Results 31 to 40 of about 53,437 (286)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Ventricular septal rupture after blunt chest trauma: a case report

Surgical Case Reports, 2022
Cardiac injury, including myocardial contusion and valvular damage, is a common complication of blunt chest trauma; however, traumatic ventricular septal rupture is a rare complication.
Masato Tochii, Hirotaka Watanuki, Kayo Sugiyama, Yasuhiro Futamura, Hiroshi Ishikawa, Katsuhiko Matsuyama   +5 more
doaj   +1 more source

Case report—CARMAT: the first experience with the Aeson bioprosthetic total artificial heart as a bridge to transplantation in a case of post-infarction ventricular septal rupture

Frontiers in Cardiovascular Medicine, 2023
BackgroundPost-infarction ventricular septal defects remain one of the most feared complications after myocardial infarction with high mortality rates. In special cases, surgical or interventional treatment strategies are technically not feasible and do ...
Katharina Huenges, Bernd Panholzer, Jochen Cremer, Assad Haneya   +3 more
doaj   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]

, 2016
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F, Choi, Jongkyu, Comai, Lucio, Dansithong, Warunee, Dixon, Donald M, Jordan, Maria C, Lee, Han Shin, Reddy, Sita, Roos, Kenneth P, Trac, Brandon   +9 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome

Türk Kardiyoloji Derneği Arşivi, 2015
Scimitar syndrome is a rare disease associated with a right lung sequestration vascularised by arteries arising from the abdominal aorta and abnormal venous drainage into the inferior vena cava. The infantile form is generally presented with severe heart
Eyup Aslan, Ibrahim Cansaran Tanidir, Murat Saygi, Sertac Hanedan Onan, Alper Guzeltas   +4 more
doaj   +1 more source

O-linked β-N-acetylglucosamine transferase plays an essential role in heart development through regulating angiopoietin-1.

PLoS Genetics, 2020
O-linked N-acetylglucosamine (GlcNAc) transferase (OGT) is the only enzyme catalyzing O-GlcNAcylation. Although it has been shown that OGT plays an essential role in maintaining postnatal heart function, its role in heart development remains unknown ...
Yongxin Mu, Houzhi Yu, Tongbin Wu, Jianlin Zhang, Sylvia M Evans, Ju Chen   +5 more
doaj   +1 more source