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

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211
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Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

NUBER, Franziska; SCHIMPF, Johannes; DI RAGO, Jean-Paul ...
(Scientific Reports. vol. 11, n° 1, 2021-06-16)

Article de revueLibre accès
Evidence of mosaicism in SPAST variant carriers in four French families

ANGELINI, Chloe; GOIZET, Cyril; AIT SAID, Samia ...
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)

Article de revue
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

GARDE, Aurore; GUIBAUD, Laurent; GOLDENBERG, Alice ...
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)

Article de revue
Re-focusing on Agnathia-Otocephaly complex

DUBUCS, C.; CHASSAING, N.; SERGI, C. ...
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)

Article de revue
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited

GOIZET, Cyril
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)

Article de revue
Albinism: An Underdiagnosed Condition.

ARVEILER, Benoit; MICHAUD, Vincent; LASSEAUX, Eulalie
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)

Article de revue
Clinical variability and probable founder effect in oculocutaneous albinism type 7.

BATAILLE, Pauline; MICHAUD, Vincent; ROBERT, Matthieu P ...
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)

Article de revue
Management of albinism: French guidelines for diagnosis and care

MORENO-ARTERO, E.; MORICE-PICARD, Fanny; BREMOND-GIGNAC, D. ...
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)

Article de revue
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

ANGELINI, Chloe; TRIMOUILLE, Aurelien; ARVEILER, Benoit ...
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)

Article de revue
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome

CHAFAI ELALAOUI, Siham; SMAILI, Wiam; VAN-GILS, Julien ...
(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)

Article de revueLibre accès
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

TINGAUD-SEQUEIRA, Angele; TRIMOUILLE, Aurelien; SALARIA, Manju ...
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)

Article de revue
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...
(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)

Article de revue
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

ROUX-LEVY, Pierre-Henri; SANLAVILLE, Damien; DE FREMINVILLE, Benedicte ...
(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)

Article de revue
Proteomic study of low-birth-weight nephropathy in rats

IMASAWA, Toshiyuki; CLAVEROL, Stephane; LACOMBE, Didier ...
(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)

Article de revueLibre accès
Evaluation of the template letter regarding the disclosure of genetic information within the family in France

ZORDAN, C.; MONTEIL, L.; HAQUET, E. ...
(Journal of Community Genetics. vol. 10, n° 4, pp. 489-, 2019-10)

Article de revue
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas

AMOEDO, Nivea Dias; SARLAK, Saharnaz; OBRE, Emilie ...
(Journal of Clinical Investigation. vol. 131, n° 1, 2021-01-04)

Article de revue
Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model

DAI, Wangde; AMOEDO, Nivea Dias; PERRY, Justin ...
(Cardiovascular Drugs and Therapy, 2022-04)

Article de revue
Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).

POTVIN, Julien; ETCHEBARNE, Isabelle; SOUBIRON, Laurent ...
(Journal of clinical monitoring, 2022-04)

Article de revue
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

BOUTIN, Julian; ROSIER, Juliette; CAPPELLEN, David ...
(Nature Communications. vol. 12, n° 1, 2021-08-13)

Article de revueLibre accès
Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2

HARLY, Christelle; JOYCE, Stephen Paul; DOMBLIDES, Charlotte ...
(Science Immunology. vol. 6, n° 61, 2021-07-30)

Article de revue

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

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I ﻿

Evidence of mosaicism in SPAST variant carriers in four French families ﻿

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials ﻿

Re-focusing on Agnathia-Otocephaly complex ﻿

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited ﻿

Albinism: An Underdiagnosed Condition. ﻿

Clinical variability and probable founder effect in oculocutaneous albinism type 7. ﻿

Management of albinism: French guidelines for diagnosis and care ﻿

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease ﻿

Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome ﻿

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum ﻿

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2) ﻿

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study ﻿

Proteomic study of low-birth-weight nephropathy in rats ﻿

Evaluation of the template letter regarding the disclosure of genetic information within the family in France ﻿

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas ﻿

Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model ﻿

Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI). ﻿

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells ﻿

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2 ﻿

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

Evidence of mosaicism in SPAST variant carriers in four French families

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Re-focusing on Agnathia-Otocephaly complex

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited

Albinism: An Underdiagnosed Condition.

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Management of albinism: French guidelines for diagnosis and care

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

Proteomic study of low-birth-weight nephropathy in rats

Evaluation of the template letter regarding the disclosure of genetic information within the family in France

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas

Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model

Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2