Lista de obras - Michael F. Wangler - Dominio Público Uruguay

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

artículo científico publicado en 2015

ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models

artículo científico publicado en 2021

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila ⬇️

artículo científico publicado el 6 de agosto de 2011

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.

artículo científico publicado en 2005

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

artículo científico publicado en 2011

Biases in arginine codon usage correlate with genetic disease risk

scientific article published on 06 May 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

artículo científico publicado en 2017

Dataset for a case report of a homozygous PEX16 F332del mutation

artículo científico publicado en 2015

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

artículo científico publicado en 2019

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

artículo científico publicado en 2014

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

artículo científico publicado en 2016

Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits

artículo científico publicado en 2017

Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: a case cohort study from the BWS registry.

artículo científico publicado en 2005

Fruit flies in biomedical research.

artículo científico publicado en 2015

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

artículo científico publicado en 2005

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

scientific journal article

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

artículo científico publicado en 2017

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

artículo científico publicado en 2017

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

artículo científico publicado en 2016

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

artículo científico publicado en 2017

Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth

artículo científico publicado en 2009

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

artículo científico publicado en 2017

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

artículo científico publicado en 2015

Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster

artículo científico publicado en 2014

Racial disparity in the frequency of recurrence of preterm birth

scientific article published on 01 February 2007

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

The expanding neurological phenotype of DNM1L-related disorders

artículo científico publicado en 2018

Unusually Early Presentation of Small-Bowel Adenocarcinoma in a Patient With Peutz-Jeghers Syndrome ⬇️

artículo científico publicado el 1 de mayo de 2013

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Lista de obras de Michael F. Wangler

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila ⬇️

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Biases in arginine codon usage correlate with genetic disease risk

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Dataset for a case report of a homozygous PEX16 F332del mutation

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits

Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: a case cohort study from the BWS registry.

Fruit flies in biomedical research.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

Lessons learned from additional research analyses of unsolved clinical exome cases

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster

Racial disparity in the frequency of recurrence of preterm birth

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

The expanding neurological phenotype of DNM1L-related disorders

Unusually Early Presentation of Small-Bowel Adenocarcinoma in a Patient With Peutz-Jeghers Syndrome ⬇️

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.