Récemment ajouté

(European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol. 19, n° 2, pp. 271-3, 2015-03-01)

Article de revue

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

HOUCINAT, Nada; LLANAS, Brigitte; MOUTTON, Sébastien ...

(American Journal of Medical Genetics Part A. vol. 167A, n° 11, pp. 2714-9, 2015-11-01)

Article de revue

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.

ROSSIGNOL, Rodrigue

(International Journal of Biochemistry and Cell Biology. vol. 63, pp. 2-9, 2015-06-01)

Article de revue

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.

OBRE, Emilie; ROSSIGNOL, Rodrigue

(International Journal of Biochemistry and Cell Biology. vol. 59, pp. 167-81, 2015-02-01)

Article de revue

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.

SAUVESTRE, Clément; BOILEAU, Marie-José; CAULE, Camille ...

(Cardiology in the Young. pp. 1-4, 2024-10-11)

Article de revue

Acid sphingomyelinase deficiency in France: a retrospective survival study.

MAUHIN, Wladimir; GUFFON, Nathalie; VANIER, Marie T ...

(Orphanet Journal of Rare Diseases. vol. 19, n° 1, pp. 289, 2024-08-05)

Article de revueLibre accès

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

DOLLFUS, Helene; LILIEN, Marc R; MAFFEI, Pietro ...

(European Journal of Human Genetics. vol. 32, n° 11, pp. 1347-1360, 2024-07-31)

Article de revueLibre accès

Phenotypic, Metabolic, and Functional Characterization of Experimental Models of Foamy Macrophages: Toward Therapeutic Research in Atherosclerosis

HENNI MANSOUR, Amina Sarah; RAGUES, Mathilde; BREVIER, Julien ...

(International Journal of Molecular Sciences. vol. 25, n° 18, pp. 10146, 2024-09-21)

Article de revueLibre accès

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

HERMIDA, Alexis; ADER, Flavie; MILLAT, Gilles ...

(Circulation: Genomic and Precision Medicine. vol. 17, n° 1, pp. e004285, 2024-02-01)

Article de revue

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

GREEN, David J; MICHAUD, Vincent

; LASSEAUX, Eulalie ...

(Nature Communications. vol. 15, n° 1, pp. 8436, 2024-09-30)

Article de revueLibre accès

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

Albinism in a patient with mutations at both the OA1 and OCA3 loci. ﻿

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS ﻿

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype. ﻿

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS ﻿

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. ﻿

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx) ﻿

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant. ﻿

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. ﻿

Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review. ﻿

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ﻿

SCA27 is a cause of early-onset ataxia and developmental delay. ﻿

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents. ﻿

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists. ﻿

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy. ﻿

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene. ﻿

Acid sphingomyelinase deficiency in France: a retrospective survival study. ﻿

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. ﻿

Phenotypic, Metabolic, and Functional Characterization of Experimental Models of Foamy Macrophages: Toward Therapeutic Research in Atherosclerosis ﻿

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. ﻿

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. ﻿

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

SCA27 is a cause of early-onset ataxia and developmental delay.

Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists.

Emerging concepts in bioenergetics and cancer research: metabolic flexibility, coupling, symbiosis, switch, oxidative tumors, metabolic remodeling, signaling and bioenergetic therapy.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Phenotypic, Metabolic, and Functional Characterization of Experimental Models of Foamy Macrophages: Toward Therapeutic Research in Atherosclerosis

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.