Results 141 to 150 of about 63,827 (265)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1083-1086, May 2026.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

ATRIAL SEPTAL DEFECT [PDF]

Heart, 1956
openaire   +2 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller, Zeyu Miao, Renata H. Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C. de Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A. Canfield, the National Birth Defects Prevention Study   +10 more
wiley   +1 more source

Early Detection of Acute and Early‐Onset Cancer Therapy‐Related Cardiac Dysfunction in Children With Cancer Using a Multiparametric Approach: Methodological Aspects of the EARLY Study

Cancer Medicine, Volume 15, Issue 5, May 2026.
ABSTRACT Background Cancer therapy‐related cardiac dysfunction (CTRCD) is among the most important adverse effects of treatment of childhood cancer. In the EARLY study (Early detection of acute and early‐onset cARdiovascuLar toxicity in children with cancer using a multiparametric approach), cardiac function in children treated for cancer was monitored
Theodorus W. Kouwenberg, Heynric B. Grotenhuis, Leontien C. M. Kremer, Esmée C. de Baat, Auke Beishuizen, Max M. van Noesel, Livia Kapusta, Rutger A. J. Nievelstein, Birgitta K. Velthuis, Martijn G. Slieker, Tim Leiner, Bianca A. W. Hoeben, Annelies M. C. Mavinkurve‐Groothuis, Elizabeth A. M. Feijen   +13 more
wiley   +1 more source

Cryptogenic Perirolandic Brain Abscess in an Otherwise Healthy Young Man

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A previously healthy 19‐year‐old male presented with 1 day of transient right‐sided weakness, numbness, and gait disequilibrium after recent self‐limited sinonasal symptoms and minor nasal trauma with epistaxis. He was afebrile but with focal deficits, leukocytosis, and elevated C‐reactive protein.
Mazen Taman, Carl Porto, Jean‐Luc Lewis, Dimitrios Farmakiotis, Athar N. Malik   +4 more
wiley   +1 more source

Stroke From Paradoxical Embolism in a Young Patient With Sickle‐Cell Disease and High Fetal Hemoglobin: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
Acute infarcts and microvascular ischemic changes in the brain of a young patient with Sickle‐Cell Disease despite High Fetal Hemoglobin. ABSTRACT Sickle‐cell disease (SCD) is characterized by abnormal hemoglobin (Hb) polymerization, leading to erythrocyte sickling and microvascular obstruction.
Yi Hui Luo, Navid Zuberi, Angelo Rizzolo, Margaret Warner, Stephane Isnard, Jean‐Pierre Routy   +5 more
wiley   +1 more source