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MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer

Annals of oncology, 2018-05, Vol.29 (5), p.1292-1303

2018

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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Human molecular genetics, 2002, Vol.11 (1), p.87-92

2002

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Prostaglandin-D2 synthase localises to centrioles and primary cilium, and interacts with TOPORS, implicated in retinal ciliopathy

Cilia (London), 2015-07, Vol.4 (S1), p.P15-P15, Article P15

2015

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Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract

Human molecular genetics, 2004-05, Vol.13 (9), p.945-953

2004

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Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

British journal of ophthalmology, 2008-02, Vol.92 (2), p.299-300

2008

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A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 ( RP11)

Molecular cell, 2001-08, Vol.8 (2), p.375-381

2001

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Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

American journal of human genetics, 2006-12, Vol.79 (6), p.1059-1070

2006

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Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

Human genetics, 2000-12, Vol.107 (6), p.597-611

2000

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Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

American journal of human genetics, 2007-11, Vol.81 (5), p.1098-1103

2007

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Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

Human molecular genetics, 2005-01, Vol.14 (2), p.255-265

2005

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Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

Molecular vision, 2012-03, Vol.18, p.581-587

2012

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Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Human molecular genetics, 2002-01, Vol.11 (1), p.87-92

Chakarova, C. F.

2002

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A linkage study of affective disorders in two Bulgarian Gypsy families: results for candidate regions on chromosomes 18 and 21

Psychiatric genetics, 1998, Vol.8 (4), p.245-249

1998

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A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

Human genetics, 2005-12, Vol.118 (3-4), p.501-503

2005

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Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22

Psychiatric genetics, 2004-06, Vol.14 (2), p.101-106

2004

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A density functional for sparse matter

Journal of physics. Condensed matter, 2009-02, Vol.21 (8), p.084203-084203 (15)

2009

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A van der Waals density functional study of adenine on graphene: single-molecular adsorption and overlayer binding

Journal of physics. Condensed matter, 2011-04, Vol.23 (13), p.135001-8

2011

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Application of van der Waals density functional to an extended system: adsorption of benzene and naphthalene on graphite

Physical review letters, 2006-04, Vol.96 (14), p.146107-146107, Article 146107

2006

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Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

The British journal of ophthalmology, 2008, Vol.92 (2), p.299-300

2008

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Metabolic determinants of NAFLD in adults with type 1 diabetes

Diabetes research and clinical practice, 2022-04, Vol.186, p.109819-109819, Article 109819

2022

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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

Investigative ophthalmology & visual science, 2014-09, Vol.55 (11), p.7147-7158

2014

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Modeling of chromium precipitation in Fe-Cr alloys

Physical review. B, Condensed matter and materials physics, 2004-03, Vol.69 (9), Article 094103

2004

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NMNAT1 mutations cause Leber congenital amaurosis

Nature genetics, 2012-09, Vol.44 (9), p.1040-1045

2012

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Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

Investigative ophthalmology & visual science, 2009-12, Vol.50 (12), p.5927-5933

2009

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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Human molecular genetics, 2014-11, Vol.23 (21), p.5827-5837

2014

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MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Prostaglandin-D2 synthase localises to centrioles and primary cilium, and interacts with TOPORS, implicated in retinal ciliopathy

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 ( RP11)

Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

A linkage study of affective disorders in two Bulgarian Gypsy families: results for candidate regions on chromosomes 18 and 21

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22

A density functional for sparse matter

A van der Waals density functional study of adenine on graphene: single-molecular adsorption and overlayer binding

Application of van der Waals density functional to an extended system: adsorption of benzene and naphthalene on graphite

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance

Metabolic determinants of NAFLD in adults with type 1 diabetes

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

Modeling of chromium precipitation in Fe-Cr alloys

NMNAT1 mutations cause Leber congenital amaurosis

Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

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