Duygu Duman

Duygu Duman

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Duygu Duman

Duygu Duman

Publications by authors named "Duygu Duman"

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26Publications

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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

Research of genetic bases of hereditary non-syndromic hearing loss.

Turk Pediatri Ars 2017 Sep 1;52(3):122-132. Epub 2017 Sep 1.

Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

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September 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

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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May 2016

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.

Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

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August 2015

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

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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July 2014

Evidence for genotype-phenotype correlation for OTOF mutations.

Int J Pediatr Otorhinolaryngol 2014 Jun 28;78(6):950-3. Epub 2014 Mar 28.

Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address:

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June 2014

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.

Pediatr Nephrol 2013 Nov 28;28(11):2143-7. Epub 2013 Jun 28.

Division of Pediatric Nephrology, Ankara University School of Medicine, 06100, Ankara, Turkey.

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November 2013

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

Autosomal recessive nonsyndromic deafness genes: a review.

Front Biosci (Landmark Ed) 2012 Jun 1;17:2213-36. Epub 2012 Jun 1.

Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey.

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June 2012

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

Fertil Steril 2011 Aug 17;96(2):e125-30. Epub 2011 Jun 17.

Department of Human Genetics and Institute for Human Genomics, University of Miami School of Medicine, Miami, Florida, USA.

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August 2011

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

Genet Test Mol Biomarkers 2011 Jan-Feb;15(1-2):29-33. Epub 2010 Nov 30.

Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey.

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July 2011

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Am J Hum Genet 2010 Nov 28;87(5):679-86. Epub 2010 Oct 28.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.

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November 2010

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

Genet Test Mol Biomarkers 2010 Aug;14(4):543-50

Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

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August 2010