Results 101 to 110 of about 81,851 (305)

CLINICAL CASE OF THE YOUNG PATIENT WITH ISCHEMIC STROKE AND GENETICALLY CAUSED THROMBOPHILIC PREDISPOSITION

Инновационная медицина Кубани, 2019
We present a clinical case of an ischemic stroke in a young man, 37 years in the setting of severe cardiac pathology (coronary heart disease, repeated myocardial infarctions with a cardiomyopathy and progressing chronic heart failure).
Yu. A. Bursa, L. V. Timchenko, M. V. Kolodina   +2 more
doaj   +2 more sources

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

A translocation heterozygote in garden Canna

, 1966
A case of translocation heterozygosity has been discovered in gardenCanna. Morphologically the heterozygote is distinctive, being a pygmy type with small flowers which do not open. Cytologically it shows a ring or a chain of 4 plus 7 bivalents.
Mukherjee, Iva, Khoshoo, T. N.
core   +1 more source

Genotyping of mannose-binding lectin (MBL2) codon 54 and promoter alleles in Egyptian infants with acute respiratory tract infections

Egyptian Journal of Medical Human Genetics, 2014
Background: MBL2 gene polymorphisms affect serum concentration of mannose-binding lectin and are associated with infectious conditions. Acute respiratory tract infections are among the most prevalent infections in childhood with the highest incidence ...
Rabah M. Shawky, Sherine M. Abd El-Fattah, Tarek M. Kamal, Mohammed A. Esa, Ghada H. El Nady   +4 more
doaj   +1 more source

Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

A Randomized, Sham‐Controlled Trial of Repetitive Transcranial Magnetic Stimulation Targeting M1 and S2 in Central Poststroke Pain: A Pilot Trial

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Central poststroke pain (CPSP), a neuropathic pain condition, is difficult to treat. Repetitive transcranial magnetic stimulation (rTMS) targeted to the primary motor cortex (M1) can alleviate the condition, but not all patients respond. We aimed to assess a promising alternative rTMS target, the secondary somatosensory cortex (S2),
Juhani Ojala, Jukka Vanhanen, Hanna Harno, Pantelis Lioumis, Selja Vaalto, Mari A. Kaunisto, Jukka Putaala, Marko Kangasniemi, Erika Kirveskari, Jyrki P. Mäkelä, Eija Kalso   +10 more
wiley   +1 more source

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations [PDF]

, 2010
Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations.
Steffensen, Ane Y, Jønson, Lars, Thomas V. O. Hansen, Ejlertsen, Bent, Nielsen, Finn C, Anne-Marie Gerdes, Gerdes, Anne-Marie, Bent Ejlertsen, Finn C. Nielsen, Hansen, Thomas V O, Lars Jønson, Ane Y. Steffensen   +11 more
core   +1 more source

MHC allele frequency distributions under parasite-driven selection: A simulation model

BMC Evolutionary Biology, 2010
Background The extreme polymorphism that is observed in major histocompatibility complex (MHC) genes, which code for proteins involved in recognition of non-self oligopeptides, is thought to result from a pressure exerted by parasites because parasite ...
Radwan Jacek, Babik Wiesław, Ejsmond Maciej   +2 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source