(Q35918794)

English

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

scientific article published on 26 March 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

0 references

William B. Dobyns

10

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Europe PubMed Central

PMC publication ID

11 August 2017

Kathleen J Millen

object named as

Kathleen J Millen

9

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author name string

Gisele E Ishak

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Jennifer C Dempsey

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Dennis W W Shaw

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Hannah Tully

4

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Europe PubMed Central

PMC publication ID

11 August 2017

Margaret P Adam

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Pedro A Sanchez-Lara

6

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Ian Glass

7

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Tessa C Rue

8

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Dan Doherty

11

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

language of work or name

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publication date

26 March 2012

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

135

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Pt 5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1370-1386

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Lmx1a regulates fates and location of cells originating from the cerebellar rhombic lip and telencephalic cortical hem

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Pathogenesis of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Malformations of the midbrain and hindbrain: a retrospective study and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Rhombencephalosynapsis: cerebellar embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Aventriculy: a new entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

MR imaging of rhombencephalosynapsis: report of three cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

Cerebellotrigeminal and focal dermal dysplasia: A newly recognized neurocutaneous syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

27 July 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS065

21 January 2018

Partial rhombencephalosynapsis and Chiari type II malformation in a child: a true association supported by DTI tractography.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Chiari II malformation mimicking partial rhombencephalosynapsis? A case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Cognitive outcome in children with rhombencephalosynapsis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Diffusion tensor imaging of midline posterior fossa malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Fusion of the cerebellar hemispheres ventral to the brainstem: a rare hindbrain-related malformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynaps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Embryonic signaling centers expressing BMP, WNT and FGF proteins interact to pattern the cerebral cortex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Partial rhombencephalosynapsis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Molecular genetic classification of central nervous system malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): an unusual aberrant syngenetic complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

MRI and clinical findings in rhombencephalosynapsis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Rhombencephalosynapsis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases.

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS065

21 January 2018

Rhombencephalosynapsis: a Viennese malformation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Congenital fusion of the thalami (atresia of the third ventricle) and associated anomalies in a 6 months old infant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei and cerebellar hemispheres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3338925

24 September 2018

A NEW MEASURE OF RANK CORRELATION

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS065

21 January 2018

Antenatal ultrasound diagnosis of cerebellar vermian agenesis in a case of rhombencephalosynapsis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uncommon posterior cranial fossa anomalies: MRI with clinical correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Rhombencephalon synapsis, a systematized cerebellar abnormality]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhombencephalosynapsis with and without associated malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual MRI findings in rhombencephalosynapsis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhombencephalosynapsis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22451504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/BRAIN/AWS065

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

ResearchGate publication ID

0 references

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