Results 61 to 70 of about 16,014 (252)

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Case Reports in Medicine, 2023
Background. Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance.
Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei   +8 more
doaj   +1 more source

Cephalosporin-3’-diazeniumdiolate NO-donor prodrug PYRRO-C3D enhances azithromycin susceptibility of non-typeable Haemophilus influenzae biofilms [PDF]

, 2016
The file attached to this record is the author's final peer reviewed version. The Publisher's final version can be found by following the DOI link.Objectives: PYRRO-C3D is a cephalosporin-3-diazeniumdiolate nitric oxide (NO)-donor prodrug designed to ...
Allan, Raymond N., Coles, J., Collins, S. A., Connett, G., Faust, S. N., Feelisch, M., Hall-Stoodley, L., Halladay, G. D., Jackson, C. L., Kelso, M. J., Lucas, J. S. A., Rineh, A., Walker, W. T., Webb, J. S., Yepuri, N. R.   +14 more
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 [PDF]

, 2016
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid.
Al-Turki, Saeed, Allan, Daly, Amselem, Serge, Anderson, Carl, Antonarakis, Stylianos E., Antony, Dinu, Armengot, Miguel, Aurora, Paul, Barroso, Inês, Bartoloni, Lucia, Beales, Philip L., Bentham, Jamie, Bevillard, Jeremy, Bhattacharya, Shoumo, Blouin, Jean-Louis, Boustred, Christopher, Bush, Andrew, Cahill, Thomas, Carss, Keren, Chantot, Sandra, Chatterjee, Krishna, Chung, Eddie M. K., Cirak, Sebahattin, Copin, Bruno, Cosgrove, Catherine, Cullup, Thomas, Dixon, Mellisa, Duquesnoy, Philippe, Durbin, Richard, Dyer, Laura, Emes, Richard D., Escudier, Estelle, Fassad, Mahmoud R., Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chris, Futema, Marta, Garin, Antoine, Gehrig, Corinne, Goldenberg, Alice, Guipponi, Michel, Hayward, Jane, Hogg, Claire, Humphries, Steve E., Hurles, Matt, Jeanson, Ludovic, Jenkins, Lucy, Kiviluoto, Santeri, Legendre, Marie, Loebinger, Michael R., McCarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, Munye, Mustafa M., Olcese, Chiara, Onoufriadis, Alexandros, Papon, Jean- François, Parker, Victoria, Patel, Mitali P., Payne, Felicity, Pin, Isabelle, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter J., Schmidts, Miriam, Semple, Robert, Serra, Eva, Shoemark, Amelia, Stalker, Jim, Sun, Zhaoxia, Tamalet, Aline, Thauvin-Robinet, Christel, Thomas, Lucie, van Kogelenberg, Margriet, Vaughan, Cara K., Vera, Gabriella, Vijayarangakannan, Parthiban, Walter, Klaudia, Williams, Hywel J., Wilson, Robert   +82 more
core   +9 more sources

Chinese Guidelines for Diagnosis and Treatment of Chronic Rhinosinusitis (2024)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Chronic rhinosinusitis (CRS), a complex inflammatory disease with heterogeneous pathogenesis, demands evolving evidence‐based strategies. Since the 2018 Chinese guidelines and EPOS2020, international advances in CRS immunopathology and biologics have revolutionized therapeutic approaches, particularly through phenotype–endotype classification ...
Subspecialty Group of Rhinology, Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery, Subspecialty Group of Rhinology, Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association   +4 more
wiley   +1 more source

Primary Ciliary Dyskinesia

The British journal of general practice : the journal of the Royal College of General Practitioners, 1993
Zariwala MA, Despotes KA, Davis SD.
europepmc   +2 more sources

Obesity and Its Impact on Endoscopic Sinus Surgery Outcomes in Patients With Chronic Rhinosinusitis With Nasal Polyps

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Purpose The rising prevalence of obesity introduces challenges in surgical contexts, including endoscopic sinus surgery (ESS) for chronic rhinosinusitis with nasal polyps (CRSwNP). However, the impact of obesity on ESS outcomes remains underexplored. This study aims to evaluate the association between obesity and surgical complexity, operative
Hen Chaushu, Narin Nard Carmel Neiderman, Yuval Presman, Alexandra Dorman, Roni Vass, Nidal Muhanna, Avraham Abergel   +6 more
wiley   +1 more source

Multilocus genetic models of handedness closely resemble single-locus models in explaining family data and are compatible with genome-wide association studies. [PDF]

, 2013
Right- and left-handedness run in families, show greater concordance in monozygotic than dizygotic twins, and are well described by single-locus Mendelian models.
Annett M., Crow T.J., Deary I.J., Fliegauf M., Levy J., McManus I.C., McManus I.C., McManus I.C., McManus I.C., McManus I.C., Medland S.E., Palmer A.R.   +11 more
core   +1 more source

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, EarlyView.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

Primary ciliary dyskinesiatwo cases reports

Journal of Mazandaran University of Medical Sciences, 2009
(Received 22 December, 2009 ; Accepted 10 March, 2010)AbstractPrimary ciliary dyskinesia and Kartagener's syndrome are rare genetic disorders. There is a ciliary dysfunction in these disorders that cause recurrent infections in respiratory and sinus ...
Mohammad Sadegh Rezaee1, Iraj Mohammadzadeh2, Mohammadjafar Saffar1, Javad Ghaffari1   +3 more
doaj