[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]

Cremers, C.W.R.J.
Plantinga, R.F.
Kremer, H.

January 2007

An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...

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...

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

GRIFA A
WAGNER CA
D'AMBROSIO L
MELCHIONDA S
BERNARDI F.
LOPEZ-BIGAS N
RABIONET R
ARBONES M
MONICA MD
ESTIVILL X
ZELANTE L
LANG F
GASPARINI P.

January 1999

The first mutations in GJB6 causing nonsyndromic autosomal dominant deafness at the DFNA3 locu

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

Pennings, R.J.E.
Cryns, K.
Huygen, P.L.M.
Camp, G. van
Cremers, C.W.R.J.

January 2003

Item does not contain fulltextDFNA6/-14 is a nonsyndromic, autosomal dominant form of hearing impair...

Phaenotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhoerigkeit [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]

Toth, T.
Kupka, S.
Nuernberg, P.
Thiele, H.
Zenner, H.R.
Sziklai, I.
Pfister, M.

February 2004

Background. Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-t...

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova, I.N.
Camp, G. van
Bom, S.J.H.
Brown, D.J.
Cryns, K.
Wan, A.T. de
Erson, A.E.
Flothmann, K.
Kunst, H.P.M.
Kurnool, P.
Sivakumaran, T.A.
Cremers, C.W.R.J.
Leal, S.M.
Burmeister, M.
Lesperance, M.M.

January 2001

Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is ...

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Bespalova, I. N.

October 2001

Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is ...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Cryns, K.
Pfister, M.
Pennings, R.J.E.
Bom, S.J.H.
Flothmann, K.
Caethoven, G.
Kremer, H.
Schatteman, I.
Koeln, K.A.
Toth, T.
Kupka, S.
Blin, N.
Nuernberg, P.
Thiele, H.
van de Heyning, P.H.
Reardon, W.
Stephens, D.
Cremers, C.W.R.J.
Smith, R.J.H.
Van Camp, G.

May 2002

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns, K.
Pfister, M.
Pennings, R.J.E.
Bom, S.J.H.
Flothmann, K.
Caethoven, G.
Kremer, J.M.J.
Schatteman, I.
Koln, K.A.
Toth, T.
Kupka, S.
Blin, N.
Nurnberg, P.
Thiele, H.
Heyning, P. van de
Reardon, W.
Stephens, D.
Cremers, C.W.R.J.
Smith, R.J.H.
Camp, G. van

January 2002

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci...

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Pennings, R.J.E.
Bom, S.J.H.
Cryns, K.
Flothmann, K.
Huygen, P.L.M.
Kremer, J.M.J.
Camp, G. van
Cremers, C.W.R.J.

January 2003

Item does not contain fulltextOBJECTIVE: To assess the audiometric profile and speech recognition ch...

Autoimmune Disease in a DFNA6/14/38 Family carrying a Novel Missense Mutation in WFS1

Michael S. Hildebr
Jessica L. Sorensen
Maren Jensen
William J. Kimberling
Richard J. H. Smith

October 2015

Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attr...

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.

Ensink, R.J.H.
Huygen, P.L.M.
Snoeckx, R.L.
Caethoven, G.
Camp, G. van
Cremers, C.W.R.J.

January 2001

Item does not contain fulltextWe present a Dutch family with autosomal dominantly inherited mid-freq...

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer, Lut
Huizing, Egbert H
Verstreken, Margriet
van Zuijlen, Diederick
Wauters, Jan G
Bossuyt, Paul J
Van de Heyning, Paul
McGuirt, Wyman T
Smith, Richard J H
Willems, Patrick J
Legan, P Kevin
Richardson, Guy P
Van Camp, Guy

October 1998

Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more th...

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx, R.L.
Kremer, J.M.J.
Ensink, R.J.H.
Flothmann, K.
Brouwer, A.P.M. de
Smith, R.J.H.
Cremers, C.W.R.J.
Camp, G. van

January 2004

BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. ...

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

Bom, S.J.H.
Camp, G. van
Cryns, K.
Admiraal, R.J.C.
Huygen, P.L.M.
Cremers, C.W.R.J.

January 2002

OBJECTIVE: To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineu...

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]

Cremers, C.W.R.J.
Plantinga, R.F.
Kremer, H.

January 2007

An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...

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...

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

GRIFA A
WAGNER CA
D'AMBROSIO L
MELCHIONDA S
BERNARDI F.
LOPEZ-BIGAS N
RABIONET R
ARBONES M
MONICA MD
ESTIVILL X
ZELANTE L
LANG F
GASPARINI P.

January 1999

The first mutations in GJB6 causing nonsyndromic autosomal dominant deafness at the DFNA3 locu

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

Pennings, R.J.E.
Cryns, K.
Huygen, P.L.M.
Camp, G. van
Cremers, C.W.R.J.

January 2003

Item does not contain fulltextDFNA6/-14 is a nonsyndromic, autosomal dominant form of hearing impair...

Phaenotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhoerigkeit [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]

Toth, T.
Kupka, S.
Nuernberg, P.
Thiele, H.
Zenner, H.R.
Sziklai, I.
Pfister, M.

February 2004

Background. Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-t...

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova, I.N.
Camp, G. van
Bom, S.J.H.
Brown, D.J.
Cryns, K.
Wan, A.T. de
Erson, A.E.
Flothmann, K.
Kunst, H.P.M.
Kurnool, P.
Sivakumaran, T.A.
Cremers, C.W.R.J.
Leal, S.M.
Burmeister, M.
Lesperance, M.M.

January 2001

Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is ...

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

Bespalova, I. N.

October 2001

Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is ...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

Cryns, K.
Pfister, M.
Pennings, R.J.E.
Bom, S.J.H.
Flothmann, K.
Caethoven, G.
Kremer, H.
Schatteman, I.
Koeln, K.A.
Toth, T.
Kupka, S.
Blin, N.
Nuernberg, P.
Thiele, H.
van de Heyning, P.H.
Reardon, W.
Stephens, D.
Cremers, C.W.R.J.
Smith, R.J.H.
Van Camp, G.

May 2002

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns, K.
Pfister, M.
Pennings, R.J.E.
Bom, S.J.H.
Flothmann, K.
Caethoven, G.
Kremer, J.M.J.
Schatteman, I.
Koln, K.A.
Toth, T.
Kupka, S.
Blin, N.
Nurnberg, P.
Thiele, H.
Heyning, P. van de
Reardon, W.
Stephens, D.
Cremers, C.W.R.J.
Smith, R.J.H.
Camp, G. van

January 2002

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci...

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Pennings, R.J.E.
Bom, S.J.H.
Cryns, K.
Flothmann, K.
Huygen, P.L.M.
Kremer, J.M.J.
Camp, G. van
Cremers, C.W.R.J.

January 2003

Item does not contain fulltextOBJECTIVE: To assess the audiometric profile and speech recognition ch...

Autoimmune Disease in a DFNA6/14/38 Family carrying a Novel Missense Mutation in WFS1

Michael S. Hildebr
Jessica L. Sorensen
Maren Jensen
William J. Kimberling
Richard J. H. Smith

October 2015

Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attr...

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.

Ensink, R.J.H.
Huygen, P.L.M.
Snoeckx, R.L.
Caethoven, G.
Camp, G. van
Cremers, C.W.R.J.

January 2001

Item does not contain fulltextWe present a Dutch family with autosomal dominantly inherited mid-freq...

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer, Lut
Huizing, Egbert H
Verstreken, Margriet
van Zuijlen, Diederick
Wauters, Jan G
Bossuyt, Paul J
Van de Heyning, Paul
McGuirt, Wyman T
Smith, Richard J H
Willems, Patrick J
Legan, P Kevin
Richardson, Guy P
Van Camp, Guy

October 1998

Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more th...

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx, R.L.
Kremer, J.M.J.
Ensink, R.J.H.
Flothmann, K.
Brouwer, A.P.M. de
Smith, R.J.H.
Cremers, C.W.R.J.
Camp, G. van

January 2004

BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. ...

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.

Bom, S.J.H.
Camp, G. van
Cryns, K.
Admiraal, R.J.C.
Huygen, P.L.M.
Cremers, C.W.R.J.

January 2002

OBJECTIVE: To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineu...

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]

Cremers, C.W.R.J.
Plantinga, R.F.
Kremer, H.

January 2007

An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-freque...

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...

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

GRIFA A
WAGNER CA
D'AMBROSIO L
MELCHIONDA S
BERNARDI F.
LOPEZ-BIGAS N
RABIONET R
ARBONES M
MONICA MD
ESTIVILL X
ZELANTE L
LANG F
GASPARINI P.

January 1999

The first mutations in GJB6 causing nonsyndromic autosomal dominant deafness at the DFNA3 locu

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

Abstract

Extracted data

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]

Abstract

Extracted data

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