(Q50349392)

5 March 2018

title

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. (English)

1 reference

5 March 2018

1 reference

Maria Ramos

1

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5 March 2018

Alisha Wilkens

series ordinal

2

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5 March 2018

Ian D Krantz

series ordinal

3

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5 March 2018

Yaning Wu

series ordinal

4

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5 March 2018

publication date

29 April 2016

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5 March 2018

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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5 March 2018

volume

172

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5 March 2018

issue

2

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5 March 2018

page(s)

109-116

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5 March 2018

Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

A subterminal deletion of the long arm of chromosome 10: a clinical report and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

The human genome browser at UCSC

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

BAG3: a new player in the heart failure paradigm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

BAG3 myofibrillar myopathy presenting with cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Abnormal epithelial cell polarity and ectopic epidermal growth factor receptor (EGFR) expression induced in Emx2 KO embryonic gonads.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

10qter deletion: a new case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Distal 10q monosomy: new evidence for a neurobehavioral condition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Chromosome 10qter deletion syndrome: a review and report of three new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

Identification of critical regions for clinical features of distal 10q deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31496

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31496

1 reference

5 March 2018

1 reference

5 March 2018