Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis

de la Chapelle, A.

1997 • 3,184 citations

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1997 • 473 citations

Microarray analysis of the transcriptional network controlled by the photoreceptor homeobox gene Crx

2000 • 271 citations

X linked retinoschisis.

1995 • 224 citations

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

1998 • 210 citations

Histopathology of Juvenile Retinoschisis

1968 • 192 citations

The discoidin domain family revisited: New members from prokaryotes and a homology‐based fold prediction

1998 • 190 citations

Congenital Hereditary (Juvenile X-linked) Retinoschisis

1986 • 163 citations

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

2000 • 143 citations

Genetic Diseases of the Eye

2012 • 135 citations

Visual acuity in 183 cases of X-chromosomal retinoschisis.

1973 • 126 citations

Phenotypic Expression of Juvenile X-linked Retinoschisis in Swedish Families With Different Mutations in the XLRS1 Gene

2000 • 107 citations

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave

1999 • 84 citations

The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors

1999 • 72 citations

The natural history of X-linked retinoschisis.

1998 • 69 citations

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

2001 • 68 citations

Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.

1999 • 66 citations

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

1999 • 51 citations

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

1999 • 47 citations

Detection of the Carrier State of X-Linked Retinoschisis

1988 • 47 citations

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

2000 • 45 citations

Histopathological findings of X-linked retinoschisis with neovascular glaucoma

2000 • 40 citations

A Colombian family with X-linked juvenile retinoschisis with three affected females: Finding of a frameshift mutation

1999 • 39 citations

X-Linked Retinoschisis With Point Mutations in the XLRS1 Gene

2000 • 36 citations

Isolation and characterization of the murine X-linked juvenile retinoschisis ( Rs1h ) gene

1999 • 34 citations

Clinical characteristics of 14 Japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation

2000 • 34 citations

Clinical characteristics of 14 Japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation

2000 • 28 citations

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.

1997 • 25 citations

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

1999 • 23 citations

Identification of four novel mutations of theXLRS1 gene in Japanese patients with X-linked juvenile retinoschisis

1999 • 21 citations

Improved genetic mapping of X linked retinoschisis.

1996 • 15 citations

Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene

1999 • 15 citations

Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene

1999 • 14 citations

X-Linked Juvenile Retinoschisis: Localization between <i>(DXS1195, DXS418</i><i>)</i> and <i>AFM291wf</i><i>5</i> on a Single YAC

1996 • 13 citations

X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443

1995 • 13 citations

High-Resolution Physical Map of the X-linked Retinoschisis Interval in Xp22

1997 • 10 citations

Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis

1999 • 7 citations

Molecular Cloning and Characterization of the cDNA for Discoidin II of Dictyostelium discoideum

1996 • 7 citations