Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "LACOMBE, Didier"
Mostrando ítems 1-20 de 32
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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 -
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 acceso -
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 -
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 acceso -
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 -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
PALMER, Elizabeth E.; WHITTON, Chloe; HASHEM, Mais O. ...(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
PENNAMEN, Perrine; TINGAUD-SEQUEIRA, Angele; GAZOVA, Iveta ...(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
BERENGUER, Marie; DARNAUDERY, Muriel; CLAVEROL, Stephane ...(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
LACOMBE, Didier; VAN-GILS, Julien; LEBRUN, Marine ...(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
PENNAMEN, Perrine; TINGAUD-SEQUEIRA, Angele; MICHAUD, Vincent ...(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)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
ADRIEN, Jean-Louis; TAUPIAC, Emmanuelle; THIEBAUT, Eric ...(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue -
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
SCHÖNAUER, Ria; JIN, Wenjun; FINDEISEN, Christin ...(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling.
SARLAK, Saharnaz; LALOU, Claude; SANT'ANNA-SILVA, Ana Carolina B ...(Antioxidants and Redox Signaling. vol. 36, n° 7-9, pp. 525-549, 2022-03-01)Article de revue -
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
JIN, Danni; WEK, Sheree A; CORDOVA, Ricardo A ...(Clinical Genetics. vol. 103, n° 3, pp. 358-363, 2023-03-01)Article de revueLibre acceso -
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
TINGAUD-SEQUEIRA, Angele; TRIMOUILLE, Aurelien; SAGARDOY, Thomas ...(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
GUFFON, Nathalie; GENEVAZ, Delphine; LACOMBE, Didier ...(Orphanet Journal of Rare Diseases. vol. 17, n° 1, pp. 448-460, 2022-12-23)Article de revueLibre acceso