(Q57269546)

3

object named as

Pawel Stankiewicz

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author name string

Melissa B Ramocki

1

0 references

Fernando Scaglia

2

0 references

Jeremy Y Jones

5

0 references

Gary D Clark

American Journal of Medical Genetics

6

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language of work or name

English

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publication date

July 2011

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published in

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volume

155A

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issue

7

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page(s)

1574-80

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cites work

Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Holoprosencephaly: clinical, anatomic, and molecular dimensions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Zic2 is required for neural crest formation and hindbrain patterning during mouse development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

The ZIC gene family in development and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Chiari II malformation mimicking partial rhombencephalosynapsis? A case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Genetic variants inZIC1,ZIC2, andZIC3 are not major risk factors for neural tube defects in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Zic2 regulates the kinetics of neurulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Deletion 22q13.3 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Rhombencephalosynapsis and a Chiari II Malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Analysis of genotype-phenotype correlations in human holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34029

Partial rhombencephalosynapsis and Chiari II malformation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

Partial rhombencephalosynapsis.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

Zic2 controls cerebellar development in cooperation with Zic1

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

Mouse Zic1 is involved in cerebellar development

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3121908

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

2 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21638761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21638761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unusual MRI findings in rhombencephalosynapsis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21638761