Maladies Rares : Génétique et Métabolisme (MRGM)

Le projet de recherche de l'unité s'inscrit dans une approche translationnelle et intégrative dite « du lit du malade au laboratoire », visant à décrire la physiopathologie de certaines maladies rares (MR) et « du laboratoire vers le patient », afin de faire bénéficier les patients des avancées de la recherche. Cette approche transrationnelle suit deux axes de recherche. Le 1er axe concerne les maladies génétiques rares du développement avec le syndrome de Goldenhar ou spectre oculo-auriculo-vertébral (OAVS) dont le déterminisme génétique est inconnu, et le syndrome de Rubinstein-Taybi lie à deux gènes connus, CREBBP et EP300. Le second axe de recherche repose sur l'étude du métabolisme énergétique et lipidique dans les dégénérescences spinocérébelleuses et les Rasopathies (syndrome de Costello et neurofibromatose de type I).

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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Recent Submissions

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

Browse by

Recent Submissions

A multilayered approach to the analysis of genetic data from individuals with suspected albinism. ﻿

ARF1-related disorder: phenotypic and molecular spectrum ﻿

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes. ﻿

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. ﻿

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. ﻿

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies. ﻿

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). ﻿

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal ﻿

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool. ﻿

Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. ﻿

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins. ﻿

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center ﻿

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA). ﻿

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. ﻿

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. ﻿

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. ﻿

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. ﻿

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. ﻿

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts. ﻿

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins. ﻿

Statistics

Collection General Statistics

Typology History

Recent submissions distribution

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.