(Q37022236)

17 August 2017

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles (English)

1 reference

17 August 2017

0 references

9

1 reference

17 August 2017

Lokesh Gakhar

3

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Kathleen J Millen

object named as

Kathleen J Millen

8

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Enza Maria Valente

object named as

Enza M Valente

22

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Benjamin Darbro

object named as

Benjamin W Darbro

1

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author name string

Vinit B Mahajan

2

1 reference

17 August 2017

Jessica M Skeie

4

1 reference

17 August 2017

Elizabeth Campbell

5

1 reference

17 August 2017

Shu Wu

6

1 reference

17 August 2017

Xinyu Bing

7

1 reference

17 August 2017

John A Kessler

10

1 reference

17 August 2017

Ali Jalali

11

1 reference

17 August 2017

James Cremer

12

1 reference

17 August 2017

Alberto Segre

13

1 reference

17 August 2017

J Robert Manak

14

1 reference

17 August 2017

Kimerbly A Aldinger

15

1 reference

17 August 2017

Satoshi Suzuki

16

1 reference

17 August 2017

Nagato Natsume

17

1 reference

17 August 2017

Maya Ono

18

1 reference

17 August 2017

Huynh Dai Hai

19

1 reference

17 August 2017

Le Thi Viet

20

1 reference

17 August 2017

Sara Loddo

21

1 reference

17 August 2017

Laura Bernardini

23

1 reference

17 August 2017

Nitin Ghonge

24

1 reference

17 August 2017

Polly J Ferguson

25

1 reference

17 August 2017

Alexander G Bassuk

26

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17 August 2017

28 May 2013

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17 August 2017

1 reference

17 August 2017

34

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17 August 2017

8

1 reference

17 August 2017

1075-1079

1 reference

A comparative analysis of exome capture

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Comprehensive comparison of three commercial human whole-exome capture platforms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Comparison of solution-based exome capture methods for next generation sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Performance comparison of exome DNA sequencing technologies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

A developmental and genetic classification for midbrain-hindbrain malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

The FoldX web server: an online force field

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Laminin gamma1 is critical for Schwann cell differentiation, axon myelination, and regeneration in the peripheral nerve

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Complex between nidogen and laminin fragments reveals a paradigmatic beta-propeller interface

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

A single EGF-like motif of laminin is responsible for high affinity nidogen binding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Structural and genetic analysis of laminin-nidogen interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Familial occipital cephalocele in a fetus at 21 weeks' gestation: imaging demonstration across 3 generations.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

The basement membrane components nidogen and type XVIII collagen regulate organization of neuromuscular junctions in Caenorhabditis elegans.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Neurologic defects and selective disruption of basement membranes in mice lacking entactin-1/nidogen-1.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Specific ablation of the nidogen-binding site in the laminin gamma1 chain interferes with kidney and lung development.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3714376

Autosomal dominant occipital cephalocele

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23674478

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22351

1 reference

17 August 2017

1 reference

17 August 2017

1 reference