Filiz Basak Cengiz

Filiz Basak Cengiz

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Filiz Basak Cengiz

Filiz Basak Cengiz

Publications by authors named "Filiz Basak Cengiz"

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13Publications

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

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October 2017

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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July 2017

Dominant deafness-onychodystrophy syndrome caused by an mutation.

Clin Case Rep 2017 Apr 8;5(4):376-379. Epub 2017 Feb 8.

John P. Hussman Institute for Human GenomicsUniversity of Miami Miller School of MedicineMiamiFloridaUSA; Department of Human GeneticsDr. John T. Macdonald FoundationUniversity of Miami Miller School of MedicineMiamiFloridaUSA.

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April 2017

Audiological findings in Noonan syndrome.

Int J Pediatr Otorhinolaryngol 2016 Oct 27;89:50-4. Epub 2016 Jul 27.

Dr. John Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, USA.

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October 2016

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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September 2014

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2013

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Ann Hum Genet 2010 Mar 27;74(2):155-64. Epub 2010 Jan 27.

The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA.

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March 2010

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Laryngoscope 2010 Feb;120(2):359-64

Department of Otorhinolaryngology, Division of Molecular Pharmacokinetics and Imaging, Biochemical Genetics and National Neonatal Screening Laboratories, Vienna, Austria.

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February 2010

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.

Am J Med Genet A 2007 Apr;143A(8):875-80

Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

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April 2007

SLC26A4 mutations are associated with a specific inner ear malformation.

Int J Pediatr Otorhinolaryngol 2007 Mar 2;71(3):479-86. Epub 2007 Jan 2.

Department of Radiodiagnostics, Ankara University School of Medicine, Ankara, Turkey.

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March 2007