Results 81 to 90 of about 4,530,510 (207)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, Volume 11, Issue 5, Page 1395-1412, October 2026.
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

Primary ciliary dyskinesia (Pcd) in Austria

, 2009
Primary ciliary dyskinesia (PCD) is a rare hereditary recessive disease with symptoms of recurrent pneumonia, chronic bronchitis, bronchiectasis, and chronic sinusitis.
STRIPPOLI MP, KUEHNI CE, LESIC I, FRISCHER T, MAURER E, BARBATO, ANGELO, ERS TASKFORCE ON PRIMARY CILIARY DYSKINESIA IN CHILDREN   +6 more
core  

Demographic information and clinical characteristics of the study population of people with primary ciliary dyskinesia (COVID-PCD study, N = 747).

, 2023
Demographic information and clinical characteristics of the study population of people with primary ciliary dyskinesia (COVID-PCD study, N = 747).
Eva Sophie Lunde Pedersen (5390816), Jane S. Lucas (7743599), Isabelle Cizeau (16964951), Catherine Kruljac (11840030), Claudia E. Kuehni (7583648), Leonie Daria Schreck (16964948), Loretta Müller (575079), Myrofora Goutaki (4044983)   +7 more
core   +1 more source

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

Molecular Genetics & Genomic Medicine, 2019
Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intellectual disability ...
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala   +8 more
doaj   +1 more source

Respiratory profile of pediatric patients undergoing hematopoietic stem cell transplantation studied by oscillometry – A TRANSPIRE cohort

Pediatric Investigation, Volume 10, Issue 5, Page 395-403, October 2026.
These are results from a multi‐center collaboration between four large pediatric institutions, investigating baseline respiratory system function in a cohort of children undergoing hematopoietic stem cell transplantation. This manuscript proposes respiratory oscillometry as a novel way to prospectively follow lung function in these children.
Maureen B. Parenti, Julian Allen, Lisa R. Young, Heather Boas, Jason Freedman, Christopher Towe, Jane Koo, Kasiani Myers, Jason C. Woods, Adam Lane, Jonathan Gaffin, Wai Wong, Leslie Lehmann, Fernando Urrego, Gabriel Salinas Cisneros, Matthew F. Abts, K. Scott Baker, Manuel Silva‐Carmona, Erin Doherty, Paul D. Robinson, Margaret MacMillan, Stella M. Davies, Samuel B. Goldfarb   +22 more
wiley   +1 more source

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report [PDF]

, 2017
KEY POINTS Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force ...
Lucas, Jane S, Kuehni, Claudia E., Kuehni, Claudia E, Claudia E. Kuehni, Jane S. Lucas, Lucas, Jane, Lucas JS, Kuehni CE   +7 more
core   +2 more sources

Primary ciliary dyskinesia: A review

Rare
Context: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by impaired mucociliary clearance in the respiratory tract due to abnormal ciliary motility. The disease is often diagnosed late with bronchiectasis.
Shally Awasthi, Shambhavi Mishra
doaj   +1 more source

Clinical case of the month. An unusual cause of bronchiectasis: primary ciliary dyskinesia [PDF]

, 2002
peer reviewedWe report a case of bronchiectasis due to primary ciliary ...
Thonnart, F, HERMANS, Gilberte, CORHAY, Jean-Louis, Lousberg, Laurent, BLAISE, Pierre   +4 more
core  

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Alexithymia in primary ciliary dyskinesia

Pediatric Pulmonology
AbstractObjectiveRecent evidence suggests that alexithymic deficits in emotional processing may also affect physical health, and alexithymia may also be associated with organic disorders. The emotional well‐being of patients with primary ciliary dyskinesia (PCD) is often negatively affected by uncertainty about the prognosis, lack of ongoing medical ...
Hanife Tuğçe Çağlar, Sevgi Pekcan, Semih Erden, Gökçen Ünal, Aslı İmran Yılmaz, Fatih Ercan, Suat Savaş, Fatma Nur Ayman, Hasan Arif İstanbullu   +8 more
openaire   +2 more sources