Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Title
Now showing items 33-52 of 120
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Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2
(Science Immunology. vol. 6, n° 61, 2021-07-30)Article de revue -
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
(Genes. vol. 13, n° 12, 2022-11-23)Article de revueOpen access -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
(Platelets. vol. 32, n° 3, pp. 420-423, 2021-04-03)Article de revue -
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueOpen access -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueOpen access -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
(Platelets. vol. 32, n° 3, pp. 420-423, 2021)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
Pain evaluation after day-surgery using a mobile phone application
(Anaesthesia Critical Care & Pain Medicine. vol. 40, n° 3, 2021-06)Article de revue -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue -
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)Article de revue -
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
(European Journal of Human Genetics, 2021-06-01)Article de revueOpen access -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueOpen access -
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
(Journal of Inherited Metabolic Disease. vol. 44, n° 3, pp. 777-786, 2021-05)Article de revue -
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages
(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue