(Q58568725)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30413633%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

PCNT point mutations and familial intracranial aneurysms (English)

1 reference

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2 May 2020

2

1 reference

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2 May 2020

Michael B Bober

13

1 reference

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2 May 2020

19

James Meschia

1 reference

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2 May 2020

17

David Miller

1 reference

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2 May 2020

author name string

Oswaldo Lorenzo-Betancor

1

1 reference

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2 May 2020

Emily Edwards

3

1 reference

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2 May 2020

Rocío Vázquez-do-Campo

4

1 reference

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2 May 2020

Eric W Klee

5

1 reference

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2 May 2020

Catherine Labbé

6

1 reference

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2 May 2020

Kyndall Hodges

7

1 reference

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2 May 2020

Patrick Glover

8

1 reference

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2 May 2020

Ashley N Sigafoos

9

1 reference

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2 May 2020

Alexandra I Soto

10

1 reference

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2 May 2020

Ronald L Walton

11

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2 May 2020

Stephen Doxsey

12

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2 May 2020

Sarah Jennings

14

1 reference

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2 May 2020

Karl J Clark

15

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2 May 2020

Yan Asmann

16

1 reference

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2 May 2020

William D Freeman

18

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2 May 2020

Owen A Ross

20

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2 May 2020

language of work or name

English

0 references

publication date

9 November 2018

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2 May 2020

1 reference

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2 May 2020

volume

91

1 reference

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2 May 2020

issue

23

1 reference

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2 May 2020

page(s)

e2170-e2181

1 reference

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Pericentrin, a highly conserved centrosome protein involved in microtubule organization

2 May 2020

cites work

1 reference

12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

12 December 2020

Prevalence and risk of rupture of intracranial aneurysms: a systematic review

1 reference

12 December 2020

Multiple intracranial aneurysms in a patient with Seckel syndrome.

1 reference

12 December 2020

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

12 December 2020

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin.

1 reference

12 December 2020

Are rare variants responsible for susceptibility to complex diseases?

1 reference

12 December 2020

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly

1 reference

12 December 2020

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

1 reference

12 December 2020

[An analysis for the phenotype and genotype of autosomal dominant polycystic kidney disease from two Chinese families]

1 reference

12 December 2020

Characterization of pericentrin isoforms in vivo

1 reference

12 December 2020

Subarachnoid haemorrhage

1 reference

12 December 2020

A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study

1 reference

12 December 2020

Incidental findings on brain MRI in the general population

1 reference

12 December 2020

Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study

1 reference

12 December 2020

Genome screen in familial intracranial aneurysm

1 reference

12 December 2020

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype

1 reference

12 December 2020

Uncovering the roles of rare variants in common disease through whole-genome sequencing

1 reference

12 December 2020

Cost of illness in subarachnoid hemorrhage: a German longitudinal study

1 reference

12 December 2020

Unruptured intracranial aneurysms

1 reference

12 December 2020

Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis

1 reference

12 December 2020

Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: differences in multiplicity and location

1 reference

12 December 2020

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

1 reference

12 December 2020

Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk

1 reference

12 December 2020

Pericentrin in health and disease: Exploring the patchwork of Pericentrin splice variants

1 reference

12 December 2020

Shootin1 acts in concert with KIF20B to promote polarization of migrating neurons

1 reference

12 December 2020

Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis

1 reference

12 December 2020

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

1 reference

12 December 2020

Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.

1 reference

12 December 2020

Vascular complications in autosomal dominant polycystic kidney disease

1 reference

12 December 2020

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

1 reference

12 December 2020

UniProt: the universal protein knowledgebase

1 reference

12 December 2020

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

1 reference

12 December 2020

Global, regional, and national burden of neurological disorders during 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015.

1 reference

12 December 2020

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

1 reference

12 December 2020

10.1212/WNL.0000000000006614

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30413633%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30413633%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference