Publications by authors named "Saima Riazuddin"

98Publications

Novel Mutations in , , , and Identified in Familial Cases of Prelingual Hearing Loss.

Genes (Basel) 2020 Aug 22;11(9). Epub 2020 Aug 22.

Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.3390/genes11090978DOI Listing
August 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Hum Genet 2020 Dec 19;139(12):1565-1574. Epub 2020 Jun 19.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s00439-020-02197-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572817PMC
December 2020

Retraction notice to "PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells" [Int. J. Biochem. Cell Biol. 109C (2019) 40-58].

Int J Biochem Cell Biol 2020 08 10;125:105762. Epub 2020 Jun 10.

National Institute of Neurological Disorders and Stroke, National Institute of Heath, Bethesda, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2020.105762DOI Listing
August 2020

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.

Front Genet 2020 23;11:313. Epub 2020 Apr 23.

Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, United States.

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http://dx.doi.org/10.3389/fgene.2020.00313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191070PMC
April 2020

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

Pigment Cell Melanoma Res 2020 07 27;33(4):556-565. Epub 2020 Apr 27.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269830PMC
July 2020

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.

Genes (Basel) 2019 12 10;10(12). Epub 2019 Dec 10.

Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA.

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http://dx.doi.org/10.3390/genes10121031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947215PMC
December 2019

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Invest Ophthalmol Vis Sci 2019 11;60(14):4811-4819

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.19-27263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944245PMC
November 2019

PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells.

Int J Biochem Cell Biol 2019 04 30;109:40-58. Epub 2019 Jan 30.

National Institute of Neurological Disorders and Stroke, National Institute of Heath, Bethesda, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2019.01.021DOI Listing
April 2019

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Am J Hum Genet 2018 11 25;103(5):679-690. Epub 2018 Oct 25.

Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
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http://dx.doi.org/10.1016/j.ajhg.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217759PMC
November 2018

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma.

Genes (Basel) 2018 Oct 30;9(11). Epub 2018 Oct 30.

Department of Ophthalmology and Visual Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.

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http://www.mdpi.com/2073-4425/9/11/527
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http://dx.doi.org/10.3390/genes9110527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266624PMC
October 2018

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

PLoS Genet 2018 03 28;14(3):e1007297. Epub 2018 Mar 28.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891075PMC
March 2018

Inframe deletion of human is associated with deafness, vestibulopathy and vision impairment.

J Med Genet 2018 07 23;55(7):479-488. Epub 2018 Mar 23.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2017-105221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232856PMC
July 2018

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

J Clin Invest 2018 04 12;128(4):1509-1522. Epub 2018 Mar 12.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology - Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1172/JCI97350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873844PMC
April 2018

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear.

J Neurosci 2016 Jan;36(4):1347-61

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina 29425, and

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http://dx.doi.org/10.1523/JNEUROSCI.1853-15.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728730PMC
January 2016

Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig.

PLoS One 2015 23;10(11):e0143606. Epub 2015 Nov 23.

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0143606PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657906PMC
June 2016

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Pigment Cell Melanoma Res 2016 Mar 18;29(2):231-5. Epub 2015 Dec 18.

Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://doi.wiley.com/10.1111/pcmr.12438
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062593PMC
http://dx.doi.org/10.1111/pcmr.12438DOI Listing
March 2016

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells.

Dis Model Mech 2015 Dec 23;8(12):1543-53. Epub 2015 Oct 23.

Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA

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http://dmm.biologists.org/cgi/doi/10.1242/dmm.023077
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http://dx.doi.org/10.1242/dmm.023077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728323PMC
December 2015

Phenotypic variability associated with the D226N allele of IMPDH1.

Ophthalmology 2015 Feb 13;122(2):429-31. Epub 2014 Nov 13.

National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.07.057DOI Listing
February 2015

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Eur J Hum Genet 2015 Apr 23;23(4):473-80. Epub 2014 Jul 23.

1] Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Pakistan [2] Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2014.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666578PMC
April 2015

Increasing the complexity: new genes and new types of albinism.

Pigment Cell Melanoma Res 2014 Jan 17;27(1):11-8. Epub 2013 Oct 17.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.

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http://doi.wiley.com/10.1111/pcmr.12167
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http://dx.doi.org/10.1111/pcmr.12167DOI Listing
January 2014

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

PLoS Genet 2013 5;9(9):e1003774. Epub 2013 Sep 5.

Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764207PMC
March 2014

Usher proteins in inner ear structure and function.

Physiol Genomics 2013 Nov 10;45(21):987-9. Epub 2013 Sep 10.

Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Ohio;

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http://dx.doi.org/10.1152/physiolgenomics.00135.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841788PMC
November 2013

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

J Clin Invest 2013 Sep 27;123(9):4036-49. Epub 2013 Aug 27.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology / Head and Neck Surgery, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1172/JCI69031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754262PMC
September 2013

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.

