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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Genomics (San Diego, Calif.), 2014-02, Vol.103 (2-3), p.169-176

2014

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Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses

Experimental eye research, 2004-12, Vol.79 (6), p.935-940

2004

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β-Crystallin association

Experimental eye research, 2004-09, Vol.79 (3), p.377-383

2004

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Molecular Genetics of Cataract

Developments in ophthalmology, 2003, Vol.37, p.67-82

2003

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Effects of gamma-aminobutyric acid receptor agonists and antagonist on LHRH-synthesizing neurons as detected by immunocytochemistry and in situ hybridization

Experimental brain research, 1991-10, Vol.87 (1), p.46-56

1991

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β-Crystallin association [Experimental Eye Research 79 (2004) 377–383]

Experimental eye research, 2004-12, Vol.79 (6), p.785-785

2004

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Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy

Genomics (San Diego, Calif.), 1995-05, Vol.27 (2), p.341-344

1995

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467 Association d’une cataracte congénitale autosomique récessive et d’une mutation du gène HSF4

Journal français d'ophtalmologie, 2005-03, Vol.28, p.280-281

2005

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Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide

The Journal of biological chemistry, 1994-08, Vol.269 (33), p.21141-21145

1994

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Linkage Analysis and Physical Mapping near the Gene for X-Linked Agammaglobulinemia at Xq22

Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.342-349

1993

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Chapter 19 - Vision

Conn's Translational Neuroscience, 2017, p.399-438

2017

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Autosomal Dominant Zonular Cataract With Sutural Opacities in a Four-Generation Family

American journal of ophthalmology, 1996-02, Vol.121 (2), p.162-168

1996

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Genetics of Congenital Cataract

Encyclopedia of the Eye, 2010, Vol.2, p.211-216

2010

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Genetics of Age-Related Cataract

Encyclopedia of the Eye, 2010, Vol.2, p.207-210

2010

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In situ hybridization for LHRH mRNA following estrogen treatment

Brain research. Molecular brain research., 1989-11, Vol.6 (2), p.121-125

1989

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NcoI and TaqI RFLPs for human M creatine kinase (CKM)

Nucleic acids research, 1988-09, Vol.16 (17), p.8744-8744

1988

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PRENATAL DIAGNOSIS OF α1-ANTITRYPSIN DEFICIENCY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AND COMPARISON WITH OLIGONUCLEOTIDE PROBE ANALYSIS

The Lancet (British edition), 1986-10, Vol.328 (8510), p.767-770

1986

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Exclusion of Usher syndrome gene from much of chromosome 4

Cytogenetic and genome research, 1989-01, Vol.50 (2-3), p.102-106

1989

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RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHY

The Lancet (British edition), 1986-07, Vol.328 (8498), p.104-104

1986

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A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

Genomics (San Diego, Calif.), 1989, Vol.4 (1), p.105-109

1989

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PRENATAL DIAGNOSIS OF α 1-ANTITRYPSIN DEFICIENCY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AND COMPARISON WITH OLIGONUCLEOTIDE PROBE ANALYSIS

The Lancet (British edition), 1986, Vol.328 (8510), p.767-770

1986

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Structure and function of lens crystallins: Relationship to transparency

Experimental eye research, 1992-09, Vol.55, p.60-60

1992

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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses

β-Crystallin association

Molecular Genetics of Cataract

Effects of gamma-aminobutyric acid receptor agonists and antagonist on LHRH-synthesizing neurons as detected by immunocytochemistry and in situ hybridization

β-Crystallin association [Experimental Eye Research 79 (2004) 377–383]

Linkage and Candidate Gene Analysis of X-Linked Familial Exudative Vitreoretinopathy

467 Association d’une cataracte congénitale autosomique récessive et d’une mutation du gène HSF4

Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide

Linkage Analysis and Physical Mapping near the Gene for X-Linked Agammaglobulinemia at Xq22

Chapter 19 - Vision

Autosomal Dominant Zonular Cataract With Sutural Opacities in a Four-Generation Family

Genetics of Congenital Cataract

Genetics of Age-Related Cataract

In situ hybridization for LHRH mRNA following estrogen treatment

NcoI and TaqI RFLPs for human M creatine kinase (CKM)

PRENATAL DIAGNOSIS OF α1-ANTITRYPSIN DEFICIENCY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AND COMPARISON WITH OLIGONUCLEOTIDE PROBE ANALYSIS

Exclusion of Usher syndrome gene from much of chromosome 4

RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHY

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus

PRENATAL DIAGNOSIS OF α 1-ANTITRYPSIN DEFICIENCY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AND COMPARISON WITH OLIGONUCLEOTIDE PROBE ANALYSIS

Structure and function of lens crystallins: Relationship to transparency

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