Results 121 to 130 of about 1,224,037 (184)

PIH1D2 Loss‐of‐Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia

Liver International, Volume 46, Issue 11, November 2026.
ABSTRACT Background & Aims Laterality disorders are rare congenital conditions caused by disruption of left–right embryonic patterning, often associated with ciliary dysfunction. Despite the identification of numerous causative genes, the molecular basis remains unresolved in many patients.
Alina Kurolap, Chofit Chai Gadot, Adel Shalata, Orly Eshach Adiv, Yam Amir, Bar Levy Lando, Florian Stehling, Tova Hershkovitz, Khaled Osman, Clair Habib, Hila Mintz, Ran Steinberg, Amit Hochberg, Uri Hamiel, Adi Mory, Daphna Marom, Sandra von Hardenberg, Amihood Singer, Bernd Auber, Hagit Baris Feldman   +19 more
wiley   +1 more source

Epidemiological investigation of fetal laterality disorders in multiple hospitals in coastal Southeastern China before and after the COVID-19 pandemic (2017–2024)

Frontiers in Medicine
BackgroundFetal laterality disorders are rare congenital anomalies including situs inversus, partial heterotaxy, and heterotaxy syndrome. They are associated with increased risks of conditions such as congenital heart defects and primary ciliary ...
Biying Huang, Zongjie Weng, Qiuxia Jiang, Fa Chen, Guorong Lyu, Zhilan Wang, Jiansu Hu, Xiuqin Wu, Xianlian Su, Wen Ling, Qiumei Wu   +10 more
doaj   +1 more source

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

, 2019
About 1% of all newborns are affected by congenital heart disease (CHD). Recent findings identify aberrantly functioning cilia as a possible source for CHD.
Hempel, Maja, Philipp, Melanie, Angenendt, Max, Donow, Cornelia, Pennekamp, Petra, Omran, Heymut, Sridhar, Arthi, Burkhalter, Martin D., Jacinto, Raquel, Walther, Paul, Ware, Stephanie M., Sampaio, Pedro, Burczyk, Martina S., Lopes, Susana S., Competence Network for Congenital Heart Defects Investigators   +14 more
core   +1 more source

Analysis of associated malformations by computed tomography in adults with polysplenia syndrome: A pilot study.

PLoS ONE
ObjectiveTo analytically depict the associated malformations of polysplenia syndrome (PS) in adults via computed tomography (CT).Materials and methodsThe incidence of malformations associated with PS in twelve adult patients was retrospectively analyzed ...
Xinru Gu, Shuangshuang Xu, Jinghua Chen, Xiaoqin Jiang, Ping Xie, Xiang Fang, Yan Gao, Jian Huang, Kefu Liu   +8 more
doaj   +1 more source

Congenital heart disease and inverse situs as a prenatal expression of Ivemark Syndrome

Universidad Médica Pinareña, 2019
Introduction: Ivemark Syndrome is a rare congenital condition that affects multiple organs of the body; it is classified as a disorder of heterotaxiaor laterally disorder.
Melissa Toledo Licourt, Ana Laura Tellez García, Deysi Licourt Otero   +2 more
doaj  

Splenic Torsion in Heterotaxy Syndrome with Left Isomerism: A Case Report and Literature Review. [PDF]

Diagnostics (Basel), 2022
Cheang IN, Fu YW, Chin TW, Hsu YJ, Wu CY.   +4 more
europepmc   +1 more source

Heterotaxy Syndrome: Discordant Growth. [PDF]

Cureus, 2021
Yadav P, Ajmera P, Krishnamurthy S, Nandivada NB.   +3 more
europepmc   +1 more source

Heterotaxy syndrome with polysplenia: case report [PDF]

Heterotaxy syndrome (HS) or situs ambiguus is a rare condition, more common in women, in which internal organs are abnormally arranged within the thoracic and abdominal cavities. The condition may manifest as asplenia or polysplenia, characterized by the
Moreira, Sarah Verdan, Marcos, Vinícius Neves, Scapim, Stephania Neves, Ferreira, Priscila Rizutti   +3 more
core   +1 more source

Diffuse hepatocellular carcinoma secondary to cardiac cirrhosis in heterotaxy syndrome. [PDF]

BMJ Case Rep, 2022
Mathavan A, Mathavan A, Hones K, Altshuler E.   +3 more
europepmc   +1 more source

Risk Factors for Adverse Outcome in Fetuses With Heterotaxy Syndrome and Congenital Heart Disease. [PDF]

Prenat Diagn
Szwast A, Savla JJ, Penney C, Sharma P, Rychik J.   +4 more
europepmc   +1 more source