Results 191 to 200 of about 418,967 (342)

Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the <i>APC</i> Promotor 1B Variant c.-191T > C. [PDF]

Case Rep Genet
Skat-Rørdam PA, Jelsig AM, Karstensen JG, Petersen AH, Madsen MB, Jensen TD.   +5 more
europepmc   +1 more source

Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina

, 2018
Rosario Ramos Mejía, Mercedes Rodríguez Celin, Virginia Fano   +2 more
openalex   +1 more source

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C [PDF]

, 2002
Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, A. Leclerc, Maria Rosaria D’Apice, Catherine Massart, Francesca Capon, Paolo Sbraccia, Massimo Federici, Renato Lauro, Cosimo Tudisco, R Pallotta, Gioacchino Scarano, Bruno Dallapiccola, Luciano Merlini, Gisèle Bonne   +15 more
openalex   +1 more source

Spectral entropy variability of intraoperative electrocorticography predicts outcome after epilepsy surgery in people with focal cortical dysplasia

Epilepsia, EarlyView.
Abstract Objective Epilepsy surgery in people with focal cortical dysplasia (FCD) requires accurate removal of all epileptogenic tissue, and outcome is difficult to predict. We explored whether spectral entropy, a fast computable electroencephalographic (EEG) feature, could estimate epileptic activity in intraoperative electrocorticography (ioECoG) and
Eline V. Schaft, Sem Hoogteijling, Dongqing Sun, Cyrille H. Ferrier, Pieter van Eijsden, Wim M. Otte, Galia Anguelova, Nick F. Ramsey, Maryse A. van't Klooster, Maeike Zijlmans, on behalf of the RESPect database study group, Charlotte van Asch, Lydia van de Berg, Dorien van Blooijs, Kim Boshuisen, Mireille Bourez, Kees Braun, Jan Willem Dankbaar, Matteo Demuru, Pieter van Eijsden, Cyrille Ferrier, Tineke Gebbink, Fernando Gomez‐Acebo Ruiz, Peter Gosselaar, Kimberley Grasmeijer, Renate van Griethuysen, Jiaojiao Guo, Irene Heijink, Monique Hobbelink, Friso Hoefnagels, Sem Hoogteijling, Geertjan Huiskamp, Sarah Jacobs, Floor Jansen, Susanne Jelsma, Nicole van Klink, Merel Koopmans, Frans Leijten, Wouter Maathuis, Mariska Mantione, Angelika Muhlebner, Brechje Olgers, Janine van Ophorst, Miranda Postma, Sandra van der Salm, Eline Schaft, Anniek van Schaik, Monique van Schooneveld, Dongqing Sun, Ziyi Wang, Martine van Zandvoort, Eva Zuidhoek, Willemiek Zweiphenning, Jack Zwemmer   +53 more
wiley   +1 more source

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study

Epilepsia, EarlyView.
Abstract Objective The thalamus is a key hub in seizure propagation, and its nuclei are emerging targets for neuromodulation. However, the contributions of individual nuclei to epileptic networks remain unclear, particularly in children, who are less studied than adults.
Xiyu Feng, Aswin Chari, Maria H. Eriksson, Freya Prentice, Xiaosong He, Hua Xie, Leigh Sepeta, M. Zubair Tahir, Jonathan D. Clayden, Martin M. Tisdall, Torsten Baldeweg, Rory J. Piper   +11 more
wiley   +1 more source

Underestimation of the horizontal extent of ulcerative colitis-associated neoplasia may lead to incomplete endoscopic resection and subsequent recurrence. [PDF]

Therap Adv Gastroenterol
Murakami S, Sugimoto S, Iwao Y, Takabayashi K, Kiyohara H, Yoshimatsu Y, Sakakibara R, Kaieda Y, Shigehara A, Hosoe N, Kato M, Mikami Y, Kanai T.   +12 more
europepmc   +1 more source

The sensitivity of laryngeal findings in predicting high‐grade dysplasia in patients with vocal fold leukoplakia undergoing office‐based biopsies: A retrospective analysis of 100 cases [PDF]

Jad Hosri, Jessica Aoun, Yara Yammine, Justin Ghadieh, Abdul‐Latif Hamdan   +4 more
openalex   +1 more source

Inroads into epilepsy through high‐frequency oscillations: Achievements and benchmark areas for improvement

Epilepsia, EarlyView.
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras, Birgit Frauscher, Jean Gotman, Julia Jacobs, Philippe Kahane, Richard J. Staba, Maeike Zijlmans   +6 more
wiley   +1 more source

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia [PDF]

, 2003
Elisabeth Sock
openalex   +1 more source

Genetic Syndromes and Skeletal Dysplasia Associated with Short Stature - A Case Series

, 2023
Tushar Agarwal, I. P. S. Kochar, Vineet Bhushan Gupta, Kriti Menon   +3 more
openalex   +1 more source