(Q30472505)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions (English)

1 reference

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8 February 2020

1 reference

12

1 reference

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8 February 2020

Maria Clara Bonaglia

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Francesca Novara

3

1 reference

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8 February 2020

Renato Borgatti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Roberto Giorda

13

1 reference

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8 February 2020

Orsetta Zuffardi

15

1 reference

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8 February 2020

author name string

Susan Marelli

2

1 reference

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8 February 2020

Simona Commodaro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Grazia Minardo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Luigi Memo

7

1 reference

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8 February 2020

Elisabeth Mangold

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Silvana Beri

9

1 reference

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8 February 2020

Claudio Zucca

10

1 reference

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8 February 2020

Daniele Brambilla

11

1 reference

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8 February 2020

Ruthild G Weber

14

1 reference

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8 February 2020

publication date

21 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

8 February 2020

published in

1 reference

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8 February 2020

volume

18

1 reference

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8 February 2020

issue

12

1 reference

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8 February 2020

page(s)

1302-1309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Nuclear factor I X deficiency causes brain malformation and severe skeletal defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

A comprehensive analysis of common copy-number variations in the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Binding of internalized receptors to the PDZ domain of GIPC/synectin recruits myosin VI to endocytic vesicles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Prostaglandin E receptor EP1 controls impulsive behavior under stress.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Myo6 facilitates the translocation of endocytic vesicles from cell peripheries

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

The structure and function of PKN, a protein kinase having a catalytic domain homologous to that of PKC.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

A developmental switch in the signaling cascades for LTP induction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

The calcium-independent receptor for alpha-latrotoxin from human and rodent brains interacts with members of the ProSAP/SSTRIP/Shank family of multidomain proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Cri du chat syndrome: changing phenotype in older patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Selective regulation of arterial branching morphogenesis by synectin

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002847

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20648052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical Experience With Impedance Audiometry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20648052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20648052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648052%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

20648052

1 reference