(Q41546623)

3 October 2017

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B (English)

1 reference

1 September 2023

main subject

human chromosomes 4-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

chromosomal translocation

1 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

1 reference

1 September 2023

author name string

P. Balestrazzi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

M. A. Baeteman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

M. G. Mattei

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

J. F. Mattei

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6224737

1 September 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6224737

1 September 2023

publication date

1 January 1983

1 reference

full work available at URL

3 October 2017

http://link.springer.com/content/pdf/10.1007/BF00279420.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00279420/fulltext.html

1 September 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00279420

1 September 2023

1 reference

1 September 2023

1 reference

3 October 2017

64

1 reference

3 October 2017

305-308

1 reference

3 October 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00279420

3 October 2017

0 references

cites work

Major rearrangement in the human β-globin gene cluster

1 reference

12 December 2020

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

1 reference

12 December 2020

Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome

1 reference

12 December 2020

The role of position in determining homoeotic gene function in Drosophila.

1 reference

12 December 2020

Are balanced translocations really balanced? Preliminary cytogenetic evidence for position effect in man

1 reference

12 December 2020

Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father

1 reference

12 December 2020

Evidence for a Null allele at the Esterase D (EC 3.1.1.1) locus

1 reference

12 December 2020

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

1 reference

12 December 2020

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

12 December 2020

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

1 reference

12 December 2020

X-autosome translocations: a review

1 reference

12 December 2020

Mental retardation associated with "balanced" chromosome rearrangements

1 reference

12 December 2020

Systematic analysis of 95 reciprocal translocations of autosomes

1 reference

12 December 2020

Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases

1 reference

12 December 2020

Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma

1 reference

12 December 2020

Incidence of chromosome abnormalities in newborn children. Comparison between incidences in 1969?1974 and 1980?1982 in the same area

1 reference

12 December 2020

16

11

155

AT Tharapel

1977

1 reference

1 September 2023

Identifiers

DOI

10.1007/BF00279420

1 reference

Dimensions Publication ID

3 October 2017

0 references

1 reference