Recurrent mutations in known autosomal recessive non-syndromic hearing loss (ARNSHL) genes in 6 Pakistani families.

Original Communication - Study of families of nonsyndromic hearing impairment segregating with mutations in Cx26 gene

P. V. Ramchander
V. U. Nandur
K. Dwarakanath
S. Vishnupriya
T. Padma

December 2004

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most common form with profound ...

Mutation analysis of GJB2 and GJB6 genes and screening of nine common dfnb loci in iranian pedigrees with autosomal recessive nonsyndromic hearing loss

Azadegan-Dehkordi, Fatemeh
Koohiyan, Mahbobeh
Shirzad, Maryam
Bahrami, Tayyeb
Yazdanpanahi, Nasrin
Tabatabaiefar, MohammadAmin
Pourpaknia, Reza
Farrokhi, Effat
Hashemzadeh-Chaleshtori, Morteza

January 2019

Background: Hearing loss (HL) is one of the most common sensory disorders (1/1000). Various studies ...

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

Oscar Diaz-Horta
Duygu Duman
Joseph Foster
Aslı Sırmacı
Michael Gonzalez
Nejat Mahdieh
Nikou Fotouhi
Mortaza Bonyadi
Filiz Başak Cengiz
Ibis Menendez
Rick H Ulloa
Yvonne J K Edwards
Stephan Züchner
Susan Blanton
Mustafa Tekin

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss ...

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Shafique, Sobia
Saima Siddiqi, Saima
Schraders, Margit
Oostrik, Jaap
Ayub, Humaira
Bilal, Ammad
Ajmal, Muhammad
Seco, Cecilia Zazo
Tim M. Strom, Tim M.
Mansoor, Atika
Mazhar, Kehkashan
Shah, Syed Tahir A.
Hussain, Alamdar
Azam, Maleeha
Kremer, Hannie
Qamar, Raheel

June 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Genetic spectrum of autosomal recessive non-syndromic hearing loss in pakistani families

Shafique, S.
Siddiqi, S.
Schraders, M.
Oostrik, J.
Ayub, H.
Bilal, A.
Ajmal, M.
Seco, C.Z.
Strom, T.M.
Mansoor, A.
Mazhar, K.
Shah, S.T.
Hussain, A.
Azam, M.
Kremer, H.
Qamar, R.

January 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique, S.
Siddiqi, S.
Schraders, M.
Oostrik, J.
Ayub, H.
Bilal, A.
Ajmal, M.
Seco, C.Z.
Strom, T.M.
Mansoor, A.
Mazhar, K.
Shah, S.T.
Hussain, A.
Azam, M.
Kremer, H.
Qamar, R.

January 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Novel mutations identified in known genes for autosomal recessive non-syndromic hearing loss (ARNSHL) in the current study.

Sobia Shafique (581117)
Saima Siddiqi (581118)
Margit Schraders (581119)
Jaap Oostrik (581120)
Humaira Ayub (581121)
Ammad Bilal (581122)
Muhammad Ajmal (581123)
Celia Zazo Seco (581124)
Tim M. Strom (118716)
Atika Mansoor (581125)
Kehkashan Mazhar (581126)
Syed Tahir A. Shah (581127)
Alamdar Hussain (323649)
Maleeha Azam (581128)
Hannie Kremer (493696)
Raheel Qamar (348807)

June 2014

Acc. No., accession number of reference sequence; Chr, chromosome; Ex, exon; EVS, exome variant s...

Genetic Spectrum of Autosomal Recessive Non- Syndromic Hearing Loss in Pakistani Families

Sobia Shafique
Saima Siddiqi
Margit Schraders
Jaap Oostrik
Humaira Ayub
Ammad Bilal
Muhammad Ajmal
Celia Zazo Seco
Tim M. Strom
Atika Mansoor
Kehkashan Mazhar
Syed Tahir
A. Shah
Alamdar Hussain
Maleeha Azam
Hannie Kremer
Raheel Qamar

August 2016

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Spectrum of recurrent GJB2 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss (ARNSHL).

