Results 71 to 80 of about 2,654 (190)

Disquinesia ciliar primaria en un bichon Frisé macho de un año de edad [PDF]

, 2002
Se describe el caso clínico de un Bichon Frisé macho de un año de edad, con signos respiratorios desde los dos meses de vida. El motivo de la consulta fue la presentación de un cuadro de tos crónica productiva de dos meses de duración y posibles ...
Planas, Anna, Rigau i Mas, Teresa, Rodríguez-Martínez, Heriberto, Ruiz de Gopegui i Fernández, Rafael, Rutllant Labeaga, Josep   +4 more
core  

Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

, 2015
Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining pathological features are fluid-filled cysts developing from nephric tubules due to defective flow sensing, cell proliferation and differentiation.
Alexander, R., Alvarado, A., Lakshmanaperumal, N., McClain, M., McKinney, S., Rink, J., Vu, H.   +6 more
core   +1 more source

A 0.5-Mbp deletion on bovine chromosome 23 is a strong candidate for stillbirth in Nordic Red cattle [PDF]

, 2016
201
de Koning, Dirk-Jan, Guldbrandtsen, Bernt, Iso-Touru, Terhi, Sahana, Goutam, Sander Nielsen, Ulrik, Sandø Lund, Mogens, Vilkki, Johanna, Wu, Xiaoping   +7 more
core   +5 more sources

Expanding MNS1 Heterotaxy Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT MNS1 (meiosis‐specific nuclear structural protein‐1 gene) encodes a structural protein implicated in motile ciliary function and sperm flagella assembly. To date, two different homozygous MNS1 variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948).
Julien Maraval, Andrée Delahaye‐Duriez, Caroline Racine, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Léa Gaudillat, Christel Thauvin‐Robinet, Marie Lucain, Véronique Satre, Charles Coutton, AURAGEN Consortium, Jean‐Madelaine de Sainte Agathe, Boris Keren, Laurence Faivre   +13 more
wiley   +1 more source

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

New Treatments Are Urgently Needed for Patients With All Primary Ciliary Dyskinesia Genotypes

Pediatric Pulmonology, Volume 60, Issue 11, November 2025.
Benjamin Gaston, Amjad Horani, Stephanie Davis, Thomas Ferkol, BreAnna Kinghorn, Margaret Rosenfeld, Adam Shapiro, Evans Machogu, Michael O'Connor, Harriet Holme, Michele Manion   +10 more
wiley   +1 more source

Progression of Otologic and Nasal Symptoms in Primary Ciliary Dyskinesia Throughout Childhood

OTO Open, Volume 9, Issue 1, January-March 2025.
Abstract Objective Primary ciliary dyskinesia (PCD) is characterized by upper and lower airway disease. Multiple studies have demonstrated the progression of pulmonary disease; however, longitudinal changes in the otologic and nasal symptoms have not been well described in patients.
Isabelle Dagher, Adam J. Kimple, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos E. Milla, Lang Li, Feng‐Chang Lin, Kelli M. Sullivan, Maimoona A. Zariwala, Michael R. Knowles, Margaret Rosenfeld, Margaret W. Leigh, Stephanie D. Davis, for the Genetic Disorders of Mucociliary Clearance Consortium   +14 more
wiley   +1 more source

Kartagener′s syndrome: A case series

Lung India, 2012
Kartagener′s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections,
Mayank Mishra, Naresh Kumar, Ashish Jaiswal, Ajay K Verma, Surya Kant   +4 more
doaj   +1 more source

A Case Report of Kartagener Syndrome

The Journal of Qazvin University of Medical Sciences, 2020
Primary Ciliary Dyskinesia (PCD) and Kartagener Syndrome (KS) are rare genetic disorders. PCD occurs in patients with recurrent sino-pulmonary infection, dextrocardia, chronic vasomotor rhinitis, and bronchiectasis.
Mahnaz Moradi, Leili Yekefallah, Mohammadali Zohal, Peyman Namdar   +3 more
doaj   +1 more source

An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia

Journal of Internal Medicine, Volume 297, Issue 1, Page 93-100, January 2025.
Abstract Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease. Due to difficulty accessing diagnostic services and a lack of awareness of the syndrome, clinicians often fail to recognize the classic phenotype, leading to missed diagnoses.
Wangji Zhou, Qiaoling Chen, Yaqi Wang, Anhui Guo, Aohua Wu, Xueqi Liu, Jinrong Dai, Shuzhen Meng, Christopher Situ, Yaping Liu, Kai‐Feng Xu, Weiguo Zhu, Xinlun Tian   +12 more
wiley   +1 more source