The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases : identification of a somatic mosaicism for a POU3F4 missense mutation

Elucidation of the Molecular Genetic Basis of Inherited Hearing Impairment.

Luijendijk, M.W.J.

January 2006

Item does not contain fulltextHearing loss is the most common sensory disorder in the human populati...

Hereditary Hearing Impairment. Clinical and genetic aspects of DFNA3, DFNB8/10, DFNX4, Muckle-Wells syndrome and otosclerosis

Weegerink, N.J.D.

January 2013

Contains fulltext : 105822.pdf (publisher's version ) (Open Access)Radboud Univers...

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Agnieszka Pollak
Urszula Lechowicz
Anna Kędra
Piotr Stawiński
Małgorzata Rydzanicz
Mariusz Furmanek
Małgorzata Brzozowska
Maciej Mrówka
Henryk Skarżyński
Piotr H Skarżyński
Monika Ołdak
Rafał Płoski

January 2016

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) ident...

RESEARCH ARTICLE The Molecular Basis of X^Linked Deafness Type 3 (DFN3) in Two Sporadic Cases: Identification of a

September 2016

The following full text is a publisher's version. For additional information about this publica...

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee, H.K.
Song, M.H.
Kang, M.
Lee, J.T.
Kong, K.A.
Choi, S.J.
Lee, K.Y.
Venselaar, H.
Vriend, G.
Lee, W.S.
Park, H.J.
Kwon, T.K.
Bok, J.
Kim, U.K.

January 2009

Contains fulltext : 75318.pdf (publisher's version ) (Closed access)X-linked deafn...

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

de Kok, Yvette
Vossenaar, Erik
Cremers, Cor
Dahl, Niklas
Laporte, Jocelyn
Hu, Ling
Lacombe, Didier
Fischel-Ghodsian, Nathan
Friedman, Rick
Parnes, Lorne
Thorpe, Peter
Bitner-Glindzicz, Maria
Pander, Hans-Jürgen
Heilbronner, Helmut
Graveline, Johanna
den Dunnen, Johan
Brunner, Han
Ropers, Hans-Hilger
Cremers, Frans

January 1996

Small mutations in the POU domain gene POU3F4 were recently shown to cause X-linked deafness type 3 ...

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Kok, Y.J.M. de
Merkx, G.F.M.
Maarel, S.M. van der
Huber, I.
Malcolm, S.
Ropers, H.-H.
Cremers, F.P.M.

January 1995

Contains fulltext : 21617___.PDF (publisher's version ) (Open Access

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

Kok, Y.J.M. de
Maarel, S.M. van der
Bitner-Glindzicz, M.
Huber-Bach, I.
Monaco, A.P.
Malcolm, S.
Pembrey, M.E.
Ropers, H.H.
Cremers, F.P.M.

January 1995

Contains fulltext : 21211___.PDF (publisher's version ) (Open Access

Molecular genetics of X-linked deafness

Bitner-Glindzicz, Maria A.K.

January 1996

Non-syndromic X-linked deafness is genetically heterogeneous but clinical and radiological studies h...

Novel Domain-Specific Pou3F4 Mutations Are Associated With X-Linked Deafness: Examples From Different Populations

Bademci, Guney
Lasisi, Akeem O
Yariz, Kemal O
Montenegro, Paola
Menendez, Ibis
Vinueza, Rodrigo
Paredes, Rosario
Moreta, Germania
Subasioglu, Asli
Blanton, Susan
Fitoz, Suat
Incesulu, Armagan
Sennaroglu, Levent
Tekin, Mustafa

January 2015

Background Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterize...

Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.

복진웅
송미현
최재영

January 2010

X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused ...

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Collin, R.W.J.
Chellappa, R.
Pauw, R.J.
Vriend, G.
Oostrik, J.
Drunen, W.J. van
Huygen, P.L.M.
Admiraal, R.J.C.
Hoefsloot, L.H.
Cremers, F.P.M.
Xiang, M.
Cremers, C.W.R.J.
Kremer, H.

January 2008

Contains fulltext : 69373_2.pdf (publisher's version ) (Closed access) ...

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Ali M. Waryah
Zubair M. Ahmed
Daniel I. Choo
Robert A. Sisk
Munir A. Binder
Mohsin Shahzad
Shaheen N. Khan
Thomas B. Friedman
Sheikh Riazuddin

August 2016

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsy...

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Wan Du
Ming-Kun Han
Da-Yong Wang
Bing Han
Liang Zong
Lan Lan
Ju Yang
Qi Shen
Lin-Yi Xie
Lan Yu
Jing Guan
Qiu-Ju Wang

January 2017

Background: The molecular genetic research showed the association between X-linked hearing loss and ...

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber, I
Bitner-Glindzicz, M
de Kok, Y
van der Maarel, S
Ishikawa-Brush, Y
Monaco, A
Robinson, D
Malcolm, S
Pembrey, M
Brunner, H

January 1994

We have found that the microsatellite marker AFM207zg5 (DXS995) maps to all previously described del...

Elucidation of the Molecular Genetic Basis of Inherited Hearing Impairment.

Luijendijk, M.W.J.

January 2006

Item does not contain fulltextHearing loss is the most common sensory disorder in the human populati...

Hereditary Hearing Impairment. Clinical and genetic aspects of DFNA3, DFNB8/10, DFNX4, Muckle-Wells syndrome and otosclerosis

Weegerink, N.J.D.

January 2013

Contains fulltext : 105822.pdf (publisher's version ) (Open Access)Radboud Univers...

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Agnieszka Pollak
Urszula Lechowicz
Anna Kędra
Piotr Stawiński
Małgorzata Rydzanicz
Mariusz Furmanek
Małgorzata Brzozowska
Maciej Mrówka
Henryk Skarżyński
Piotr H Skarżyński
Monika Ołdak
Rafał Płoski

January 2016

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) ident...

RESEARCH ARTICLE The Molecular Basis of X^Linked Deafness Type 3 (DFN3) in Two Sporadic Cases: Identification of a

September 2016

The following full text is a publisher's version. For additional information about this publica...

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee, H.K.
Song, M.H.
Kang, M.
Lee, J.T.
Kong, K.A.
Choi, S.J.
Lee, K.Y.
Venselaar, H.
Vriend, G.
Lee, W.S.
Park, H.J.
Kwon, T.K.
Bok, J.
Kim, U.K.

January 2009

Contains fulltext : 75318.pdf (publisher's version ) (Closed access)X-linked deafn...

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

de Kok, Yvette
Vossenaar, Erik
Cremers, Cor
Dahl, Niklas
Laporte, Jocelyn
Hu, Ling
Lacombe, Didier
Fischel-Ghodsian, Nathan
Friedman, Rick
Parnes, Lorne
Thorpe, Peter
Bitner-Glindzicz, Maria
Pander, Hans-Jürgen
Heilbronner, Helmut
Graveline, Johanna
den Dunnen, Johan
Brunner, Han
Ropers, Hans-Hilger
Cremers, Frans

January 1996

Small mutations in the POU domain gene POU3F4 were recently shown to cause X-linked deafness type 3 ...

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Kok, Y.J.M. de
Merkx, G.F.M.
Maarel, S.M. van der
Huber, I.
Malcolm, S.
Ropers, H.-H.
Cremers, F.P.M.

January 1995

Contains fulltext : 21617___.PDF (publisher's version ) (Open Access

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

Kok, Y.J.M. de
Maarel, S.M. van der
Bitner-Glindzicz, M.
Huber-Bach, I.
Monaco, A.P.
Malcolm, S.
Pembrey, M.E.
Ropers, H.H.
Cremers, F.P.M.

January 1995

Contains fulltext : 21211___.PDF (publisher's version ) (Open Access

Molecular genetics of X-linked deafness

Bitner-Glindzicz, Maria A.K.

January 1996

Non-syndromic X-linked deafness is genetically heterogeneous but clinical and radiological studies h...

Novel Domain-Specific Pou3F4 Mutations Are Associated With X-Linked Deafness: Examples From Different Populations

Bademci, Guney
Lasisi, Akeem O
Yariz, Kemal O
Montenegro, Paola
Menendez, Ibis
Vinueza, Rodrigo
Paredes, Rosario
Moreta, Germania
Subasioglu, Asli
Blanton, Susan
Fitoz, Suat
Incesulu, Armagan
Sennaroglu, Levent
Tekin, Mustafa

January 2015

Background Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterize...

Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.

복진웅
송미현
최재영

January 2010

X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused ...

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Collin, R.W.J.
Chellappa, R.
Pauw, R.J.
Vriend, G.
Oostrik, J.
Drunen, W.J. van
Huygen, P.L.M.
Admiraal, R.J.C.
Hoefsloot, L.H.
Cremers, F.P.M.
Xiang, M.
Cremers, C.W.R.J.
Kremer, H.

January 2008

Contains fulltext : 69373_2.pdf (publisher's version ) (Closed access) ...

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Ali M. Waryah
Zubair M. Ahmed
Daniel I. Choo
Robert A. Sisk
Munir A. Binder
Mohsin Shahzad
Shaheen N. Khan
Thomas B. Friedman
Sheikh Riazuddin

August 2016

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsy...

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Wan Du
Ming-Kun Han
Da-Yong Wang
Bing Han
Liang Zong
Lan Lan
Ju Yang
Qi Shen
Lin-Yi Xie
Lan Yu
Jing Guan
Qiu-Ju Wang

January 2017

Background: The molecular genetic research showed the association between X-linked hearing loss and ...

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber, I
Bitner-Glindzicz, M
de Kok, Y
van der Maarel, S
Ishikawa-Brush, Y
Monaco, A
Robinson, D
Malcolm, S
Pembrey, M
Brunner, H

January 1994

We have found that the microsatellite marker AFM207zg5 (DXS995) maps to all previously described del...

Elucidation of the Molecular Genetic Basis of Inherited Hearing Impairment.

Luijendijk, M.W.J.

January 2006

Item does not contain fulltextHearing loss is the most common sensory disorder in the human populati...

Hereditary Hearing Impairment. Clinical and genetic aspects of DFNA3, DFNB8/10, DFNX4, Muckle-Wells syndrome and otosclerosis

Weegerink, N.J.D.

January 2013

Contains fulltext : 105822.pdf (publisher's version ) (Open Access)Radboud Univers...

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Agnieszka Pollak
Urszula Lechowicz
Anna Kędra
Piotr Stawiński
Małgorzata Rydzanicz
Mariusz Furmanek
Małgorzata Brzozowska
Maciej Mrówka
Henryk Skarżyński
Piotr H Skarżyński
Monika Ołdak
Rafał Płoski

January 2016

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) ident...

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases : identification of a somatic mosaicism for a POU3F4 missense mutation

Abstract

Extracted data

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases : identification of a somatic mosaicism for a POU3F4 missense mutation

Abstract

Extracted data

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