Literature DB >> 32125475

The link between inner ear malformations and the rest of the body: what we know so far about genetic, imaging and histology.

Felice D'Arco1, Eser Sanverdi2, William T O'Brien3, Ajay Taranath4, Giacomo Talenti5, Susan I Blaser6.   

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Year:  2020        PMID： 32125475     DOI： 10.1007/s00234-020-02382-3

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


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  20 in total

1.  Updated diagnostic criteria for CHARGE syndrome: a proposal.

Authors:  Alain Verloes
Journal:  Am J Med Genet A       Date:  2005-03-15       Impact factor: 2.802

2.  Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

Authors:  Cameron F Parsa; Matthieu P Robert
Journal:  JAMA Ophthalmol       Date:  2013-04       Impact factor: 7.389

3.  Histopathology of inner ear malformations: Do we have enough evidence to explain pathophysiology?

Authors:  Levent Sennaroglu
Journal:  Cochlear Implants Int       Date:  2015-07-09

4.  Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway.

Authors:  Thomas M Coate; Steven Raft; Xiumei Zhao; Aimee K Ryan; E Bryan Crenshaw; Matthew W Kelley
Journal:  Neuron       Date:  2012-01-12       Impact factor: 17.173

5.  Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Authors:  Simone Rost; Elisa Bach; Cordula Neuner; Indrajit Nanda; Sandra Dysek; Reginald E Bittner; Alexander Keller; Oliver Bartsch; Robert Mlynski; Thomas Haaf; Clemens R Müller; Erdmute Kunstmann
Journal:  Eur J Hum Genet       Date:  2013-05-29       Impact factor: 4.246

6.  The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes.

Authors:  Andrew P Chervenak; Lisa M Bank; Nicole Thomsen; Hannah C Glanville-Jones; Skibo Jonathan; Kathleen J Millen; Ruth M Arkell; Kate F Barald
Journal:  Dev Dyn       Date:  2014-09-16       Impact factor: 3.780

Review 7.  Genetics of Hearing Loss: Syndromic.

Authors:  Tal Koffler; Kathy Ushakov; Karen B Avraham
Journal:  Otolaryngol Clin North Am       Date:  2015-10-09       Impact factor: 3.346

8.  Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Authors:  Veronique Pingault; Virginie Bodereau; Viviane Baral; Severine Marcos; Yuli Watanabe; Asma Chaoui; Corinne Fouveaut; Chrystel Leroy; Odile Vérier-Mine; Christine Francannet; Delphine Dupin-Deguine; Françoise Archambeaud; François-Joseph Kurtz; Jacques Young; Jérôme Bertherat; Sandrine Marlin; Michel Goossens; Jean-Pierre Hardelin; Catherine Dodé; Nadege Bondurand
Journal:  Am J Hum Genet       Date:  2013-05-02       Impact factor: 11.025

9.  A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.

Authors:  Yalan Liu; Lili Wang; Yong Feng; Chufeng He; Deyuan Liu; Xinzhang Cai; Lu Jiang; Hongsheng Chen; Chang Liu; Hong Wu; Lingyun Mei
Journal:  PLoS One       Date:  2016-12-20       Impact factor: 3.240

10.  Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Authors:  Sven Enerbäck; Daniel Nilsson; Noel Edwards; Mikael Heglind; Sumaya Alkanderi; Emma Ashton; Asma Deeb; Feras E B Kokash; Abdul R A Bakhsh; William Van't Hoff; Stephen B Walsh; Felice D'Arco; Arezoo Daryadel; Soline Bourgeois; Carsten A Wagner; Robert Kleta; Detlef Bockenhauer; John A Sayer
Journal:  J Am Soc Nephrol       Date:  2017-12-14       Impact factor: 10.121
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  2 in total

1.  Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.

Authors:  G Talenti; C Robson; M S Severino; C A Alves; D Chitayat; H Dahmoush; L Smith; F Muntoni; S I Blaser; F D'Arco
Journal:  AJNR Am J Neuroradiol       Date:  2020-10-29       Impact factor: 3.825

Review 2.  Imaging of inner ear malformations: a primer for radiologists.

Authors:  Paola Feraco; Silvia Piccinini; Cesare Gagliardo
Journal:  Radiol Med       Date:  2021-07-01       Impact factor: 3.469
  2 in total

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