Literature DB >> 6873945

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

P Franceschini, M Cirillo Silengo, G Davi, R Bianco, M Biagioli.   

Abstract

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Year:  1983        PMID： 6873945     DOI： 10.1007/bf00289489

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


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  8 in total

1.  Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase.

Authors:  B Dallapiccola; G Novelli; A Giannotti
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

2.  Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors:  P E Lundbech; T Thøgersen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

3.  Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

Authors:  I A Glass; C A Swindlehurst; D A Aitken; W McCrea; E Boyd
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

4.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

5.  Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

Authors:  Louise Gallagher; Kristin Becker; Geraldine Kearney; Adam Dunlop; Ray Stallings; Andrew Green; Michael Fitzgerald; Michael Gill
Journal:  J Autism Dev Disord       Date:  2003-02

6.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240

7.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 8.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367
  8 in total

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