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Sadaf Naz

Research Profile

Concepts & Ideas

Disorders

Deafness

Genes & Molecular Sequences

Geographic Areas

Pakistan

Physiology

Chemicals & Drugs

Procedures

DNA Mutational Analysis

Living Beings

Co-author Network

Publications

TOP 3
Rasheeda Bashir; Amara Fatima; Ayesha Imtiaz; Afzaal Alam; Sadaf Naz
The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan.
Sadaf Naz; Amara Fatima
Amplification of GC-rich DNA for high-throughput family-based genetic studies.
Ghulam Mujtaba; Ihtisham Bukhari; Amara Fatima; Sadaf Naz
A p.C343S missense mutation in PJVK causes progressive hearing loss.

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All Publications

2013: Rasheeda Bashir; Amara Fatima; Ayesha Imtiaz; Afzaal Alam; Sadaf Naz
The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan.
Biochemical genetics 2013;51(5-6):350-7.
2013: Sadaf Naz; Amara Fatima
Amplification of GC-rich DNA for high-throughput family-based genetic studies.
Molecular biotechnology 2013;53(3):345-50.
2012: Ghulam Mujtaba; Ihtisham Bukhari; Amara Fatima; Sadaf Naz
A p.C343S missense mutation in PJVK causes progressive hearing loss.
Gene 2012;504(1):98-101.
2012: Rasheeda Bashir; Amara Fatima; Sadaf Naz
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.
European journal of medical genetics 2012;55(2):99-102.
2011: Beenish Arif; Nobert Brüggemann; Amara Fatima; Anne Grünewald; Christine Klein; Katja Lohmann; Akbar Malik; Alfredo Ramirez; Arndt Rolfs; Jens Würfel; Arif Ali; Sadaf Naz
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech.
Movement disorders : official journal of the Movement Disorder Society 2011;26(12):2279-83.
2011: Sadaf Naz; Sheikh Amer Riazuddin; Paul A Sieving; Ahmad U Zafar; Shahbaz Ali; Nadeem H Butt; Tahir Farooq; J Fielding Hejtmancik; Tayyab Husnain; Shaheen N Khan; Ian M MacDonald; Sheikh Riazuddin
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
The British journal of ophthalmology 2011;95(7):1019-24.
2010: Rashid Bashir; A Fatima; Sadaf Naz
A frameshift mutation in SANS results in atypical Usher syndrome.
Clinical genetics 2010;78(6):601-3.
2010: Rasheeda Bashir; Amara Fatima; Sadaf Naz
Mutations in CLDN14 are associated with different hearing thresholds.
Journal of human genetics 2010;55(11):767-70.
2010: S Malik; N Kakar; S Hasnain; J Ahmad; E R Wilcox; Sadaf Naz
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.
Clinical genetics 2010;78(3):247-56.
2006: Sheikh Amer Riazuddin; Shaheen N Khan; Zubair M Ahmed; Manju Ghosh; Kyle Caution; Sabiha Nazli; Madhulika Kabra; Ahmad U Zafar; Kevin Chen; Sadaf Naz; Anthony Antonellis; William J Pavan; Eric Green; Edward R Wilcox; Penelope L Friedman; Robert J Morell; Sheikh Riazuddin; Thomas B Friedman
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
American journal of human genetics 2006;78(1):137-43.
2005: Inna A Belyantseva; Erich T Boger; Sadaf Naz; Gregory I Frolenkov; James R Sellers; Zubair M Ahmed; Andrew J Griffith; Thomas B Friedman
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
Nature cell biology 2005;7(2):148-56.
2004: Sadaf Naz; Andrew J Griffith; S Riazuddin; Lori L Hampton; James F Battey; Shaheen N Khan; Sheikh Amer Riazuddin; Edward R Wilcox; Thomas B Friedman
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
Journal of medical genetics 2004;41(8):591-5.
2003: Sadaf Naz; F Alasti; Alireza Mowjoodi; Sheikh Amer Riazuddin; Mohammad Hossein Sanati; Thomas B Friedman; Andrew J Griffith; Edward R Wilcox; S Riazuddin
Distinctive audiometric profile associated with DFNB21 alleles of TECTA.
Journal of medical genetics 2003;40(5):360-3.
2003: H-J Park; S Shaukat; Xue Zhong Liu; S H Hahn; Sadaf Naz; M Ghosh; H-N Kim; S-K Moon; S Abe; K Tukamoto; S Riazuddin; M Kabra; Raadnabazar Erdenetungalag; J Radnaabazar; S Khan; Arti Pandya; S-I Usami; Walter E Nance; Edward R Wilcox; Sheikh Amer Riazuddin; Andrew J Griffith
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Journal of medical genetics 2003;40(4):242-8.
2002: Sadaf Naz; Chantal M Giguere; David C Kohrman; Kristina L Mitchem; Sheikh Amer Riazuddin; Robert J Morell; Arabandi Ramesh; Srikumari Srisailpathy; Dilip Deshmukh; Sheikh Riazuddin; Andrew J Griffith; Thomas B Friedman; Richard J H Smith; Edward R Wilcox
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
American journal of human genetics 2002;71(3):632-6.
2002: Kiyoto Kurima; Linda M Peters; Yandan Yang; Sheikh Amer Riazuddin; Zubair M Ahmed; Sadaf Naz; Deidre Arnaud; Stacy Drury; Jianhong Mo; Tomoko Makishima; Manju Ghosh; P S N Menon; Dilip Deshmukh; Carole Oddoux; Harry Ostrer; Shaheen Khan; Sheikh Riazuddin; Prescott L Deininger; Lori L Hampton; Susan L Sullivan; James F Battey; Bronya J B Keats; Edward R Wilcox; Thomas B Friedman; Andrew J Griffith
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Nature genetics 2002;30(3):277-84.
2001: NA Liburd; Manju Ghosh; S Riazuddin; Sadaf Naz; S Khan; Zubair M Ahmed; Sheikh Amer Riazuddin; Y Liang; P S N Menon; T Smith; A C Smith; Ken-Shiung Chen; James R Lupski; Edward R Wilcox; L Potocki; Thomas B Friedman
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Human genetics 2001;109(5):535-41.
2001: Tamar Ben-Yosef; Marie Wattenhofer; S Riazuddin; Z M Ahmed; Hamish Scott; Jun Kudoh; Kazunori Shibuya; Stylianos E Antonarakis; Batsheva Bonne-Tamir; Uppala Radhakrishna; Sadaf Naz; Zubair M Ahmed; Sheikh Amer Riazuddin; Arti Pandya; Walter E Nance; Edward R Wilcox; Thomas B Friedman; Robert J Morell
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Journal of medical genetics 2001;38(6):396-400.
2001: Edward R Wilcox; Quianna Burton; Sadaf Naz; Sheikh Amer Riazuddin; Tenesha N Smith; B Ploplis; Inna A Belyantseva; Tamar Ben-Yosef; NA Liburd; Robert J Morell; Anne E White-Olson; Doris K Wu; Andrew J Griffith; S Riazuddin; Thomas B Friedman
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Cell 2001;104(1):165-72.
2000: Sheikh Amer Riazuddin; Caley M Castelein; Zubair M Ahmed; Anil K Lalwani; Mary Ann Mastroianni; Sadaf Naz; Tenesha N Smith; NA Liburd; Thomas B Friedman; Andrew J Griffith; S Riazuddin; Edward R Wilcox
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Nature genetics 2000;26(4):431-4.