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Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda

Nature genetics, 1999-08, Vol.22 (4), p.400-404

1999

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1386-1397

2001

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Enzyme-Replacement Therapy in Mucopolysaccharidosis I

The New England journal of medicine, 2001-01, Vol.344 (3), p.182-188

2001

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Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

American journal of human genetics, 1998-04, Vol.62 (4), p.816-823

1998

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Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia

Proceedings of the National Academy of Sciences - PNAS, 1990-05, Vol.87 (10), p.3889-3893

1990

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Dominant mutations in the type II collagen gene, COL2A1 , produce spondyloepimetaphyseal dysplasia, Strudwick type

Nature genetics, 1995-09, Vol.11 (1), p.87-89

1995

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Multiple Inositol Polyphosphate Phosphatase: Evolution as a Distinct Group within the Histidine Phosphatase Family and Chromosomal Localization of the Human and Mouse Genes to Chromosomes 10q23 and 19

Genomics (San Diego, Calif.), 1999-03, Vol.56 (3), p.324-336

1999

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Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3

Human molecular genetics, 2017-11, Vol.26 (21), p.4095-4104

2017

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Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)

The Journal of biological chemistry, 1999-01, Vol.274 (2), p.981-986

1999

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Cell, 1995-02, Vol.80 (3), p.431-437

1995

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An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

The Journal of biological chemistry, 1992-11, Vol.267 (31), p.22522-22526

1992

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An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2AI) in a family with spondyloepiphyseal dysplasia congenita

American journal of human genetics, 1995-02, Vol.56 (2), p.388-395

1995

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Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

Clinical genetics, 1998-06, Vol.53 (6), p.460-465

1998

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A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1398-1407

2001

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

American journal of human genetics, 2018-10, Vol.103 (4), p.553-567

2018

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Hydrogenation of Triton X-100 eliminates its fluorescence and ultraviolet light absorption while preserving its detergent properties

Analytical biochemistry, 1984-08, Vol.141 (1), p.262-266

1984

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Isolation and characterization of a mammalian homolog of the Drosophila white gene

Gene, 1997, Vol.185 (1), p.77-85

1997

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Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene

Nucleic acids research, 1991-08, Vol.19 (15), p.4305-4305

1991

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A Novel PTPN11 mutation in LEOPARD syndrome

Human mutation, 2003-06, Vol.21 (6), p.654-654

2003

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Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism

Genomics (San Diego, Calif.), 1994-03, Vol.20 (2), p.275-277

1994

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Abstract P2-09-26: Women without significant claus model breast cancer risks may warrant breast MRI when a pathogenic/likely-pathogenic variant (PV/LPV) is detected in a hereditary cancer moderate risk gene

Cancer research (Chicago, Ill.), 2016-02, Vol.76 (4_Supplement), p.P2-P2-09-26

2016

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Abstract P2-09-04: Implementation of next generation cancer gene panel testing in a large HMO

Cancer research (Chicago, Ill.), 2016-02, Vol.76 (4_Supplement), p.P2-P2-09-04

2016

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Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update

European journal of radiology, 1992, Vol.14 (1), p.1-10

1992

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Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease

Pediatrics (Evanston), 2004-10, Vol.114 (4), p.e532-e535

2004

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Effect of membrane fluidity upon binding of Electrophorus acetylcholinesterase to lipid vesicles

Biochimica et biophysica acta, 1985-01, Vol.812 (2), p.543-552

1985

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Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia

Dominant mutations in the type II collagen gene, COL2A1 , produce spondyloepimetaphyseal dysplasia, Strudwick type

Multiple Inositol Polyphosphate Phosphatase: Evolution as a Distinct Group within the Histidine Phosphatase Family and Chromosomal Localization of the Human and Mouse Genes to Chromosomes 10q23 and 19

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3

Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2AI) in a family with spondyloepiphyseal dysplasia congenita

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Hydrogenation of Triton X-100 eliminates its fluorescence and ultraviolet light absorption while preserving its detergent properties

Isolation and characterization of a mammalian homolog of the Drosophila white gene

Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene

A Novel PTPN11 mutation in LEOPARD syndrome

Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism

Abstract P2-09-26: Women without significant claus model breast cancer risks may warrant breast MRI when a pathogenic/likely-pathogenic variant (PV/LPV) is detected in a hereditary cancer moderate risk gene

Abstract P2-09-04: Implementation of next generation cancer gene panel testing in a large HMO

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease

Effect of membrane fluidity upon binding of Electrophorus acetylcholinesterase to lipid vesicles

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