J Hum Genet 2012 Oct 21;57(10):633-7. Epub 2012 Jun 21.

Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1038/jhg.2012.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596105PMC
October 2012

Molecular and clinical studies of X-linked deafness among Pakistani families.

J Hum Genet 2011 Jul 2;56(7):534-40. Epub 2011 Jun 2.

National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143270PMC
July 2011

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

BMC Med Genet 2011 Feb 9;12:21. Epub 2011 Feb 9.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1186/1471-2350-12-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042908PMC
February 2011

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Am J Hum Genet 2011 Jan 23;88(1):19-29. Epub 2010 Dec 23.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and the Department of Otolaryngology, College of Medicine, University of Cincinnati, OH, 45229 USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014371PMC
January 2011

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Am J Hum Genet 2010 Mar 18;86(3):378-88. Epub 2010 Feb 18.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833391PMC
March 2010

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Am J Hum Genet 2009 Aug 30;85(2):273-80. Epub 2009 Jul 30.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725234PMC
August 2009

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

J Hum Genet 2009 May 13;54(5):266-70. Epub 2009 Mar 13.

National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2009.21DOI Listing
May 2009

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration.

Mol Vis 2008 8;14:2227-36. Epub 2008 Dec 8.

National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2593751PMC
January 2009

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Hum Genet 2008 Oct 22;124(3):215-23. Epub 2008 Aug 22.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-008-0543-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716558PMC
October 2008

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Hum Mutat 2008 Apr;29(4):502-11

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1002/humu.20677DOI Listing
April 2008

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Hum Genet 2007 Dec 10;122(5):445-50. Epub 2007 Aug 10.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan.

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http://dx.doi.org/10.1007/s00439-007-0418-zDOI Listing
December 2007

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Hum Mutat 2007 Oct;28(10):1014-9

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA.

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http://dx.doi.org/10.1002/humu.20556DOI Listing
October 2007

Tricellulin is a tight-junction protein necessary for hearing.

Am J Hum Genet 2006 Dec 31;79(6):1040-51. Epub 2006 Oct 31.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/510022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698716PMC
December 2006

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Hum Genet 2007 Feb 26;120(6):789-93. Epub 2006 Oct 26.

National Center of Excellence in Molecular Biology, University of Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan.

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http://dx.doi.org/10.1007/s00439-006-0275-1DOI Listing
February 2007

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

J Med Genet 2006 Aug 3;43(8):634-40. Epub 2006 Feb 3.

National Centre of Excellence in Molecular Biology, Punjab University, Thokar Niaz Baig, Lahore, Pakistan.

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http://dx.doi.org/10.1136/jmg.2005.039834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564584PMC
August 2006

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Am J Hum Genet 2006 Jan 21;78(1):137-43. Epub 2005 Nov 21.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/499164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380211PMC
January 2006

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Hum Genet 2005 Apr 12;116(5):407-12. Epub 2005 Feb 12.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700 Pakistan.

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http://dx.doi.org/10.1007/s00439-004-1247-yDOI Listing
April 2005

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Hum Genet 2005 Jan 6;116(1-2):17-22. Epub 2004 Nov 6.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore 53700, Pakistan.

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http://dx.doi.org/10.1007/s00439-004-1205-8DOI Listing
January 2005

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Hum Mol Genet 2003 Dec 21;12(24):3215-23. Epub 2003 Oct 21.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddg358DOI Listing
December 2003

Recent advances in the understanding of syndromic forms of hearing loss.

Ear Hear 2003 Aug;24(4):289-302

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1097/01.AUD.0000079804.00047.CEDOI Listing
August 2003

Mutations of MYO6 are associated with recessive deafness, DFNB37.

Am J Hum Genet 2003 May 8;72(5):1315-22. Epub 2003 Apr 8.

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180285PMC
http://dx.doi.org/10.1086/375122DOI Listing
May 2003

Genetic modifiers of hereditary hearing loss.

Adv Otorhinolaryngol 2002 ;61:224-9

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

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http://dx.doi.org/10.1159/000066813DOI Listing
February 2003

Clinical manifestations of DFNB29 deafness.

Adv Otorhinolaryngol 2002 ;61:156-60

Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.

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http://dx.doi.org/10.1159/000066828DOI Listing
February 2003

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Am J Hum Genet 2002 Sep 24;71(3):632-6. Epub 2002 Jul 24.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.

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http://dx.doi.org/10.1086/342193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379198PMC
September 2002

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Hum Genet 2002 Jun 3;110(6):527-31. Epub 2002 May 3.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-002-0732-4DOI Listing
June 2002

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Nat Genet 2002 Mar 19;30(3):277-84. Epub 2002 Feb 19.

Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA.

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http://www.nature.com/articles/ng842
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http://dx.doi.org/10.1038/ng842DOI Listing
March 2002