Results 81 to 90 of about 2,654 (190)

Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes

Egyptian Journal of Medical Human Genetics, 2015
Background: Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder with variable clinical manifestations, including chronic rhinosinusitis, otitis media, bronchitis, pneumonia, bronchiectasis, situs inversus totalis ...
Makia J. Marafie, Ibrahim S. Al Suliman, Abdullah M. Redha, Abdulrahman M. Alshati   +3 more
doaj   +1 more source

Different types of intranasal steroids for chronic rhinosinusitis [PDF]

, 2015
BACKGROUND: This review is one of six looking at the primary medical management options for patients with chronic rhinosinusitis.Chronic rhinosinusitis is common and is characterised by inflammation of the lining of the nose and paranasal sinuses leading
Burton, MJ, Chong, LY, Head, K, Hopkins, C, Philpott, C, Schilder, AG   +5 more
core   +2 more sources

An Unexpected Case of Somatic Mosaicism of the Dutch p16‐Leiden Founder Variant in the CDKN2A Gene

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
CDKN2A is the primary high‐risk predisposition gene for familial cutaneous melanoma. In the Netherlands, most carriers of pathogenic germline variants in CDKN2A harbor a unique, population‐specific founder variant, c.225_243del, commonly referred to as p16‐Leiden.
M. van der Meulen, J. T. van Wezel, D. Terlouw, J. Morreau, E. M. P. Steeghs, R. van Doorn, M. E. van Leerdam, A. M. Onnekink, M. C. de Ruiter, N. van der Stoep, T. P. Potjer, Balraj Mittal   +11 more
wiley   +1 more source

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review

Clinical Genetics, Volume 106, Issue 6, Page 667-678, December 2024.
Anomalies of the kidney and heart are the most commonly recognized congenital defects and constitute a major cause of morbidity in children. For example, STRING protein‐protein interaction network for the hepatocyte nuclear factor 1‐beta (HNF1B) gene with first‐tier functional interactions involving detection of glucose and exocrine pancreas ...
Amin J. Barakat, Merlin G. Butler
wiley   +1 more source

Kartagener’s Syndrome Presenting As Bilateral Recurrent Nasal Polyposis In A Young Boy

Journal of Bahria University Medical and Dental College, 2018
Kartagener's syndrome is a very rare congenital disease consists of a classic triad, sinusitis, situs inversus and bronchiectasis. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and Kartagener syndrome.
Zeba Ahmed, Warda Waseem, Uroosa Saman
doaj   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [PDF]

, 2014
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, R., Alkuraya, F.S., Almoisheer, A., Alshiddi, T., Alzahrani, F., Beales, P.L., Faqeih, E., Hashem, A., Holder, I., Lausch, E., Mitchison, H.M., Mitchison, H.M., Schmidts, M., Shaheen, R., Superti-Furga, A.   +14 more
core   +2 more sources

Collaboration between otolaryngologists and oral surgeons in maxillary sinus elevation planning

Clinical Implant Dentistry and Related Research, Volume 26, Issue 6, Page 1181-1189, December 2024.
Abstract Background The collaboration between otolaryngologists and dental providers is crucial for the planning and execution of maxillary sinus elevation (MSE) procedures, which are integral to successful dental implant placements. Purpose This article examines the essential role of otolaryngological assessments in identifying potential sinonasal ...
John R. Craig, Alberto Maria Saibene, Elena Giulia Felisati, Giovanni Felisati   +3 more
wiley   +1 more source

Molecular genetics of the immotile short tail sperm defect [PDF]

, 2012
v2009okDiss.
Sironen, Anu
core  

Persistent Bacterial Bronchitis: time to venture beyond the Umbrella [PDF]

, 2017
Chronic cough in children is common and frequently mismanaged. In the past, cough was diagnosed as asthma and inappropriate asthma therapies prescribed and esca- lated.
Bush, A
core   +1 more source

Anaesthetic Considerations for a Patient with Kartagener’s Syndrome Undergoing Emergency Surgery: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Kartagener Syndrome (KS) is a rare genetic disorder resulting from autosomal recessive inheritance and is characterised by ciliary dyskinesia. It typically presents with the distinctive triad of chronic sinusitis, situs inversus, and bronchiectasis. KS
Hansikaa Ravichandran, P Nandhini, P Rani   +2 more
doaj   +1 more source