Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Catherine S. Yang

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology

Dermatology

2016

English

Eczema Craquelé Associated With Nephrotic Syndrome

JAAD Case Reports

Dermatology

2016

English

Related publications

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Journal of Integrative Cardiology

2020

English

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Journal of Medical Genetics

Genetics

2008

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

English

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

American Journal of Human Genetics

Genetics

1997

English

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

European Journal of Human Genetics

Genetics

2017

English

375 Modelling and Understanding Pathomechanisms of X-Linked Recessive Ichthyosis in Vitro

Journal of Investigative Dermatology

English

Increased Prevalence of Filaggrin Deficiency in 51 Patients With Recessive X-Linked Ichthyosis Presenting for Dermatological Examination

Journal of Investigative Dermatology

English

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

Veterinary Medicine and Science

Veterinary

2019

English

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Catherine S. Yang

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Eczema Craquelé Associated With Nephrotic Syndrome

Related publications

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

375 Modelling and Understanding Pathomechanisms of X-Linked Recessive Ichthyosis in Vitro

Increased Prevalence of Filaggrin Deficiency in 51 Patients With Recessive X-Linked Ichthyosis Presenting for Dermatological Examination

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis