Results 71 to 80 of about 743 (164)

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

BMC Health Services Research, 2018
Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and ...
Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin   +5 more
doaj   +1 more source

Oral Levodopa Therapy, Vitamin B6 and Peripheral Neuropathy: A Cross‐Sectional Observational Study

Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 120-122, January 2025.
Catherine Déry, Charlie Buchmann, Geneviève Labrecque, Vicky Caron, David Simonyan, Mathieu Blais, Manon Bouchard, Nicolas Dupré   +7 more
wiley   +1 more source

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-428, March 2024.
Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems   +10 more
wiley   +1 more source

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-429, March 2024.
Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems   +10 more
wiley   +1 more source

The neurofibromatoses: when less is more [PDF]

Human Molecular Genetics, 2001
The study of cancer predisposition syndromes presents unique opportunities to gain insights into the genetic events associated with tumor pathogenesis. Individuals with two inherited cancer syndromes, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), develop both benign and malignant tumors. The corresponding genes mutated in these two disorders
openaire   +2 more sources

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Orphanet Journal of Rare Diseases, 2011
Background Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited.
Hadj-Rabia Smaïl, Ferkal Salah, Vialette Cédric, Valeyrie-Allanore Laurence, Sbidian Emilie, Duong Tu, Glorion Christophe, Lyonnet Stanislas, Zerah Michel, Kemlin Isabelle, Rodriguez Diana, Bastuji-Garin Sylvie, Wolkenstein Pierre   +12 more
doaj   +1 more source

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais

Anais Brasileiros de Dermatologia, 2013
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico   +2 more
doaj  

Utilização da tração halo-craniana pré-operatória no tratamento de deformidades vertebrais de alto valor angular Uso de tracción halo gravitacional en el tratamiento quirúrgico de las deformidades graves de la columna vertebral Halo gravity preoperative traction in severe spine deformities treatment

Coluna/Columna, 2010
OBJETIVOS: avaliar o resultado do tratamento cirúrgico das deformidades acentuadas da coluna vertebral por meio da utilização da tração halo-gravitacional.
Maximiliano Aguiar Porto, Carlos Fernando Pereira da Silva Herrero, Marcello Henrique Nogueira-Barbosa, Helton LA Defino   +3 more
doaj   +1 more source

Schwannomas in the head and neck: retrospective analysis of 21 patients and review of the literature

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Schwannomas are benign neoplasms of the peripheral nerves originating in the Schwann cells. According to their cellularity, they can be subdivided into Antoni A or Antoni B types.
Erwin Langner, André Del Negro, Hugo Kenzo Akashi, Priscila Pereira Costa Araújo, Alfio José Tincani, Antonio Santos Martins   +5 more
doaj   +1 more source

Potential Molecular Targets in the Treatment of Patients with CNS Tumors. [PDF]

Cancers (Basel), 2023
Pan E.
europepmc   +1 more source