ARTICLE

Pedigrees of family A and family B with autosomal recessive achromatopsia originating from the United Arab Emirates and carrying mutations in the CNGA3 gene

Yachna Ahuja (51397)
Susanne Kohl (51398)
Elias I. Traboulsi (51399)

December 2011

Family A has two branches carrying either the two heterozygous mutations R283W and G397V or being ho...

722 CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger
Daphne Gamer
Roberto Giorda
Tim Marx
Simone Mayer
Martina Broghammer
Bernhard Jurklies
Roberto Salati
Lindsay T. Sharpe
Susanne Kohl

October 2015

We recently showed that mutations in the CNGA3 gene encoding the a-subunit of the cone photoreceptor...

Deepâ intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole
Sturm, Marc
Baumann, Britta
Audo, Isabelle
Ayuso, Carmen
Bocquet, Beatrice
Branham, Kari
Brooks, Brian P.
Catalá‐mora, Jaume
Giorda, Roberto
Heckenlively, John R.
Hufnagel, Robert B.
Jacobson, Samuel G.
Kellner, Ulrich
Kitsiou‐tzeli, Sofia
Matet, Alexandre
Martorell Sampol, Loreto
Meunier, Isabelle
Rudolph, Günther
Sharon, Dror
Stingl, Katarina
Streubel, Berthold
Varsányi, Balázs
Wissinger, Bernd
Kohl, Susanne

January 2020

Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable nu...

ARTICLE

Susanne Kohl
Balazs Varsanyi
Gesine Abadin Antunes
Britta Baumann
Carel B
Thomas Rosenberg
Ulrich Kellner
Birgit Lorenz
Roberto Salati
Bernhard Jurklies
Agnes Farkas
Sten Andreasson
Richard G Weleber
Samuel G
Claudio Castellan
Helene Dollfus
Eric Legius
Pierre Bitoun
Dorit Lev
Paul A Sieving
Francis L Munier
Lindsay T Sharpe
Frans Pm Cremers
Bernd Wissinger

October 2015

CNGB3 mutations account for 50 % of all cases with autosomal recessive achromatopsi

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl, S.
Varsanyi, B.
Antunes, G.A.
Baumann, B.
Hoyng, C.B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R.G.
Jacobson, S.G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P.A.
Munier, F.L.
Zrenner, E.
Sharpe, L.T.
Cremers, F.P.M.
Wissinger, B.

January 2005

Contains fulltext : 47591.pdf (publisher's version ) (Closed access)Achromatopsia ...

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Kohl, S.
Varsanyi, B.
Antunes, G. A.
Baumann, B.
Hoyng, C. B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R. G.
Jacobson, S. G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P. A.
Munier, F. L.
Zrenner, E.
Sharpe, L. T.
Cremers, F. P.
Wissinger, B.

March 2005

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of c...

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Kohl, S.
Varsanyi, B.
Antunes, G. A.
Baumann, B.
Hoyng, C. B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R. G.
Jacobson, S. G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P. A.
Munier, F. L.
Zrenner, E.
Sharpe, L. T.
Cremers, F. P.
Wissinger, B.

March 2005

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of c...

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Mayer, Anja K
Van Cauwenbergh, Caroline
Rother, Christine
Baumann, Britta
Reuter, Peggy
De Baere, Elfride
Wissinger, Bernd
Kohl, Susanne

January 2017

Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, pho...

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam, M.
Collin, R.W.J.
Shah, S.T.
Shah, A.A.
Khan, M.I.
Hussain, A.
Sadeque, A.
Strom, T.M.
Thiadens, A.A.H.J.
Roosing, S.
Hollander, A.I. den
Cremers, F.P.M.
Qamar, R.

January 2010

Contains fulltext : 89862.pdf (publisher's version ) (Open Access)PURPOSE: To iden...

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam, M.
Collin, R.W.J.
Shah, S.T.
Shah, A.A.
Khan, M.I.
Hussain, A.
Sadeque, A.
Strom, T.M.
Thiadens, A.A.H.J.
Roosing, S.
Hollander, A.I. den
Cremers, F.P.M.
Qamar, R.

January 2010

PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromato...

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Thiadens, Alberta
Slingerland, Niki
Roosing, S
van Schooneveld, MJ
van Lith-Verhoeven, JJC
van Moll-Ramirez, N
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2009

Objective: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and ass...

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Thiadens, Alberta
Slingerland, Niki
Roosing, S
van Schooneveld, MJ
van Lith-Verhoeven, JJC
van Moll-Ramirez, N
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2009

Objective: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and ass...

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Thiadens, A.A.H.J.
Slingerland, N.W.
Roosing, S.
Schooneveld, M.J. van
Lith-Verhoeven, J.J. van
Moll-Ramirez, N.G. van
Born, L.I. van den
Hoyng, C.B.
Cremers, F.P.M.
Klaver, C.C.

January 2009

Contains fulltext : 80618thiadens.pdf (publisher's version ) (Closed access)OBJECT...

ONLINE MUTATION REPORT Achromatopsia caused by novel mutations in both CNGA3

Cngb
D M Hunt

March 2015

omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of,1 i...

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Thiadens, Alberta
Roosing, S
Collin, RWJ
van Moll-Ramirez, N
van Lith-Verhoeven, JJC
van Schooneveld, MJ
den Hollander, AI
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2010

Objective: To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the...

Pedigrees of family A and family B with autosomal recessive achromatopsia originating from the United Arab Emirates and carrying mutations in the CNGA3 gene

Yachna Ahuja (51397)
Susanne Kohl (51398)
Elias I. Traboulsi (51399)

December 2011

Family A has two branches carrying either the two heterozygous mutations R283W and G397V or being ho...

722 CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger
Daphne Gamer
Roberto Giorda
Tim Marx
Simone Mayer
Martina Broghammer
Bernhard Jurklies
Roberto Salati
Lindsay T. Sharpe
Susanne Kohl

October 2015

We recently showed that mutations in the CNGA3 gene encoding the a-subunit of the cone photoreceptor...

Deepâ intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole
Sturm, Marc
Baumann, Britta
Audo, Isabelle
Ayuso, Carmen
Bocquet, Beatrice
Branham, Kari
Brooks, Brian P.
Catalá‐mora, Jaume
Giorda, Roberto
Heckenlively, John R.
Hufnagel, Robert B.
Jacobson, Samuel G.
Kellner, Ulrich
Kitsiou‐tzeli, Sofia
Matet, Alexandre
Martorell Sampol, Loreto
Meunier, Isabelle
Rudolph, Günther
Sharon, Dror
Stingl, Katarina
Streubel, Berthold
Varsányi, Balázs
Wissinger, Bernd
Kohl, Susanne

January 2020

Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable nu...

ARTICLE

Susanne Kohl
Balazs Varsanyi
Gesine Abadin Antunes
Britta Baumann
Carel B
Thomas Rosenberg
Ulrich Kellner
Birgit Lorenz
Roberto Salati
Bernhard Jurklies
Agnes Farkas
Sten Andreasson
Richard G Weleber
Samuel G
Claudio Castellan
Helene Dollfus
Eric Legius
Pierre Bitoun
Dorit Lev
Paul A Sieving
Francis L Munier
Lindsay T Sharpe
Frans Pm Cremers
Bernd Wissinger

October 2015

CNGB3 mutations account for 50 % of all cases with autosomal recessive achromatopsi

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Kohl, S.
Varsanyi, B.
Antunes, G.A.
Baumann, B.
Hoyng, C.B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R.G.
Jacobson, S.G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P.A.
Munier, F.L.
Zrenner, E.
Sharpe, L.T.
Cremers, F.P.M.
Wissinger, B.

January 2005

Contains fulltext : 47591.pdf (publisher's version ) (Closed access)Achromatopsia ...

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Kohl, S.
Varsanyi, B.
Antunes, G. A.
Baumann, B.
Hoyng, C. B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R. G.
Jacobson, S. G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P. A.
Munier, F. L.
Zrenner, E.
Sharpe, L. T.
Cremers, F. P.
Wissinger, B.

March 2005

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of c...

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Kohl, S.
Varsanyi, B.
Antunes, G. A.
Baumann, B.
Hoyng, C. B.
Jagle, H.
Rosenberg, T.
Kellner, U.
Lorenz, B.
Salati, R.
Jurklies, B.
Farkas, A.
Andreasson, S.
Weleber, R. G.
Jacobson, S. G.
Rudolph, G.
Castellan, C.
Dollfus, H.
Legius, E.
Anastasi, M.
Bitoun, P.
Lev, D.
Sieving, P. A.
Munier, F. L.
Zrenner, E.
Sharpe, L. T.
Cremers, F. P.
Wissinger, B.

March 2005

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of c...

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Mayer, Anja K
Van Cauwenbergh, Caroline
Rother, Christine
Baumann, Britta
Reuter, Peggy
De Baere, Elfride
Wissinger, Bernd
Kohl, Susanne

January 2017

Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, pho...

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam, M.
Collin, R.W.J.
Shah, S.T.
Shah, A.A.
Khan, M.I.
Hussain, A.
Sadeque, A.
Strom, T.M.
Thiadens, A.A.H.J.
Roosing, S.
Hollander, A.I. den
Cremers, F.P.M.
Qamar, R.

January 2010

Contains fulltext : 89862.pdf (publisher's version ) (Open Access)PURPOSE: To iden...

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam, M.
Collin, R.W.J.
Shah, S.T.
Shah, A.A.
Khan, M.I.
Hussain, A.
Sadeque, A.
Strom, T.M.
Thiadens, A.A.H.J.
Roosing, S.
Hollander, A.I. den
Cremers, F.P.M.
Qamar, R.

January 2010

PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromato...

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Thiadens, Alberta
Slingerland, Niki
Roosing, S
van Schooneveld, MJ
van Lith-Verhoeven, JJC
van Moll-Ramirez, N
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2009

Objective: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and ass...

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

Thiadens, Alberta
Slingerland, Niki
Roosing, S
van Schooneveld, MJ
van Lith-Verhoeven, JJC
van Moll-Ramirez, N
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2009

Objective: To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and ass...

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Thiadens, A.A.H.J.
Slingerland, N.W.
Roosing, S.
Schooneveld, M.J. van
Lith-Verhoeven, J.J. van
Moll-Ramirez, N.G. van
Born, L.I. van den
Hoyng, C.B.
Cremers, F.P.M.
Klaver, C.C.

January 2009

Contains fulltext : 80618thiadens.pdf (publisher's version ) (Closed access)OBJECT...

ONLINE MUTATION REPORT Achromatopsia caused by novel mutations in both CNGA3

Cngb
D M Hunt

March 2015

omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of,1 i...

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

Thiadens, Alberta
Roosing, S
Collin, RWJ
van Moll-Ramirez, N
van Lith-Verhoeven, JJC
van Schooneveld, MJ
den Hollander, AI
van den Born, LI
Hoyng, CB (Carel)
Cremers, FPM
Klaver, Caroline

January 2010

Objective: To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the...

Pedigrees of family A and family B with autosomal recessive achromatopsia originating from the United Arab Emirates and carrying mutations in the CNGA3 gene

Yachna Ahuja (51397)
Susanne Kohl (51398)
Elias I. Traboulsi (51399)

December 2011

Family A has two branches carrying either the two heterozygous mutations R283W and G397V or being ho...

722 CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger
Daphne Gamer
Roberto Giorda
Tim Marx
Simone Mayer
Martina Broghammer
Bernhard Jurklies
Roberto Salati
Lindsay T. Sharpe
Susanne Kohl

October 2015

We recently showed that mutations in the CNGA3 gene encoding the a-subunit of the cone photoreceptor...

Deepâ intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole
Sturm, Marc
Baumann, Britta
Audo, Isabelle
Ayuso, Carmen
Bocquet, Beatrice
Branham, Kari
Brooks, Brian P.
Catalá‐mora, Jaume
Giorda, Roberto
Heckenlively, John R.
Hufnagel, Robert B.
Jacobson, Samuel G.
Kellner, Ulrich
Kitsiou‐tzeli, Sofia
Matet, Alexandre
Martorell Sampol, Loreto
Meunier, Isabelle
Rudolph, Günther
Sharon, Dror
Stingl, Katarina
Streubel, Berthold
Varsányi, Balázs
Wissinger, Bernd
Kohl, Susanne

January 2020

Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable nu...

Abstract

Extracted data

ARTICLE

Abstract

Extracted data

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