(Q52045065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

8

1 reference

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30 December 2019

Roberto Giorda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Maria Clara Bonaglia

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Tiziano Pramparo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Salvatore Grosso

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jole Messa

3

1 reference

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30 December 2019

Adriana Zatterale

4

1 reference

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30 December 2019

Luciana Chessa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Paolo Balestri

7

1 reference

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30 December 2019

Orsetta Zuffardi

9

1 reference

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30 December 2019

publication date

28 October 2005

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16001262%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

1

1 reference

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30 December 2019

page(s)

76-81

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-005-0004-1

30 December 2019

exact match

0 references

cites work

Mouse Af9 is a controller of embryo patterning, like Mll, whose human homologue fuses with Af9 after chromosomal translocation in leukemia

1 reference

12 December 2020

Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening

1 reference

12 December 2020

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

1 reference

12 December 2020

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome

1 reference

12 December 2020

The fat-like gene of Drosophila is the true orthologue of vertebrate fat cadherins and is involved in the formation of tubular organs.

1 reference

12 December 2020

Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation

1 reference

12 December 2020

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

1 reference

12 December 2020

MEGF1/fat2 proteins containing extraordinarily large extracellular domains are localized to thin parallel fibers of cerebellar granule cells

1 reference

12 December 2020

DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis

1 reference

12 December 2020

Mammalian fat3: a large protein that contains multiple cadherin and EGF-like motifs

1 reference

12 December 2020

The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily

1 reference

12 December 2020

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

1 reference

12 December 2020

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

12 December 2020

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

12 December 2020

Conjunction dysfunction: CBP/p300 in human disease.

1 reference

12 December 2020

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

12 December 2020

Craniosynostosis syndromes: from genes to premature fusion of skull bones

1 reference

12 December 2020

Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype.

1 reference

12 December 2020