Literature DB >> 14095841

[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

J LEJEUNE, J LAFOURCADE, R BERGER, J VIALATTE, M BOESWILLWALD, P SERINGE, R TURPIN.   

Abstract

Keywords:  ABNORMALITIES; CHROMOSOME ABNORMALITIES; CRANIOFACIAL DYSOSTOSIS; EAR, EXTERNAL, DEFORMITY; INFANT

Mesh：

Year:  1963        PMID： 14095841

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


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  85 in total

1.  An integrated physical map for the short arm of human chromosome 5.

Authors:  E T Peterson; R Sutherland; D L Robinson; L Chasteen; M Gersh; J Overhauser; L L Deaven; R K Moyzis; D L Grady
Journal:  Genome Res       Date:  1999-12       Impact factor: 9.043

2.  A case of apparent trisomy 21 without the Down's syndrome phenotype.

Authors:  D Avramopoulos; I Kennerknecht; G Barbi; D Eckert; J M Delabar; C Maunoury; A Hallberg; M B Petersen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

3.  A FAMILIAL 4/5 RECIPROCAL TRANSLOCATION RESULTING IN PARTIAL TRISOMY B.

Authors:  M W SHAW; M M COHEN; H M HILDERBRANDT
Journal:  Am J Hum Genet       Date:  1965-01       Impact factor: 11.025

4.  PARTIAL DELETION OF THE SHORT ARMS OF A CHROMOSOME OF THE 4-5 GROUP (DENVER).

Authors:  H V DYGGVE; M MIKKELSEN
Journal:  Arch Dis Child       Date:  1965-02       Impact factor: 3.791

5.  FAMILIAL SHORT ARM DEFICIENCY OF CHROMOSOME 18 CONCOMITANT WITH ARHINENCEPHALY AND ALOPECIA CONGENITA.

Authors:  I A UCHIDA; K N MCRAE; M RAY
Journal:  Am J Hum Genet       Date:  1965-09       Impact factor: 11.025

6.  Apparent monosomy of a G autosome in a Jamaican infant.

Authors:  M J Thorburn; B E Johnson
Journal:  J Med Genet       Date:  1966-12       Impact factor: 6.318

Review 7.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

8.  Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

Authors:  S A Goodart; M G Butler; J Overhauser
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

9.  Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Authors:  Yue Luo; Karen E Hermetz; Jodi M Jackson; Jennifer G Mulle; Anne Dodd; Karen D Tsuchiya; Blake C Ballif; Lisa G Shaffer; Jannine D Cody; David H Ledbetter; Christa L Martin; M Katharine Rudd
Journal:  Hum Mol Genet       Date:  2011-07-04       Impact factor: 6.150

10.  Genetics of somatic mammalian cells: demonstration of a human esterase activator gene linked to the adeB gene.

Authors:  F T Kao; T T Puck
Journal:  Proc Natl Acad Sci U S A       Date:  1972-11       Impact factor: 11.205
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