Results 101 to 110 of about 2,073,380 (162)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

, 2006
The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal ...
Fadi C., Ghina M., Makhoul G., Fadi B., Joseph R., Hala T., May K., Yunis, Khalid, Rashkidi, Joseph, Chamseddine, Fadi, Kassar, May, Khalid Y., Tamim, Hala, Mumtaz, Ghina, Bitar, Fadi, Makhoul, Ghaith   +15 more
core   +1 more source

A revised classification system of the marronoid clade of spiders (Araneae), based on dense sampling phylogenomics and comparative morphology

Cladistics, EarlyView.
Abstract The marronoid clade is a globally distributed, ecologically diverse group of spiders. It is an important faunal component in both natural and synanthropic environments, and even found in aquatic and extreme habitats such as desert salt flats. The systematics of the marronoid clade has been notoriously unstable due to the widespread character ...
Jonas O. Wolff, Michael B. J. Kelly, Franklyn Cala‐Riquelme, Jacob A. Gorneau, Katherine O. Montana, Helen M. Smith, Phil J. Sirvid, Cor J. Vink, Lauren A. Esposito, Martín J. Ramírez, Charles E. Griswold   +10 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, میرزا رحیمی, مهرداد, عیسی زاده فر, خاطره, علی پور, رقیه, سعادتی, حکیمه   +5 more
core  

Cisterna Chyli Dilation Is a Risk Factor for Liver Nodules and Hepatocellular Carcinoma in Fontan‐Associated Liver Disease: Pathophysiological Role of Lymphatic Dysfunction

Hepatology Research, EarlyView.
ABSTRACT Aim In Fontan‐associated liver disease (FALD), chronic congestion often confounds conventional fibrosis markers, complicating surveillance for hepatocellular carcinoma (HCC). Although lymphatic dysfunction is fundamental to Fontan physiology, its contribution to hepatocarcinogenesis remains unclear.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Yuuki Azuma, Tomonobu Hioki, Yusuke Morita, Keisuke Sakaguchi, Nobuhiro Fujita, Takamori Kakino, Ayako Ishikita, Kenichiro Yamamura, Ichiro Sakamoto, Kousei Ishigami, Kohtaro Abe, Yoshihiro Ogawa   +14 more
wiley   +1 more source

Challenging right ventricular pacing in a patient with transitional atrioventricular septal defect

Romanian Journal of Cardiology
A 56-year-old woman, known in her past medical history with uncorrected atrioventricular septal defect, secondary pulmonary hypertension, and permanent atrial fibrillation, with repeated hospitalizations for congestive heart failure over the years ...
Stoiculescu Flavia-Mihaela, Hădăreanu Diana-Ruxandra, Ungureanu Adrian, Moise Cristiana Gianina, Florescu Cristina, Donoiu Ionuţ   +5 more
doaj   +1 more source

Atrial Septal Defect as Unexpected Cause of Pulmonary Artery Hypertension

, 2018
Methamphetamine abuse is an increasingly prevalent cause of pulmonary artery hypertension in the United States. Conversely, an atrial septal defect rarely presents late as pulmonary artery hypertension. We present the case of a 44-year-old
Jack Boyd, Rushi V. Parikh, David P. Lee, Ronald Witteles   +3 more
core   +1 more source

Safety and Utility of Smartphone‐Based Heart Monitors in Pediatric Patients With Cardiovascular Implantable Electronic Devices

Journal of Cardiovascular Electrophysiology, EarlyView.
Smartphone heart monitors in pediatric CIEDs: A pilot study. Smartphone heart monitors did not induce EMI in children with CIEDs, enabling reliable heart rate measurement and accurate identification of ventricular non‐captures. ABSTRACT Background Portable heart monitors enable on‐demand electrocardiogram (ECG) recordings and enhance symptom‐rhythm ...
Chun‐Lok Ho, Sit‐Yee Kwok, Sabrina S. L. Tsao, Yiu‐Fai Cheung   +3 more
wiley   +1 more source