New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

Autor: Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

Publikováno v: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)

Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations detected by NGS are sing

Externí odkaz: https://doaj.org/article/7e358b27452f44e59045c62065768904

Reversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children

Autor: Sylvia Napuri, Mathieu Kuchenbuch, Maïa Proisy, Catherine Tréguier, Constantin Gomes, Emmanuel Quehen, Anthony Le Bras, Bertrand Bruneau

Publikováno v: Pediatric Radiology. 48:999-1007

Reversible lesions of the corpus callosum with initial restricted diffusion on diffusion-weighted imaging (DWI) are rare and mainly described in the south Asiatic population. The purpose of this study was to describe the clinical presentation, imagin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661e6b254a748707abb12ded66799187
https://doi.org/10.1007/s00247-018-4124-x

Correction des scolioses idiopathiques thoraciques de l’adolescent par action directe et unique sur la tige convexe

Autor: G. Lucas, Société d’Orthopédie de l’Ouest, Philippe Violas, Paul Sauleau, Constantin Gomes, Cyril Bryand

Publikováno v: Revue de Chirurgie Orthopédique et Traumatologique
Revue de Chirurgie Orthopédique et Traumatologique, Elsevier Masson, 2019, 105, pp.759-762. ⟨10.1016/j.rcot.2019.06.001⟩

Resume La chirurgie de la scoliose par voie posterieure requiert differentes techniques ayant pour principe des implants positionnes des deux cotes de la courbure et une reduction de la deformation sur la tige concave ou sur les deux tiges simultanem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52152d275add080e2c8e7b221ab9f61
https://hal.archives-ouvertes.fr/hal-03487517

Cerebral vasospasm in a child with typical hemolytic uremic syndrome : a case report and review of literature

Autor: Dr. Constantin Gomes, Dr. Maïa Proisy, Dr. Théophile Gaillot, Dr. Sylvia Napuri, Dr. Mathieu Kuchenbuch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::975894c012d83f3bbb4b6de3e417812f

Magnetic resonance imaging in children presenting migraine with aura: Association of hypoperfusion detected by arterial spin labelling and vasospasm on MR angiography findings

Autor: Catherine Tréguier, Bertrand Bruneau, Aline Carsin-Vu, Romain Longuet, Maïa Proisy, Isabelle Corouge, Domitille Cadiot, Constantin Gomes

Publikováno v: RSNA
RSNA, Nov 2017, Chicago, United States
HAL
Cephalalgia
Cephalalgia, 2018, 38 (5), pp.949-958. ⟨10.1177/0333102417723570⟩
Cephalalgia, SAGE Publications, 2018, 38 (5), pp.949-958. ⟨10.1177/0333102417723570⟩

Objective A child presenting with a first attack of migraine with aura usually undergoes magnetic resonance imaging (MRI) to rule out stroke. The purpose of this study was to report vascular and brain perfusion findings in children suffering from mig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f53ae47b43706c651553ff798527564
https://www.hal.inserm.fr/inserm-01651767