GJB2 sequencing, Multiplex Ligation Probe Amplification (MLPA) and Whole Exome Sequencing (WES) for the molecular diagnosis of Non-Syndromic Hearing Loss (NSHL): the experience of a cohort of 277 Italian families

被引：0

作者：

Morgan, Anna ^{[1
]}

Faletra, Flavio ^{[1
]}

Lenarduzzi, Stefania ^{[1
]}

La Bianca, Martina ^{[1
]}

Pelliccione, Giulia ^{[1
]}

Spedicati, Beatrice ^{[2
]}

Feresin, Agnese ^{[2
]}

Mazza, Daniela ^{[1
]}

Sensi, Alberto ^{[3
]}

Graziano, Claudio ^{[4
]}

Seri, Marco ^{[4
]}

Ambrosetti, Umberto ^{[5
]}

Gasparini, Paolo ^{[1
,2
]}

Girotto, Giorgia ^{[1
,2
]}

机构：

[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy

[2] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy

[3] Dept Clin Pathol, Med Genet Unit, Cesena, Italy

[4] St Orsola Marcello Malpighi Hosp, Unit Med Genet, Bologna, Italy

[5] Univ Milan, UOC Audiol, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Milan, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P02.028.A

引用

页码：126 / 126

页数：1

共 8 条

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[2] Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
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[3] Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing
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[5] Genetic Diagnosis of Rubinsteine-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
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[6] Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing loss
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[7] Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
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[8] Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity
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