Results 101 to 110 of about 1,537,452 (154)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

S1 guideline sweat gland carcinoma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 9, Page e1356-e1385, September 2026.
Summary The current classification of sweat gland carcinomas is based on histomorphological characteristics and distinguishes between more than 20 entities. Most patients are older, but some subtypes also affect middle‐aged and younger patients. The majority of tumors arise de novo. Sweat gland carcinomas have nonspecific clinical features.
Mirjana Ziemer, Michael Erdmann, Abbas Agaimy, Jürgen C. Becker, Almut Böer‐Auer, Doris Helbig, Cornelia Erfurt‐Berge, Alexander Frisman, Conrad Hempel, Ulrike Leiter, Friedegund Meier, Thomas Mentzel, Lara Racz, Silke Redler, Stefan Schliep, Clemens Seidel, Alpaslan Tasdogan, Jochen Utikal, Carsten Weishaupt, Selma Ugurel   +19 more
wiley   +1 more source

Immunhistokjemisk påvisning av mismatch repair-proteiner [PDF]

, 2019
Bakgrunn: Immunhistokjemisk farging av vevssnitt kan påvise mismatch repair (MMR)- proteinene MLH1, PMS2, MSH2 og MSH6, som normalt uttrykkes i cellekjernen. Tap av en eller flere av disse kan indikere Lynch syndrom.
Amundlien, Eirin, Wålberg, Lise Eid, Sandberg, Renate   +2 more
core   +1 more source

Constitutional mismatch repair-deficiency syndrome

Haematologica, 2010
Katharina Wimmer, Christian P. Kratz
doaj   +1 more source

Private Transport Accessibility to Basic Services in Rural Germany: Comparative Indices of Car and Walking

The Geographical Journal, Volume 192, Issue 3, September 2026.
Short Abstract This paper develops two nationwide composite indices of basic‐service accessibility in Germany, capturing car‐based and walking conditions as proxies for high‐ and low‐mobility access, by aggregating existing 250‐ × 250‐m grid‐based accessibility measures using the Mazziotta–Pareto method.
Stefan Neumeier
wiley   +1 more source

More of the Same: A Document Analysis of the Government's Response to Ageing with Intellectual Disabilities in Hong Kong

Journal of Policy and Practice in Intellectual Disabilities, Volume 23, Issue 3, September 2026.
ABSTRACT As the population of people ageing with intellectual disabilities grew in the 1980s, the Hong Kong government supported research exploring their needs and recommended a range of initiatives, including the promotion of community inclusion. This study aimed to identify how the government has understood and responded to the ‘problem’ of people ...
Kangwei Xun, Christine Bigby, Tal Araten‐Bergman   +2 more
wiley   +1 more source

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis

Experimental and Molecular Pathology
Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains unclear for many variants because of conflicting results between clinical, molecular, and ...
Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen   +16 more
doaj   +1 more source

Development of a diagnostic functional assay for constitutional mismatch repair deficiency [PDF]

Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome greatly increasing the risk of developing blood, brain and gastrointestinal cancers in children and adolescents. The underlying defect is an absence of
Shuen, Andrew Yin
core   +1 more source

Pediatric Awake Craniotomy Within a Structured Perioperative Pathway: A Case Report of Anesthesiologic Management for Recurrent Astrocytoma in a 10-Year-Old Child

Children
Background: Awake craniotomy is well established in adult neurosurgery for lesions near eloquent cortical areas, but its use in children remains uncommon and presents substantial anesthetic, psychological, and organizational challenges.
Francesco Smedile, Dario Cirillo, Alessandro Vittori, Mariangela Padua, Andrea Carai, Alessandra Savioli, Antonella Cacchione, Alessandro De Benedictis, Rosanna Pariante, Corrado Cecchetti   +9 more
doaj   +1 more source

Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome: A Case Report of a Patient With Multiple Metachronous Malignancies. [PDF]

Cureus, 2023
Bin Naeem S, Ullah N, Jhatial MA, Muzaffar S, Abbas M, Iftikhar I, Jameel A, Masood Sheikh R.   +7 more
europepmc   +1 more source