Sobia Shafique (581117)
Saima Siddiqi (581118)
Margit Schraders (581119)
Jaap Oostrik (581120)
Humaira Ayub (581121)
Ammad Bilal (581122)
Muhammad Ajmal (581123)
Celia Zazo Seco (581124)
Tim M. Strom (118716)
Atika Mansoor (581125)
Kehkashan Mazhar (581126)
Syed Tahir A. Shah (581127)
Alamdar Hussain (323649)
Maleeha Azam (581128)
Hannie Kremer (493696)
Raheel Qamar (348807)

June 2014

As reference sequence NM_004004.5 was employed. EVS, exome variant server;#The pathogenici...

Number of Variants Detected in the Probands of the 12 Families.

Chen-Chi Wu (212810)
Yin-Hung Lin (381598)
Ying-Chang Lu (212808)
Pei-Jer Chen (53402)
Wei-Shiung Yang (28865)
Chuan-Jen Hsu (212848)
Pei-Lung Chen (231490)

February 2013

SNP, single nucleotide polymorphism; ADNSHL, autosomal dominant nonsyndromic hearing loss; ARNSHL...

Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Ganapathy, Aparna
Pandey, Nishtha
Srisailapathy, Srikumari CR
Jalvi, Rajeev
Malhotra, Vikas
Venkatappa, Mohan
Chatterjee, Arunima
Sharma, Meenakshi
Santhanam, Rekha
Chadha, Shelly
Ramesh, Arabandi
Agarwal, Arun K.
Rangasayee, Raghunath R.
Anand, Anuranjan

January 2014

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary ...

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Aparna Ganapathy
Nishtha Pandey
C R Srikumari Srisailapathy
Rajeev Jalvi
Vikas Malhotra
Mohan Venkatappa
Arunima Chatterjee
Meenakshi Sharma
Rekha Santhanam
Shelly Chadha
Arabandi Ramesh
Arun K Agarwal
Raghunath R Rangasayee
Anuranjan Anand

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary ...

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Doll, Julia
Vona, Barbara
Schnapp, Linda
Rüschendorf, Franz
Khan, Imran
Khan, Saadullah
Muhammad, Noor
Alam Khan, Sher
Nawaz, Hamed
Khan, Ajmal
Ahmad, Naseer
Kolb, Susanne M.
Kühlewein, Laura
Labonne, Jonathan D. J.
Layman, Lawrence C.
Hofrichter, Michaela A. H.
Röder, Tabea
Dittrich, Marcus
Müller, Tobias
Graves, Tyler D.
Kong, Il-Keun
Nanda, Indrajit
Kim, Hyung-Goo
Haaf, Thomas

January 2020

The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably ac...

Comprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort

Bademci, Guney
Foster, Joseph
Mahdieh, Nejat
Bonyadi, Mortaza
Duman, Duygu
Cengiz, F.Basak
Menendez, Ibis
Horta, Oscar Diaz
Shirkavand, Atefeh
Zeinali, Sirous
Subasioglu, Asli
Tokgoz-Yilmaz, Suna
Hernandez, Fabiola Huesca
de la Luz Arenas Sordo, Maria
Dominguez-Aburto, Juan
Hernandez-Zamora, Edgar
Montenegro, Paola
Paredes, Rosario
Moreta, Germania
Vinueza, Rodrigo
Villegas, Franklin
Mendoza Benitez, Santiago
Guo, Shengru
Bozan, Nazim
Tos, Tulay
Incesulu, Armagan
Sennaroglu, Gonca
Blanton, Susan H.
Ozturkmen Akay, Hatice
Yildirim-Baylan, Muzeyyen
Tekin, Mustafa

January 2016

Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of gene...

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Tahir Atik
Huseyin Onay
Ayca Aykut
Guney Bademci
Tayfun Kirazli
Mustafa Tekin
Ferda Ozkinay

Comprehensive genetic testing has the potential to become the standard of care for individuals with ...

Original Communication - Study of families of nonsyndromic hearing impairment segregating with mutations in Cx26 gene

P. V. Ramchander
V. U. Nandur
K. Dwarakanath
S. Vishnupriya
T. Padma

December 2004

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most common form with profound ...

Mutation analysis of GJB2 and GJB6 genes and screening of nine common dfnb loci in iranian pedigrees with autosomal recessive nonsyndromic hearing loss

Azadegan-Dehkordi, Fatemeh
Koohiyan, Mahbobeh
Shirzad, Maryam
Bahrami, Tayyeb
Yazdanpanahi, Nasrin
Tabatabaiefar, MohammadAmin
Pourpaknia, Reza
Farrokhi, Effat
Hashemzadeh-Chaleshtori, Morteza

January 2019

Background: Hearing loss (HL) is one of the most common sensory disorders (1/1000). Various studies ...

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

Oscar Diaz-Horta
Duygu Duman
Joseph Foster
Aslı Sırmacı
Michael Gonzalez
Nejat Mahdieh
Nikou Fotouhi
Mortaza Bonyadi
Filiz Başak Cengiz
Ibis Menendez
Rick H Ulloa
Yvonne J K Edwards
Stephan Züchner
Susan Blanton
Mustafa Tekin

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss ...

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Shafique, Sobia
Saima Siddiqi, Saima
Schraders, Margit
Oostrik, Jaap
Ayub, Humaira
Bilal, Ammad
Ajmal, Muhammad
Seco, Cecilia Zazo
Tim M. Strom, Tim M.
Mansoor, Atika
Mazhar, Kehkashan
Shah, Syed Tahir A.
Hussain, Alamdar
Azam, Maleeha
Kremer, Hannie
Qamar, Raheel

June 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Genetic spectrum of autosomal recessive non-syndromic hearing loss in pakistani families

Shafique, S.
Siddiqi, S.
Schraders, M.
Oostrik, J.
Ayub, H.
Bilal, A.
Ajmal, M.
Seco, C.Z.
Strom, T.M.
Mansoor, A.
Mazhar, K.
Shah, S.T.
Hussain, A.
Azam, M.
Kremer, H.
Qamar, R.

January 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique, S.
Siddiqi, S.
Schraders, M.
Oostrik, J.
Ayub, H.
Bilal, A.
Ajmal, M.
Seco, C.Z.
Strom, T.M.
Mansoor, A.
Mazhar, K.
Shah, S.T.
Hussain, A.
Azam, M.
Kremer, H.
Qamar, R.

January 2014

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Novel mutations identified in known genes for autosomal recessive non-syndromic hearing loss (ARNSHL) in the current study.

Sobia Shafique (581117)
Saima Siddiqi (581118)
Margit Schraders (581119)
Jaap Oostrik (581120)
Humaira Ayub (581121)
Ammad Bilal (581122)
Muhammad Ajmal (581123)
Celia Zazo Seco (581124)
Tim M. Strom (118716)
Atika Mansoor (581125)
Kehkashan Mazhar (581126)
Syed Tahir A. Shah (581127)
Alamdar Hussain (323649)
Maleeha Azam (581128)
Hannie Kremer (493696)
Raheel Qamar (348807)

June 2014

Acc. No., accession number of reference sequence; Chr, chromosome; Ex, exon; EVS, exome variant s...

Genetic Spectrum of Autosomal Recessive Non- Syndromic Hearing Loss in Pakistani Families

Sobia Shafique
Saima Siddiqi
Margit Schraders
Jaap Oostrik
Humaira Ayub
Ammad Bilal
Muhammad Ajmal
Celia Zazo Seco
Tim M. Strom
Atika Mansoor
Kehkashan Mazhar
Syed Tahir
A. Shah
Alamdar Hussain
Maleeha Azam
Hannie Kremer
Raheel Qamar

August 2016

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Paki...

Spectrum of recurrent GJB2 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss (ARNSHL).

Sobia Shafique (581117)
Saima Siddiqi (581118)
Margit Schraders (581119)
Jaap Oostrik (581120)
Humaira Ayub (581121)
Ammad Bilal (581122)
Muhammad Ajmal (581123)
Celia Zazo Seco (581124)
Tim M. Strom (118716)
Atika Mansoor (581125)
Kehkashan Mazhar (581126)
Syed Tahir A. Shah (581127)
Alamdar Hussain (323649)
Maleeha Azam (581128)
Hannie Kremer (493696)
Raheel Qamar (348807)

June 2014

As reference sequence NM_004004.5 was employed. EVS, exome variant server;#The pathogenici...

Number of Variants Detected in the Probands of the 12 Families.

Chen-Chi Wu (212810)
Yin-Hung Lin (381598)
Ying-Chang Lu (212808)
Pei-Jer Chen (53402)
Wei-Shiung Yang (28865)
Chuan-Jen Hsu (212848)
Pei-Lung Chen (231490)

February 2013

SNP, single nucleotide polymorphism; ADNSHL, autosomal dominant nonsyndromic hearing loss; ARNSHL...

Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Ganapathy, Aparna
Pandey, Nishtha
Srisailapathy, Srikumari CR
Jalvi, Rajeev
Malhotra, Vikas
Venkatappa, Mohan
Chatterjee, Arunima
Sharma, Meenakshi
Santhanam, Rekha
Chadha, Shelly
Ramesh, Arabandi
Agarwal, Arun K.
Rangasayee, Raghunath R.
Anand, Anuranjan

January 2014

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary ...

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Aparna Ganapathy
Nishtha Pandey
C R Srikumari Srisailapathy
Rajeev Jalvi
Vikas Malhotra
Mohan Venkatappa
Arunima Chatterjee
Meenakshi Sharma
Rekha Santhanam
Shelly Chadha
Arabandi Ramesh
Arun K Agarwal
Raghunath R Rangasayee
Anuranjan Anand

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary ...

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Doll, Julia
Vona, Barbara
Schnapp, Linda
Rüschendorf, Franz
Khan, Imran
Khan, Saadullah
Muhammad, Noor
Alam Khan, Sher
Nawaz, Hamed
Khan, Ajmal
Ahmad, Naseer
Kolb, Susanne M.
Kühlewein, Laura
Labonne, Jonathan D. J.
Layman, Lawrence C.
Hofrichter, Michaela A. H.
Röder, Tabea
Dittrich, Marcus
Müller, Tobias
Graves, Tyler D.
Kong, Il-Keun
Nanda, Indrajit
Kim, Hyung-Goo
Haaf, Thomas

January 2020

The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably ac...

Comprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort

Bademci, Guney
Foster, Joseph
Mahdieh, Nejat
Bonyadi, Mortaza
Duman, Duygu
Cengiz, F.Basak
Menendez, Ibis
Horta, Oscar Diaz
Shirkavand, Atefeh
Zeinali, Sirous
Subasioglu, Asli
Tokgoz-Yilmaz, Suna
Hernandez, Fabiola Huesca
de la Luz Arenas Sordo, Maria
Dominguez-Aburto, Juan
Hernandez-Zamora, Edgar
Montenegro, Paola
Paredes, Rosario
Moreta, Germania
Vinueza, Rodrigo
Villegas, Franklin
Mendoza Benitez, Santiago
Guo, Shengru
Bozan, Nazim
Tos, Tulay
Incesulu, Armagan
Sennaroglu, Gonca
Blanton, Susan H.
Ozturkmen Akay, Hatice
Yildirim-Baylan, Muzeyyen
Tekin, Mustafa

January 2016

Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of gene...

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Tahir Atik
Huseyin Onay
Ayca Aykut
Guney Bademci
Tayfun Kirazli
Mustafa Tekin
Ferda Ozkinay

Comprehensive genetic testing has the potential to become the standard of care for individuals with ...

Original Communication - Study of families of nonsyndromic hearing impairment segregating with mutations in Cx26 gene

P. V. Ramchander
V. U. Nandur
K. Dwarakanath
S. Vishnupriya
T. Padma

December 2004

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most common form with profound ...

Mutation analysis of GJB2 and GJB6 genes and screening of nine common dfnb loci in iranian pedigrees with autosomal recessive nonsyndromic hearing loss

Azadegan-Dehkordi, Fatemeh
Koohiyan, Mahbobeh
Shirzad, Maryam
Bahrami, Tayyeb
Yazdanpanahi, Nasrin
Tabatabaiefar, MohammadAmin
Pourpaknia, Reza
Farrokhi, Effat
Hashemzadeh-Chaleshtori, Morteza

January 2019

Background: Hearing loss (HL) is one of the most common sensory disorders (1/1000). Various studies ...

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

Oscar Diaz-Horta
Duygu Duman
Joseph Foster
Aslı Sırmacı
Michael Gonzalez
Nejat Mahdieh
Nikou Fotouhi
Mortaza Bonyadi
Filiz Başak Cengiz
Ibis Menendez
Rick H Ulloa
Yvonne J K Edwards
Stephan Züchner
Susan Blanton
Mustafa Tekin

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss ...

Recurrent mutations in known autosomal recessive non-syndromic hearing loss (ARNSHL) genes in 6 Pakistani families.

Abstract

Extracted data

Recurrent mutations in known autosomal recessive non-syndromic hearing loss (ARNSHL) genes in 6 Pakistani families.

Abstract

Extracted data

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