Results 91 to 100 of about 2,654 (190)

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility [PDF]

, 2016
Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases and 1,644 controls.
A McKenna, A Untergasser, AA Bizet, AJ Swerdlow, C Le Cornet, C Power, C Rusner, C Turnbull, C Turnbull, CC Chung, CG Ruf, CH Meyer, E Kharazmi, E Ruark, E van Rooijen, EA Rapley, EC de Haas, F Brancati, F Bray, G Lunter, GP Crockford, JA Sayer, JS Lucas, K Hemminki, K Litchfield, K Litchfield, K Litchfield, K Litchfield, K Litchfield, K Yuan, KA McGlynn, KA McGlynn, L Bujan, M Lek, M Uhlen, M Wirschell, MA DePristo, MJ Landrum, N Dagoneau, N Rahman, NT Loges, P Schraml, PA Kanetsky, PA Kanetsky, S Richards, SE Bojesen, SG Basten, SG Basten, SY Wong, T Rattei, W Kristiansen   +50 more
core   +4 more sources

Eosinophilic Pneumonia Triggered by Toxocara canis in a Patient with Primary Ciliary Dyskinesia: A Clinical Case Report

Medicina
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system.
Kacper Packi, Wanda Fugiel, Violetta Gołąbek, Alicja Rudek, Agnieszka Śliwińska   +4 more
doaj   +1 more source

Kartagener syndrome: Case report. [PDF]

, 2017
Kartagener’s syndrome is an autosomal recessive disease, characterized by primary ciliary dyskinesia, which consists of ciliated cell dysfunction. This is the cause of the manifestation of the respiratory symptomatology that presents this syndrome-cough,
Cárcamo, Gloria, Fajardo, German, Flores, Brigitte, Rivera, Velia   +3 more
core   +2 more sources

Biological Fluid Mechanics Under the Microscope: A Tribute to John Blake

, 2018
John Blake (1947--2016) was a leader in fluid mechanics, his two principal areas of expertise being biological fluid mechanics on microscopic scales and bubble dynamics. He produced leading research and mentored others in both Australia, his home country,
Smith, David J.
core   +1 more source

KARTAGENER SYNDROME

The Professional Medical Journal, 2007
We are reporting a case of Kartagener syndrome in a 19 year old young male, who presented to uswith chronic sinusitis, bronchiectasis and dextrocardia.
KHALID AMIN, MASOOD JAVED, AAMIR HUSAIN, Shahid Abbas, Abid Raza   +4 more
openaire   +2 more sources

Radial Spoke Proteins of \u3cem\u3eChlamydomonas\u3c/em\u3e Flagella [PDF]

, 2006
The radial spoke is a ubiquitous component of `9+2\u27 cilia and flagella, and plays an essential role in the control of dynein arm activity by relaying signals from the central pair of microtubules to the arms. The Chlamydomonas reinhardtii radial spoke
Agrin, Nathan S., Diener, Dennis R., Dienes, Jennifer M., Kamiya, Ritsu, King, Stephen M., Kohno, Takahiro, Pazour, Gregory J., Rosenbaum, Joel L., Sale, Winfield S., Witman, George B., Yang, Chun, Yang, Pinfen   +11 more
core   +1 more source

Kartagener′s syndrome in a fertile male - An uncommon variant

Lung India, 2006
Primary ciliary dyskinesia, with Kartagener′s syndrome as one of the subsets, is an autosomal recessive disorder with significant genetic heterogeneity.
Barthwal M
doaj  

Management of COVID-19 in a Patient with Kartagener Syndrome: A Case Report [PDF]

The unprecedented global health challenge posed by COVID-19, caused by SARS-CoV-2, has driven research into its diverse clinical manifestations and underlying pathophysiological mechanisms.
Aleman Espino, Andy, Frontela, Odalys, Kazaleh, Mallory, Monteagudo, Hamlet, Patel, Shivani, Ramesh Babu, Yatin   +5 more
core   +1 more source

KARTAGENER SYNDROME [PDF]

Medical Journal Armed Forces India, 2002
Amit, Devgan, Mng, Nair, S K, Jatana
openaire   +2 more sources

Persistent cough and situs inversus in a middle‐aged female

Respirology Case Reports
Key message Kartagener syndrome, a rare genetic disorder, can present in adults with persistent respiratory symptoms and radiological changes, such as bronchiectasis and situs inversus.
Besharat Rahimi, Ghazal Roostaei, Hossein Kazemizadeh, Maryam Edalatifard, Niloofar Khoshnam‐Rad   +4 more
doaj   +1 more source