Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M Annicchiarico-Petruzzelli

Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Cell Death and Disease

Molecular Neuroscience

English

Related publications

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

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

American Journal of Human Genetics

Genetics

1997

English

Lamellar Ichthyosis

2020

English

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

Journal of Integrative Cardiology

2020

English

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

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

European Journal of Human Genetics

Genetics

2017

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

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

Mutations in Lipid Transporter ABCA12 in Harlequin Ichthyosis and Functional Recovery by Corrective Gene Transfer

Journal of Clinical Investigation

Medicine

2005

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M Annicchiarico-Petruzzelli

Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Related publications

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

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

Lamellar Ichthyosis

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

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

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

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

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

Mutations in Lipid Transporter ABCA12 in Harlequin Ichthyosis and Functional Recovery by Corrective Gene Transfer