共 5 条
[1]
FRANCOIS J., 1961, HEREDITY OPHTHALMOLO
[2]
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
[J].
Kohl, S
;
Varsanyi, B
;
Antunes, GA
;
Baumann, B
;
Hoyng, CB
;
Jägle, H
;
Rosenberg, T
;
Kellner, U
;
Lorenz, B
;
Salati, R
;
Jurklies, B
;
Farkas, A
;
Andreasson, S
;
Weleber, RG
;
Jacobson, SG
;
Rudolph, G
;
Castellan, C
;
Dollfus, H
;
Legius, E
;
Anastasi, M
;
Bitoun, P
;
Lev, D
;
Sieving, PA
;
Munier, FL
;
Zrenner, E
;
Sharpe, LT
;
Cremers, FPM
;
Wissinger, B
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2005, 13 (03)
:302-308

Kohl, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Varsanyi, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Antunes, GA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Baumann, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Hoyng, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Jägle, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Rosenberg, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Kellner, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Lorenz, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Salati, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Jurklies, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Farkas, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Andreasson, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Weleber, RG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Jacobson, SG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Rudolph, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Castellan, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Dollfus, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Legius, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Anastasi, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Bitoun, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Lev, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Sieving, PA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Munier, FL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Zrenner, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Sharpe, LT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Cremers, FPM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany

Wissinger, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Mol Genet Labor, Abt Pathophysiol Sehens & Neuroophthalmol, D-72076 Tubingen, Germany
[3]
Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
[J].
Thiadens, Alberta A. H. J.
;
Roosing, Susanne
;
Collin, Rob W. J.
;
van Moll-Ramirez, Norka
;
van Lith-Verhoeven, Janneke J. C.
;
van Schooneveld, Mary J.
;
den Hollander, Anneke I.
;
van den Born, L. Ingeborgh
;
Hoyng, Carel B.
;
Cremers, Frans P. M.
;
Klaver, Caroline C. W.
.
OPHTHALMOLOGY,
2010, 117 (04)
:825-U200

Thiadens, Alberta A. H. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Roosing, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Collin, Rob W. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Moll-Ramirez, Norka
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Care Educ & Serv Visually Impaired People, Grave, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Lith-Verhoeven, Janneke J. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Schooneveld, Mary J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

den Hollander, Anneke I.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van den Born, L. Ingeborgh
论文数: 0 引用数: 0
h-index: 0
机构:
Rotterdam Eye Hosp, Rotterdam, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Hoyng, Carel B.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Care Educ & Serv Visually Impaired People, Grave, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Klaver, Caroline C. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
Erasmus MC, Dept Epidemiol, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
[4]
Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
[J].
Thiadens, Alberta A. H. J.
;
Slingerland, Niki W. R.
;
Roosing, Susanne
;
van Schooneveld, Mary J.
;
van Lith-Verhoeven, Janneke J. C.
;
van Moll-Ramirez, Norka
;
van den Born, L. Ingeborgh
;
Hoyng, Carel B.
;
Cremers, Frans P. M.
;
Klaver, Caroline C. W.
.
OPHTHALMOLOGY,
2009, 116 (10)
:1984-1989

Thiadens, Alberta A. H. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Slingerland, Niki W. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Roosing, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Schooneveld, Mary J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Ophthalmol, Utrecht, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Lith-Verhoeven, Janneke J. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van Moll-Ramirez, Norka
论文数: 0 引用数: 0
h-index: 0
机构:
Sensis, Ctr Care Educ & Serv Visually Impaired People, Grave, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

van den Born, L. Ingeborgh
论文数: 0 引用数: 0
h-index: 0
机构:
Rotterdam Eye Hosp, Rotterdam, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Hoyng, Carel B.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands

Klaver, Caroline C. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
Erasmus MC, Dept Epidemiol & Biostat, NL-3000 CA Rotterdam, Netherlands Erasmus MC, Dept Ophthalmol, NL-3000 CA Rotterdam, Netherlands
[5]
CNGA3 mutations in hereditary cone photoreceptor disorders
[J].
Wissinger, B
;
Gamer, D
;
Jägle, H
;
Giorda, R
;
Marx, T
;
Mayer, S
;
Tippmann, S
;
Broghammer, M
;
Jurklies, B
;
Rosenberg, T
;
Jacobson, SG
;
Sener, EC
;
Tatlipinar, S
;
Hoyng, CB
;
Castellan, C
;
Bitoun, P
;
Andreasson, S
;
Rudolph, G
;
Kellner, U
;
Lorenz, B
;
Wolff, G
;
Verellen-Dumoulin, C
;
Schwartz, M
;
Cremers, FPM
;
Apfelstedt-ylla, E
;
Zrenner, E
;
Salati, R
;
Sharpe, LT
;
Kohl, S
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 69 (04)
:722-737

Wissinger, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Gamer, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Jägle, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Giorda, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Marx, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Mayer, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Tippmann, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Broghammer, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Jurklies, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Rosenberg, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Jacobson, SG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Sener, EC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Tatlipinar, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Hoyng, CB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Castellan, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Bitoun, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Andreasson, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Rudolph, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Kellner, U
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Lorenz, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Wolff, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Verellen-Dumoulin, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Schwartz, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Cremers, FPM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Apfelstedt-ylla, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Zrenner, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Salati, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Sharpe, LT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany

Kohl, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Tubingen, Augenklin, Genet Mol Lab, Abt Pathophysiol Sehens & Neurophthalmol, D-72076 Tubingen, Germany