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Publications by Eladio A. Velasco

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

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

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

Current Trends in Clinical & Medical Imaging

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

Drug Metabolism and Disposition

Pharmacology

Pharmaceutical Science

2018

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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

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

Blood Cells, Molecules, and Diseases

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

Acta Hepatologica Japonica

Hepatology

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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

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A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

Genetics and Molecular Research

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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

ATP-binding Cassette Subfamily A, Member 4 Intronic Variants C.4773+3A>G and C.5461-10t>c Cause Stargardt Disease Due to Defective Splicing

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Eladio A. Velasco

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

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Related publications

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

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

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

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

A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

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

ATP-binding Cassette Subfamily A, Member 4 Intronic Variants C.4773+3A>G and C.5461-10t>c Cause Stargardt Disease Due to Defective Splicing