Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. (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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Katsuhito Yasuno

10

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Kaya Bilguvar

11

object named as

Kaya Bilguvar

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14 April 2018

Luis E Kolb

1

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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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Ozdem Erturk

6

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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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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

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cites work

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

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

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

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

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

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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 dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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

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

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

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Non-progressive congenital ataxias.

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

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Genes and quadrupedal locomotion in humans

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Primer3 on the WWW for general users and for biologist programmers

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12 December 2020

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations in PTF1A cause pancreatic and cerebellar agenesis

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12 December 2020

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

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12 December 2020

"Devolution" of bipedality

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12 December 2020

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

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12 December 2020

Disequilibrium syndrome in Montana Hutterites.

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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

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14 April 2018

PubMed ID

20082205

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14 April 2018