Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation (Q36124405)

12 August 2017

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation (English)

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diencephalic-mesencephalic junction dysplasia

12 August 2017

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author

William B. Dobyns

3

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12 August 2017

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Maha S Zaki

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12 August 2017

Hauke Bartsch

5

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Anders M. Dale

6

object named as

Anders M Dale

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12 August 2017

9

Joseph G Gleeson

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12 August 2017

Sahar N Saleem

2

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12 August 2017

A James Barkovich

4

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12 August 2017

Manzar Ashtari

7

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12 August 2017

Naiara Akizu

8

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12 August 2017

Ana Maria Grijalvo-Perez

10

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12 August 2017

language of work or name

English

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publication date

20 July 2012

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12 August 2017

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12 August 2017

135

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12 August 2017

Pt 8

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12 August 2017

2416-2427

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The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

12 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Total and regional brain volumes in a population-based normative sample from 4 to 18 years: the NIH MRI Study of Normal Brain Development

2 October 2017

1 reference

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Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

2 October 2017

1 reference

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Human genetic disorders of axon guidance

2 October 2017

1 reference

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A developmental and genetic classification for midbrain-hindbrain malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Clinical and molecular features of Joubert syndrome and related disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Automated white-matter tractography using a probabilistic diffusion tensor atlas: Application to temporal lobe epilepsy

2 October 2017

1 reference

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Reliability in multi-site structural MRI studies: effects of gradient non-linearity correction on phantom and human data

2 October 2017

1 reference

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Isthmus organizer and regionalization of the mesencephalon and metencephalon

2 October 2017

1 reference

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Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

2 October 2017

1 reference

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

HomozygosityMapper--an interactive approach to homozygosity mapping

2 July 2018

1 reference

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Induction of a mesencephalic phenotype in the 2-day-old chick prosencephalon is preceded by the early expression of the homeobox gene en.

2 July 2018

1 reference

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A developmental classification of malformations of the brainstem

2 July 2018

1 reference

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

23 September 2018

1 reference

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Engrailed and Fgf8 act synergistically to maintain the boundary between diencephalon and mesencephalon

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Neuropathology of Joubert syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

FGF8 induces formation of an ectopic isthmic organizer and isthmocerebellar development via a repressive effect on Otx2 expression.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407423

MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22822038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWS162

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12 August 2017

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12 August 2017

PubMed publication ID

22822038

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