Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "LACOMBE, Didier"
Mostrando ítems 1-20 de 35
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
MESSIAEN, Claude; RACINE, Caroline; KHATIM, Ahlem ...(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueLibre acceso -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
SCHALK, Audrey; COUSIN, Margot A; DSOUZA, Nikita R ...Document de travail - Pré-publicationLibre acceso -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
PENNAMEN, Perrine; LE, Linh; TINGAUD-SEQUEIRA, Angele ...
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
GARDIN, Antoine; CASTELLE, Martin; PICHARD, Samia ...(vol. 58, n° 3, pp. 295-302, 2023-03-01)Article de revueLibre acceso -
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
LEVAILLANT, Lucie; BOUHOURS-NOUET, Natacha; ILLOUZ, Frederic ...(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)Article de revueLibre acceso -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
HUSSON, Thomas; LECOQUIERRE, François; NICOLAS, Gaël ...(European Journal of Human Genetics, 2023-10-23)Article de revueLibre acceso -
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
GERMAIN, Dominique P; LEVADE, Thierry; HACHULLA, Eric ...(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueLibre acceso -
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