Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation

Autor: Claude Matuchansky, Daniel Rigaud, Violaine Planté-Bordeneuve, Laurent Bedenne, Gérard Said, Annie Nivelon-Chevallier, Catherine Lacroix, Abdelhamid Slama, Pascal Crenn, Eric Manceau, Anne Guiochon-Mantel, Bernard Messing, Pierre Soichot

Publikováno v: Journal of Neurology. 252:655-662

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitoch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e20a33b97da6cab2051b016303c1ac
https://doi.org/10.1007/s00415-005-0712-4

Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Autor: Martine Lemerrer, P. Khau van Kien, Pierre Maroteaux, Valérie Cormier-Daire, C. Robinet, Arnold Munnich, Laurence Faivre, Annie Nivelon-Chevallier, Marie-Laure Kottler, B. Lorcerie

Publikováno v: American Journal of Medical Genetics. 99:132-136

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b263557f2419fceba73aa2a0184c1d82
https://doi.org/10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co

Les tests et empreintes génétiques : enjeux de société

Autor: Sylvie Manouvrier-Hanu, Annie Nivelon-Chevalier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::963f5473462bbb3c9bb9312bc52b37ea
https://doi.org/10.3917/eres.hirsc.2010.02.0525

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

Autor: Laurence Faivre, F. Beer, N. Madinier-Chappat, Ph. Khau Van Kien, Annie Nivelon-Chevallier, Martine Lemerrer

Publikováno v: American Journal of Medical Genetics. 87:450-452

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4ca728a351a97287bb35686063d885e
https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

Autor: Henri Plauchu, Caroline Bonnet, Xavier Jeunemaitre, François Brunotte, Arnaud Dellinger, Philippe Khau Van Kien, N. Salve, Gaetan Lesca, Jean-Eric Wolf, Limin Zhu, Alain Lalande, Annie Nivelon-Chevallier, Flavie Mathieu

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2004, 12 (3), pp.173-180. ⟨10.1038/sj.ejhg.5201119⟩
European Journal of Human Genetics, Nature Publishing Group, 2004, 12 (3), pp.173-180
Eur J Hum Genet
Eur J Hum Genet, 2004, 12 (3), pp.173-180

International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and thr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5443a03e874f4dd4c33886f26cbd4a
https://pubmed.ncbi.nlm.nih.gov/14722581