(Q40955786)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Reet Kurg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

F Abou-Zahr

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

B Bejjani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

C Bacino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

S K Shapira

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

H Youssoufian

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

1 reference

1 April 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

388-391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Multiple intracranial aneurysms in a patient with Seckel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Acute myeloid leukaemia in a patient with Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Evidence for at least eight Fanconi anemia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Seckel syndrome in a Yemeni family in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Positional cloning of the Fanconi anaemia group A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

Complementation groups: one or more per gene?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

dic(5;17): a recurring abnormality in malignant myeloid disorders associated with mutations of TP53

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990423%2983%3A5%3C388%3A%3AAID-AJMG9%3E3.0.CO%3B2-1

10.1002/(SICI)1096-8628(19990423)83:5<388::AID-AJMG9>3.0.CO;2-1

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10232749%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference