HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Autor: Morel, Victor, Campana-Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther-Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐sophie, Magdelaine, Corinne, Beze-Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie

Publikováno v: Clinical Genetics
Clinical Genetics, 2022, ⟨10.1111/cge.14198⟩

International audience; Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33 f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d5f8f5d6a33ceb9cca9b49368c6f0b
https://pubmed.ncbi.nlm.nih.gov/35882622

La diarrhée aiguë du nourrisson et du jeune enfant : évaluation de la prise en charge ambulatoire dans le département de l'Isère

Autor: Boyer, Amandine

Publikováno v: Sciences pharmaceutiques. 2015

Acute diarrhea is one of the most common diseases in infants and young children worldwide. In France, the most common infectious agent is rotavirus (acute gastroenteritis). Evolution is usually mild and lasts only a few days. Nevertheless, there rema

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::880f9ae7242a55a5113d11c73e86a93e
https://dumas.ccsd.cnrs.fr/dumas-01432586

A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Autor: Boubaker, Chokri, Hsairi-Guidara, Inès, Castro, Christel, Ayadi, Ines, Boyer, Amandine, Kerkeni, Emna, Courageot, Joël, Abid, Imen, Bernard, Rafaëlle, Bonello-Palot, Nathalie, Kamoun, Fatma, Cheikh, Hassen Ben, Levy, Nicolas, Triki, Chahnez, Delague, Valérie

Publikováno v: Annals of Human Genetics
Annals of Human Genetics, 2012, 77 (4), pp.336-343. ⟨10.1111/ahg.12017⟩
Annals of Human Genetics, Wiley, 2012, 77 (4), pp.336-343. ⟨10.1111/ahg.12017⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c9a644477978d483760d865fbf12b454
https://amu.hal.science/hal-03147668

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Autor: Navarro, C.L., Sandre-Giovannoli, A., Bernard, R., Boccaccio, I., Genevieve, D., Hadj-Rabia, S., Gaudy-Marqueste, C., Smitt, H.S., Vabres, P., Faivre, L., Verloes, A., van Essen, Ton, Flori, E., Hennekam, R., Beemer, F.A., Laurent, N., Le Merrer, M., Cau, P., Levy, N., Boccaccio, [No Value], Boyer, Amandine

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2004, 13 (20), pp.2493-2503. ⟨10.1093/hmg/ddh265⟩
Human Molecular Genetics, Oxford University Press (OUP), 2004, 13 (20), pp.2493-2503. 〈10.1093/hmg/ddh265〉
Human molecular genetics, 13(20), 2493-2503. Oxford University Press
Human Molecular Genetics, 2004, 13 (20), pp.2493-2503. ⟨10.1093/hmg/ddh265⟩
Human Molecular Genetics, 13(20), 2493-2503. Oxford University Press

International audience; Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4e167d00fd4bf81eb733cdbd5c1e6b
https://hal-amu.archives-ouvertes.fr/hal-01668977/document

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