(Q35581537)

English

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

scientific article published on September 2011

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21885617%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred (English)

1 reference

Europe PubMed Central

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12 February 2020

cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Ayşe B. Tekinay

2

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12 February 2020

9

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12 February 2020

12

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12 February 2020

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Suleyman Gulsuner

1

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12 February 2020

Katja Doerschner

3

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12 February 2020

Huseyin Boyaci

4

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12 February 2020

Hilal Unal

6

1 reference

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12 February 2020

Aslihan Ors

7

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12 February 2020

O Emre Onat

8

1 reference

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12 February 2020

A Nazli Basak

10

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12 February 2020

Meliha Tan

13

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12 February 2020

Uner Tan

14

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12 February 2020

Murat Gunel

15

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12 February 2020

Tayfun Ozcelik

16

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12 February 2020

Kaya Bilguvar

5

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12 February 2020

Haluk Topaloglu

11

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12 February 2020

publication date

1 September 2011

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12 February 2020

Genome Research

1 reference

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12 February 2020

21

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Europe PubMed Central

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12 February 2020

12

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21885617%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1995-2003

1 reference

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12 February 2020

The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling

1 reference

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12 July 2018

Integrative genomics viewer

1 reference

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Identifying a high fraction of the human genome to be under selective constraint using GERP++.

1 reference

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12 July 2018

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The UCSC Genome Browser database: update 2011

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Fast and accurate long-read alignment with Burrows-Wheeler transform

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Exome sequencing of a multigenerational human pedigree

1 reference

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HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

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CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

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The Drosophila BEACH family protein, blue cheese, links lysosomal axon transport with motor neuron degeneration

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

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Bayesian analysis of neuroimaging data in FSL.

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

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Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

1 reference

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1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

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Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

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Bchs, a BEACH domain protein, antagonizes Rab11 in synapse morphogenesis and other developmental events.

1 reference

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An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest

1 reference

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1 reference

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Genome-scale identification of membrane-associated human mRNAs

1 reference

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12 July 2018

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1 reference

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1 reference

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based on heuristic

inferred from PubMed ID database lookup

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10.1101/GR.126110.111

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Europe PubMed Central

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12 February 2020

PMC publication ID

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Europe PubMed Central

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12 February 2020

PubMed publication ID

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Europe PubMed Central

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12 February 2020

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