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Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

Berger, W.
Duijnhoven, G. van
Pinckers, A.
Smits, A.
Ropers, H.H.
Cremers, F.

Publication date

January 1995

DOI

10.1007/bf00225077

ISSN

0340-6717

Abstract

Contains fulltext : 20558___.PDF (publisher's version ) (Open Access

Extracted data

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Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Boycott, Kym M.
Pearce, William G.
Musarella, Maria A.
Weleber, Richard G.
Maybaum, Tracy A.
Birch, David G.
Miyake, Yozo
Young, Rockefeller S.L.
Bech-Hansen, N. Torben

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Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

Galli, Andreas
Schinzel, Albert
Orth, Ulrike
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Craig, Ian W
Kruse, Torben
Mächler, Marco
Neugebauer, Meinhard
Bleeker-Wagemakers, Liesbeth M

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Congenital stationary night blindness is characterized by disturbed or absent night vision that is a...

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

Galli, Andreas
Schinzel, Albert
Orth, Ulrike
Fraser, Neil A
Mollica, Florindo
Craig, Ian W
Kruse, Torben
Mächler, Marco
Neugebauer, Meinhard
Bleeker-Wagemakers, Liesbeth M

March 1989

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Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Zeitz, C.
Minotti, R.
Feil, S.
Matyas, G.
Cremers, F.P.M.
Hoyng, C.B.
Berger, W.

January 2005

PURPOSE: To describe the clinical features and genetic analysis of eight X-linked congenital station...

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Rozzo C
Fossarello M
Galleri G
Miano MG
Ciccodicola A
Sole G
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January 1999

X-linked congenital stationary night blindness (CSNBX) is a hereditary non-progressive retinal disor...

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

Bijveld, M.M.C.
Florijn, R.J.
Bergen, A.A.B.
van den Born, L.I.
Kamermans, M.
Prick, L.
Riemslag, F.C.C.
van Schooneveld, M.J.
Kappers, A.M.L.
van Genderen, M.M.

January 2013

Objective: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein ty...

Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation

M. E. Ivanova
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D. S. Atarshchikov
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L. M. Balashova

August 2019

The complete form of X-linked congenital stationary night blindness (CSNB) is a rare genetic disease...

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Angela H. Kim
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Yin-Hsi Chang
Eugene Yu-Chuan Kang
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Nelson Chen
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Go Hun Seo
Hane Lee
Laura Liu
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The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

Lith-Verhoeven, J.J. van
Hoyng, C.B.
Helm, B. van den
Deutman, A.F.
Brink, H.M.A.
Kemperman, M.H.
Jong, W.H. de
Kremer, J.M.J.
Cremers, F.P.M.

January 2004

Contains fulltext : 57999.pdf (publisher's version ) (Closed access)PURPOSE: To de...

Genotyping microarray for CSNB-associated genes.

Zeitz, C.
Labs, S.
Lorenz, B.
Forster, U.
Uksti, J.
Kroes, H.Y.
Baere, E. de
Leroy, B.P.
Cremers, F.P.M.
Wittmer, M.
Genderen, M. van
Sahel, J.A.
Audo, I.
Poloschek, C.M.
Mohand-Said, S.
Fleischhauer, J.C.
Huffmeier, U.
Moskova-Doumanova, V.
Levin, A.V.
Hamel, C.P.
Leifert, D.
Munier, F.L.
Schorderet, D.F.
Zrenner, E.
Friedburg, C.
Wissinger, B.
Kohl, S.
Berger, W.

January 2009

Contains fulltext : 80582.pdf (publisher's version ) (Closed access)PURPOSE: Conge...

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

Kremer, H.
Kuyt, L.P.
Helm, B. van den
Reen, M. van
Leunissen, J.A.M.
Hamel, B.C.J.
Jansen, Cees
Mariman, E.C.M.
Frants, R.R.
Padberg, G.W.A.M.

January 1996

Contains fulltext : 24254___.PDF (publisher's version ) (Open Access

Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness

Bijveld, MMC Mieke
Florijn, RJ
Bergen, AAB
Born, LI van den
Kamermans, M
Prick, L
Riemslag, Frans C C
Schooneveld, MJ van
Kappers, AML
Genderen, Maria M Van

January 2013

Objective: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein ty...

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness

Zeitz, Christina
Minotti, Roberta
Feil, Silke
Matyas, Gabor
Cremers, Frans P M
Hoyng, Carel B
Berger, Wolfgang

March 2005

PURPOSE: To describe the clinical features and genetic analysis of eight X-linked congenital station...