Results 81 to 90 of about 2,776 (190)

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

UCSF segmental schwannomatosis #2, tumor a, SOX10 immunostain

, 2023
SOX10 immunostained section from tumor a of UCSF segmental schwannomatosis patient #2 with somatic mosaic SOX10 indel mutation.
David Solomon (4497931)
core   +1 more source

Schwannomatosis [PDF]

Neurology, 2008
Alexey, Surov, Malte, Kornhuber, Curd, Behrmann   +2 more
openaire   +2 more sources

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

, 2015
OBJECTIVES: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. METHODS: We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated ...
Daly, Sarah, Evans, Gareth; id_orcid, O'Sullivan, James; id_orcid, Rustad, Cecilie F, Urquhart, Jill, Fryer, Alan, Anderson, Beverley, Beetz, Christian, Smith, Miriam; id_orcid, Bhaskar, Sanjeev S, du Plessis, Daniel, Samii, Amir, Williams, Simon; id_orcid, Newman, William; id_orcid, Isidor, Bertand, Barbarot, Sebastien, Mills, Samantha J, Bourdeaut, Franck, Richer, Wilfrid, Halliday, Dorothy   +19 more
core   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology

Histopathology, Volume 88, Issue 7, Page 1291-1294, June 2026.
Ian A Cree, Mark J Arends, Joseph D Khoury, Erika RE Denton, Anthony J Gill, Alexander J Lazar, Ian M Frayling, Stefan M Pfister, Mark A Rubin, Katia RM Leite, Raymond Dalgleish, Elspeth A Bruford, Sharon Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

Journal of Medical Genetics
Objectives New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling).
Claire Forde, Miriam J Smith, George J Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette Buttimore, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, D Gareth Evans   +22 more
openaire   +4 more sources

sj-docx-1-ctj-10.1177_17407745231201345 – Supplemental material for Advancing neurofibromatosis and schwannomatosis clinical trial design: Consensus recommendations from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration

, 2023
Supplemental material, sj-docx-1-ctj-10.1177_17407745231201345 for Advancing neurofibromatosis and schwannomatosis clinical trial design: Consensus recommendations from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS ...
Scott R Plotkin (16019131), Andrea M Gross (17070021), Brigitte C Widemann (16019125), Vanessa L Merker (17072368)   +3 more
core   +1 more source

UCSF segmental schwannomatosis #2, tumor a, CD34 immunostain

, 2023
CD34 immunostained section from tumor a of UCSF segmental schwannomatosis patient #2 with somatic mosaic SOX10 indel mutation.
David Solomon (4497931)
core   +1 more source

18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report

Frontiers in Medicine
Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma.
Xiaotian Li, Xiaotian Li, Xianwen Hu, Pan Wang, Jiong Cai   +4 more
doaj   +1 more source

UCSF segmental schwannomatosis #2, tumor b, H&E

, 2023
H&E stained section from tumor b of UCSF segmental schwannomatosis patient #2 with somatic mosaic SOX10 indel mutation.
David Solomon (4497931)
core   +1 more source