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Publications by Annalisa G. Sega

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Drug Metabolism and Disposition

Pharmacology

Pharmaceutical Science

2018

English

Related publications

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

Journal of Zhejiang University: Science B

English

Identification of a Novel Deletion in UDP-glucuronosyltransferase Gene in a Patient With Crigler–Najjar Syndrome Type I

Blood Cells, Molecules, and Diseases

English

The First Case of Crigler-Najjar Syndrome Type-1 in Japan

Acta Hepatologica Japonica

Hepatology

1980

English

UGT1a1 Gene Mutations in a Tibetan Patient With Crigler-Najjar SyndromeType II - Case Report and Literature Review

Current Trends in Clinical & Medical Imaging

2018

English

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

Genetics and Molecular Research

English

Reduction of Hyperbilirubinemia With Hypericum Extract (St. John's Wort) in a Patient With Crigler-Najjar Syndrome Type II

British Journal of Clinical Pharmacology

Pharmacology

2016

English

UGT1A1 Variants C.864+5G>T and C.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

Frontiers in Genetics

Genetics

Molecular Medicine

2020

English

Discrimination Between Crigler-Najjar Type I and II by Expression of Mutant Bilirubin Uridine Diphosphate-Glucuronosyltransferase.

Journal of Clinical Investigation

Medicine

1994

English

Identification of a Genetic Alteration in the Code for Bilirubin UDP-glucuronosyltransferase in the UGT1 Gene Complex of a Crigler-Najjar Type I Patient.

Journal of Clinical Investigation

Medicine

1992

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Annalisa G. Sega

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Related publications

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

Identification of a Novel Deletion in UDP-glucuronosyltransferase Gene in a Patient With Crigler–Najjar Syndrome Type I

The First Case of Crigler-Najjar Syndrome Type-1 in Japan

UGT1a1 Gene Mutations in a Tibetan Patient With Crigler-Najjar SyndromeType II - Case Report and Literature Review

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2

Reduction of Hyperbilirubinemia With Hypericum Extract (St. John's Wort) in a Patient With Crigler-Najjar Syndrome Type II

UGT1A1 Variants C.864+5G>T and C.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

Discrimination Between Crigler-Najjar Type I and II by Expression of Mutant Bilirubin Uridine Diphosphate-Glucuronosyltransferase.

Identification of a Genetic Alteration in the Code for Bilirubin UDP-glucuronosyltransferase in the UGT1 Gene Complex of a Crigler-Najjar Type I Patient.