Lista de obras - Mingyan Fang - Dominio Público Uruguay

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

artículo científico publicado en 2020

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

artículo científico publicado en 2013

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

artículo científico publicado en 2015

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

artículo científico publicado en 2012

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

artículo científico publicado en 2015

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

artículo científico publicado en 2017

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

scientific article published on 26 March 2020

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

artículo científico publicado en 2013

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants

artículo científico publicado en 2020

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

artículo científico publicado en 2018

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

scientific article published on 23 December 2016

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

scientific article published on 12 February 2019

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

artículo científico publicado en 2015

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

artículo científico publicado en 2013

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

artículo científico publicado en 2012

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

artículo científico publicado en 2016

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

artículo científico publicado en 2018

Janus kinase inhibition in complement component 1 deficiency

scientific article published on 20 April 2020

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

artículo científico publicado en 2015

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Lessons from whole-exome sequencing in MODYX families

scholarly article by Petra Dusatkova et al published June 2014 in Diabetes Research and Clinical Practice

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling

artículo científico publicado en 2016

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

artículo científico publicado en 2019

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

artículo científico publicado en 2017

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

artículo científico publicado en 2013

Mutations in ABCB6 cause dyschromatosis universalis hereditaria

scientific journal article

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the mimic human disease phenotype

artículo científico publicado en 2019

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions

artículo científico publicado en 2016

Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination

artículo científico publicado en 2020

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

artículo científico publicado en 2015

SMYD1 is the underlying gene for the AnWj-negative blood group phenotype

artículo científico publicado en 2018

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

artículo científico publicado en 2015

Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated With Colorectal Cancer

artículo científico publicado en 2021

Spectrum of Phenotypes Associated with Mutations in LRBA.

artículo científico

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects

artículo científico publicado en 2021

T cell receptor β repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritis

scientific article published on 17 May 2019

T-cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases

scientific article published on 09 September 2019

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

artículo científico publicado en 2014

The novel HLA-C*08:80 allele identified by full-length sequencing of the HLA region

scientific article published on 11 March 2019

Lista de obras de Mingyan Fang

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Janus kinase inhibition in complement component 1 deficiency

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Lessons from whole-exome sequencing in MODYX families

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

Mutations in ABCB6 cause dyschromatosis universalis hereditaria

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the mimic human disease phenotype

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions

Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

SMYD1 is the underlying gene for the AnWj-negative blood group phenotype

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated With Colorectal Cancer

Spectrum of Phenotypes Associated with Mutations in LRBA.

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects

T cell receptor β repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritis

T-cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseases

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

The novel HLA-C*08:80 allele identified by full-length sequencing of the HLA region