Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. (Q36718988)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18252217%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus (English)

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2 January 2020

1 reference

8

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2 January 2020

author name string

David W Craig

1

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2 January 2020

Abraham Itty

2

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2 January 2020

Corrie Panganiban

3

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2 January 2020

Szabolcs Szelinger

4

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2 January 2020

Michael C Kruer

5

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2 January 2020

Aswin Sekar

6

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2 January 2020

David Reiman

7

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2 January 2020

Dietrich A Stephan

9

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2 January 2020

John F Kerrigan

10

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2 January 2020

language of work or name

English

0 references

publication date

31 January 2008

1 reference

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American Journal of Human Genetics

2 January 2020

published in

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2 January 2020

volume

82

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2 January 2020

issue

2

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2 January 2020

page(s)

366-374

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Hypothalamic hamartoma: basic mechanisms of intrinsic epileptogenesis.

2 January 2020

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Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

30 September 2017

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What you can learn from one gene: GLI3

30 September 2017

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

30 September 2017

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30 September 2017

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Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders

30 September 2017

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Hypothalamic hamartoma and epilepsy in children: illustrative cases of possible evolutions.

30 September 2017

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30 September 2017

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Disconnecting surgical treatment of hypothalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification

30 September 2017

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The pressure rises: update on the genetics of phaeochromocytoma

30 September 2017

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

30 September 2017

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Hypothalamic hamartoma, precocious puberty and gelastic seizures: a special model of "epileptic" developmental disorder

30 September 2017

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The relationship between magnetic resonance imaging findings and clinical manifestations of hypothalamic hamartoma

30 September 2017

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GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

30 September 2017

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Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome

30 September 2017

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Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

30 September 2017

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Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging

30 September 2017

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30 September 2017

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5 September 2018

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5 September 2018

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5 September 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/18252217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High-throughput SNP genotyping by single-tube PCR with Tm-shift primers

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PubMed

https://pubmed.ncbi.nlm.nih.gov/18252217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2007.10.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18252217%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18252217%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference