(Q54132256)

English

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777491%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777491%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

David R. FitzPatrick

5

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26 March 2020

1

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26 March 2020

2

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26 March 2020

Sarah M Robbins

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26 March 2020

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26 March 2020

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26 March 2020

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26 March 2020

Julie Hoover-Fong

19

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26 March 2020

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Carlos E Speck-Martins

4

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26 March 2020

Richard Redett

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26 March 2020

Andreas Dufke

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26 March 2020

Jeske J T van Harssel

10

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26 March 2020

Angela Robles

12

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26 March 2020

Elizabeth C Engle

14

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26 March 2020

Moebius Syndrome Research Consortium

15

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26 March 2020

Ethylin W Jabs

16

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26 March 2020

David Valle

17

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26 March 2020

John Carey

18

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26 March 2020

Nara L M Sobreira

20

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26 March 2020

Alain Verloes

11

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26 March 2020

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4 August 2017

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26 March 2020

American Journal of Medical Genetics

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26 March 2020

173

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26 March 2020

10

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26 March 2020

2763-2771

1 reference

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26 March 2020

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Analytical validation of whole exome and whole genome sequencing for clinical applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Fatal recrudescence of malignant hyperthermia in an infant with Moebius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Stac3 is a novel regulator of skeletal muscle development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Stac3 is required for myotube formation and myogenic differentiation in vertebrate skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Neurological disorders. The mystery of the missing smile.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843189

25 August 2018

Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38375

21 January 2018

New case of the Carey-Fineman-Ziter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28777491

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/28777491

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.38375

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28777491%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PMC publication ID

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Europe PubMed Central

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26 March 2020

PubMed publication ID

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Europe PubMed Central

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26 March 2020

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