Year:  1964        PMID: 14260664

Source DB:  PubMed          Journal:  C R Hebd Seances Acad Sci        ISSN: 0001-4036


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  44 in total

1.  Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.

Authors:  U Francke; C Kernahan; C Bradshaw
Journal:  Humangenetik       Date:  1975

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.  Familial Ebstein's anomaly.

Authors:  A Rosenmann; I Arad; A Simcha; T Schaap
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

4.  A case of ring chromosome.

Authors:  D S Brookfield; S Walker
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

5.  Long time no see: the Type and Contre-type concept.

Authors:  Giovanni Neri; Francesca Romana Di Raimo
Journal:  Eur J Hum Genet       Date:  2009-10-21       Impact factor: 4.246

6.  Full monosomy 21: a clinically recognizable syndrome?

Authors:  J P Fryns; F D'Hondt; P Goddeeris; H van den Berghe
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

7.  Long arm deletion of chromosome 22.

Authors:  G Kirshenbaum; M Chmura; D P Rhone
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

8.  Mental retardation, unusual facies, and abnormal nails associated with a group-G ring chromosome. A case report on two unrelated cases.

Authors:  V Dubowitz; P Cooke; D Colver; F Harris
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

9.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

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

Authors:  R Schmidt; G Mundel; M Rosenblatt; M B Katznelson
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

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