Results 191 to 200 of about 127,509 (268)

Predictors of Immune Checkpoint Blockade Response in dMMR Colorectal Cancer Using an Integrated Immune-Enhanced Multiomics Platform. [PDF]

Clin Cancer Res
Sinicrope FA, Sharma N, Mohiuddin M, Saberzadeh-Ardestani B, Graham RP, Lewis JT, Li B, Abbott CW, Boyle SM.   +8 more
europepmc   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study. [PDF]

NPJ Genom Med
Audain E, Wilsdon A, Dombrowsky G, Sifrim A, Breckpot J, Perez-Riverol Y, Loughna S, Daly A, Antoniou P, Hofmann P, Perez-Riverol A, Kahlert AK, Bauer U, Pickardt T, Klaassen S, Berger F, Daehnert I, Dittrich S, Stiller B, Abdul-Khaliq H, Bu'lock F, Uebing A, Kramer HH, Iyer V, Larsen LA, Brook JD, Hitz MP.   +26 more
europepmc   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Genomic sequencing of multicystic mesothelioma finds cohesin complex mutations associated with disease recurrence in patients referred for cytoreductive surgery and HIPEC. [PDF]

Br J Cancer
Gibson J, Carr NJ, Stanford S, Mirandari A, Cecil TD, Pengelly RJ, Turner S, Essex JW, Boukas K, Hocking K, Dominguez M, Mohamed F, Dayal SP, Tzivanakis A, Moran BJ, Adeleke G, Mirnezami A, Ennis S.   +17 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report. [PDF]

Medicine (Baltimore)
Guo C, Zhu Y, Lu H, Liu K.
europepmc   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source