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Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

American journal of human genetics, 2002-02, Vol.70 (2), p.448-460

2002

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CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

American journal of human genetics, 2006-10, Vol.79 (4), p.702-709

2006

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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

European journal of human genetics : EJHG, 2000, Vol.8 (1), p.71-74

2000

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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Investigative ophthalmology & visual science, 2020-08, Vol.61 (10), p.36

2020

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463

2010

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Human mutation, 2011-06, Vol.32 (6), p.610-619

2011

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OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

Journal of medical genetics, 2014-12, Vol.51 (12), p.797-805

2014

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Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00521-n/a

2019

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BBS Mutational Analysis: A Strategic Approach

Ophthalmic genetics, 2011-09, Vol.32 (3), p.181-187

2011

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The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

American journal of human genetics, 1999-11, Vol.65 (5), p.1261-1267

1999

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Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

Ophthalmic genetics, 2012-09, Vol.33 (3), p.150-154

2012

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VSX1: A gene for posterior polymorphous dystrophy and keratoconus

Human molecular genetics, 2002-05, Vol.11 (9), p.1029-1036

2002

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BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Human mutation, 2009-07, Vol.30 (7), p.E737-E746

2009

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Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation

Acta ophthalmologica (Oxford, England), 2010-09, Vol.88 (6), p.695-699

2010

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Further support of the role of CYP1B1 in patients with Peters anomaly

Molecular vision, 2006-05, Vol.12, p.506-510

2006

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Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders

Ophthalmic genetics, 2011-06, Vol.32 (2), p.107-113

2011

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Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Investigative ophthalmology & visual science, 2000-01, Vol.41 (1), p.159-165

2000

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Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

Investigative ophthalmology & visual science, 2004-09, Vol.45 (9), p.3122-3130

2004

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Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

Journal of medical genetics, 2001-05, Vol.38 (5), p.324-326

2001

Volltextzugriff (PDF)

CRYBB1 mutation associated with congenital cataract and microcornea

Molecular vision, 2005-08, Vol.11, p.587-593

2005

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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.71-74

2000

Volltextzugriff (PDF)

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

American journal of human genetics, 2001-03, Vol.68 (3), p.772-777

2001

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Physical mapping of four serpin genes α1-antitrypsin, α1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1

American journal of human genetics, 1993, Vol.52 (2), p.343-353

1993

Volltextzugriff (PDF)

Physical and genetic mapping of the serpin gene cluster at 14q32.1 : allelic association and a unique haplotype associated with α1-antitrypsin deficiency

American journal of human genetics, 1994, Vol.55 (1), p.126-133

1994

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Further Genetic Heterogeneity for Autosomal Dominant Human Sutural Cataracts

Ophthalmic research, 2003-03, Vol.35 (2), p.71-77

2003

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Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

BBS Mutational Analysis: A Strategic Approach

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

VSX1: A gene for posterior polymorphous dystrophy and keratoconus

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation

Further support of the role of CYP1B1 in patients with Peters anomaly

Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

CRYBB1 mutation associated with congenital cataract and microcornea

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Physical mapping of four serpin genes α1-antitrypsin, α1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1

Physical and genetic mapping of the serpin gene cluster at 14q32.1 : allelic association and a unique haplotype associated with α1-antitrypsin deficiency

Further Genetic Heterogeneity for Autosomal Dominant Human Sutural Cataracts

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