Results 181 to 190 of about 48,964 (396)

Registros hospitalarios de ictus: similitudes y diferencias

, 2016
Adrià Arboix, G. Rosselló-Vicens
openalex   +1 more source

El impacto del polimorfismo en el Codón 72 del GEN TP53 en el pronóstico del ictus: participación de los mecanismos de muerte celular programada [PDF]

, 2010
José Carlos Gómez Sánchez
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

[Epilepsy in Patients With Moyamoya Angiopathy]. [PDF]

Rev Neurol
Bautista-Lacambra M, Garayoa-Irigoyen V, Tique-Rojas LF, Seral-Moral M, Moles-Herbera J, López-Lafuente A, Barrena-Caballo R, Tejero-Juste C, Palacín-Larroy M, Tejada-Meza H.   +9 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Changes in hemorrhage pattern on consecutive non-contrast CT scans in non-aneurysmal subarachnoid hemorrhage patients. [PDF]

Brain Spine
van den Berg R, Dronkers W, Berkhemer O, Karbe A, Germans M, Vandertop WP, Emmer BJ, Verbaan D.   +7 more
europepmc   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

A Composite Model - "VASS-DCI" - for Delayed Cerebral Ischemia Following Aneurysmal Subarachnoid Hemorrhage: Role of VASOGRADE and Inflammatory Biomarkers. [PDF]

Indian J Crit Care Med
Sharma P, Muthuchellappan R, Francis T, Sharma P, Mallesha SH, Nagaraja S.   +5 more
europepmc   +1 more source

Predicting the Rate of Cognitive Decline in Alzheimer Disease: Data From the ICTUS Study

Alzheimer Disease and Associated Disorders, 2016
M. Canevelli, E. Kelaiditi, N. Del Campo, G. Bruno, B. Vellas, M. Cesari   +5 more
semanticscholar   +1 more source

Pseudooclusión carotídea: un concepto a tener en cuenta en el ictus agudo

Neurología, 2020
H. Tejada Meza, J. Artal Roy, M. Serrano Ponz, S. Guelbenzu Morte, J. Marta Moreno   +4 more
doaj   +1 more source