(Q28251575)

20 July 2018

title

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome (English)

1 reference

20 July 2018

lateral meningocele syndrome

main subject

1 reference

5

1 reference

20 July 2018

Karen Gripp

1

object named as

Karen W Gripp

1 reference

20 July 2018

author name string

Katherine M Robbins

2

1 reference

20 July 2018

Nara L Sobreira

3

1 reference

20 July 2018

P Dane Witmer

4

1 reference

20 July 2018

Kristiina Avela

6

1 reference

20 July 2018

Outi Makitie

7

1 reference

20 July 2018

Daniela Alves

8

1 reference

20 July 2018

Jacob S Hogue

9

1 reference

20 July 2018

Elaine H Zackai

10

1 reference

20 July 2018

Kimberly F Doheny

11

1 reference

20 July 2018

Deborah L Stabley

12

1 reference

20 July 2018

Katia Sol-Church

13

1 reference

20 July 2018

language of work or name

English

0 references

publication date

13 November 2014

1 reference

20 July 2018

number of pages

11

1 reference

American Journal of Medical Genetics

inferred from page(s)

published in

1 reference

20 July 2018

volume

167A

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20 July 2018

issue

2

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20 July 2018

page(s)

271-281

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20 July 2018

Mutations in NOTCH1 cause Adams-Oliver syndrome

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

An integrated map of genetic variation from 1,092 human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Notch3: from subtle structural differences to functional diversity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Familial osteosclerosis with abnormalities of the nervous system and meninges

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

Hajdu-Cheney syndrome with severe dural ectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

Lehman syndrome: a new syndrome for pierre robin sequence.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Lateral meningocele syndrome: three new patients and review of the literature

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5589071

Response to “Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes” by Gripp

27 November 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36863

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25394726

12 December 2020

inferred from PubMed ID database lookup

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25394726

12 December 2020

inferred from PubMed ID database lookup

Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25394726

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/AJMG.A.36863

1 reference

20 July 2018

PMC publication ID

5589071

1 reference

20 July 2018

PubMed publication ID

25394726

1 reference

20 July 2018