(Q50884637)

24 March 2018

title

A novel rearrangement of occludin causes brain calcification and renal dysfunction. (English)

1 reference

24 March 2018

main subject

cerebral calcification

1 reference

Marissa A LeBlanc

1

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24 March 2018

Lynette S Penney

2

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24 March 2018

Daniel Gaston

3

1 reference

24 March 2018

Yuhao Shi

4

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24 March 2018

Erika Aberg

5

1 reference

24 March 2018

Mathew Nightingale

6

1 reference

24 March 2018

Haiyan Jiang

7

1 reference

24 March 2018

Roxanne M Gillett

8

1 reference

24 March 2018

Somayyeh Fahiminiya

9

1 reference

24 March 2018

Christine Macgillivray

10

1 reference

24 March 2018

Ellen P Wood

11

1 reference

24 March 2018

Philip D Acott

12

1 reference

24 March 2018

M Naeem Khan

13

1 reference

24 March 2018

Mark E Samuels

14

1 reference

24 March 2018

Jacek Majewski

15

1 reference

24 March 2018

Andrew Orr

16

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24 March 2018

Christopher R McMaster

17

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24 March 2018

Karen Bedard

18

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24 March 2018

publication date

21 June 2013

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24 March 2018

published in

Human Genetics

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24 March 2018

volume

132

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24 March 2018

issue

11

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24 March 2018

page(s)

1223-1234

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24 March 2018

https://scigraph.springernature.com/pub.10.1007/s00439-013-1327-y

exact match

0 references

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Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

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Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

21 January 2018

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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

21 January 2018

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

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21 January 2018

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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1327-Y

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21 January 2018

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Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

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Complex phenotype of mice lacking occludin, a component of tight junction strands.

21 January 2018

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21 January 2018

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Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23793442

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23793442

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based on heuristic

FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23793442

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-013-1327-Y

1 reference

24 March 2018

PubMed ID

23793442

1 reference

24 March 2018