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Publications by D H Cohn

Frameshift Mutation Near the 3' End of the COL1A1 Gene of Type I Collagen Predicts an Elongated Pro Alpha 1(I) Chain and Results in Osteogenesis Imperfecta Type I.

Journal of Clinical Investigation

Medicine

1990

English

Identification of Loss-Of-Function Mutations of SLC35D1 in Patients With Schneckenbecken Dysplasia, but Not With Other Severe Spondylodysplastic Dysplasias Group Diseases

Journal of Medical Genetics

Genetics

2009

English

Related publications

An Unusual Presentation of Osteogenesis Imperfecta Type I

International Medical Case Reports Journal

Medicine

2011

English

Characterization of an .ALPHA.3 Chain From Carp Skin Type I Collagen.

Nippon Suisan Gakkaishi

Aquatic Science

1990

English

Mutations in Type I Collagen Genes Resulting in Osteogenesis Imperfecta in Humans.

Acta Biochimica Polonica

English

Arachnoid Cyst and Chronic Subdural Haematoma in a Child With Osteogenesis Imperfecta Type III Resulting From the Substitution of Glycine 1006 by Alanine in the Pro Alpha 2(I) Chain of Type I Procollagen.

Journal of Medical Genetics

Genetics

1996

English

A Novel Gly to Arg Substitution at Position 388 of the Alpha1 Chain of Type I Collagen in Lethal Form of Osteogenesis Imperfecta.

Acta Biochimica Polonica

English

General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta

Annals of the New York Academy of Sciences

Philosophy of Science

1988

English

Stimulation of Collagen Biosynthesis by Flavonoid Glycosides in Skin Fibroblasts of Osteogenesis Imperfecta Type I and the Potential Mechanism of Their Action

International Journal of Molecular Medicine

Medicine

Genetics

2007

English

Abnormal Type I Collagen Post-Translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

English

Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene

Genetics and Molecular Research

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by D H Cohn

Frameshift Mutation Near the 3' End of the COL1A1 Gene of Type I Collagen Predicts an Elongated Pro Alpha 1(I) Chain and Results in Osteogenesis Imperfecta Type I.

Identification of Loss-Of-Function Mutations of SLC35D1 in Patients With Schneckenbecken Dysplasia, but Not With Other Severe Spondylodysplastic Dysplasias Group Diseases

Related publications

An Unusual Presentation of Osteogenesis Imperfecta Type I

Characterization of an .ALPHA.3 Chain From Carp Skin Type I Collagen.

Mutations in Type I Collagen Genes Resulting in Osteogenesis Imperfecta in Humans.

Arachnoid Cyst and Chronic Subdural Haematoma in a Child With Osteogenesis Imperfecta Type III Resulting From the Substitution of Glycine 1006 by Alanine in the Pro Alpha 2(I) Chain of Type I Procollagen.

A Novel Gly to Arg Substitution at Position 388 of the Alpha1 Chain of Type I Collagen in Lethal Form of Osteogenesis Imperfecta.

General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta

Stimulation of Collagen Biosynthesis by Flavonoid Glycosides in Skin Fibroblasts of Osteogenesis Imperfecta Type I and the Potential Mechanism of Their Action

Abnormal Type I Collagen Post-Translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene