(Q51857474)

14 April 2018

title

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (English)

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14 April 2018

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3

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14 April 2018

Katsuhito Yasuno

10

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14 April 2018

Kaya Bilguvar

11

object named as

Kaya Bilguvar

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14 April 2018

Luis E Kolb

1

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14 April 2018

Zulfikar Arlier

2

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14 April 2018

Ali K Ozturk

4

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14 April 2018

Jennifer A Moliterno

5

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14 April 2018

Ozdem Erturk

6

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14 April 2018

Fatih Bayrakli

7

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14 April 2018

Baris Korkmaz

8

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14 April 2018

Michael L DiLuna

9

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14 April 2018

Tayfun Ozcelik

12

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14 April 2018

Beyhan Tuysuz

13

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14 April 2018

Matthew W State

14

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14 April 2018

Murat Gunel

15

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14 April 2018

publication date

15 January 2010

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14 April 2018

published in

Neurogenetics

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14 April 2018

volume

11

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14 April 2018

issue

3

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14 April 2018

page(s)

319-325

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14 April 2018

https://scigraph.springernature.com/pub.10.1007/s10048-009-0232-y

exact match

0 references

cites work

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0232-Y

Basic local alignment search tool

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0232-Y

A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution

21 January 2018

1 reference

12 December 2020

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

1 reference

12 December 2020

Normal plasma lipoproteins and fertility in gene-targeted mice homozygous for a disruption in the gene encoding very low density lipoprotein receptor

1 reference

12 December 2020

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

1 reference

12 December 2020

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

1 reference

12 December 2020

The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.

1 reference

12 December 2020

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

1 reference

12 December 2020

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites

1 reference

12 December 2020

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

1 reference

12 December 2020

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion

1 reference

12 December 2020

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

12 December 2020

188 Cases of Non-Progressive Ataxic Syndromes in Childhood – Aspects of aetiology and classification

1 reference

12 December 2020

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

12 December 2020

Non-progressive congenital ataxias.

1 reference

12 December 2020

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

12 December 2020

Genes and quadrupedal locomotion in humans

1 reference

12 December 2020

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

1 reference

12 December 2020

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

1 reference

12 December 2020

Non-progressive ataxia: origins, brain pathology and impairments in 78 swedish children.

1 reference

12 December 2020

Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene.

1 reference

12 December 2020

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

1 reference

12 December 2020

Living up to a name: the role of the VLDL receptor in lipid metabolism

1 reference

12 December 2020

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

1 reference

12 December 2020

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

1 reference

12 December 2020

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

1 reference

12 December 2020

Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody.

1 reference

12 December 2020

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

12 December 2020

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

12 December 2020

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

1 reference

12 December 2020

Primer3 on the WWW for general users and for biologist programmers

1 reference

12 December 2020

1 reference

12 December 2020

Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation

1 reference

12 December 2020

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

1 reference

12 December 2020

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

"Devolution" of bipedality

1 reference

12 December 2020

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

12 December 2020

Disequilibrium syndrome in Montana Hutterites.

1 reference

12 December 2020

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

1 reference

12 December 2020

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

1 reference

12 December 2020

10.1007/S10048-009-0232-Y

Identifiers

DOI

1 reference

14 April 2018

PubMed ID

20082205

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14 April 2018