Results 221 to 230 of about 65,471 (356)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Dual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae. [PDF]

Interdiscip Cardiovasc Thorac Surg
Yoneyama F, Imamura M.
europepmc   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, EarlyView.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Heart failure caused by Opitz syndrome: a case report and literature review. [PDF]

BMC Cardiovasc Disord
Wang Y, Wu X, Wang K.
europepmc   +1 more source

CONDUCTION SYSTEM IN HUMAN HEARTS WITH INTERVENTRICULAR SEPTAL DEFECTS

Journal of Thoracic Surgery, 1958
R C, TRUEX, J K, BISHOF
openaire   +2 more sources

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Standardized mortality ratio in adults with congenital heart disease. [PDF]

Eur Heart J Open
Hahlin E, Christersson C, Sörensson P, Trzebiatowska-Krzynska A, Mandalenakis Z, Hlebowicz J, Sandberg C, Johansson B, Rinnström D.   +8 more
europepmc   +1 more source

Successful Surgical Closure of a Coronary Sinus Atrial Septal Defect Using a Heart-Shaped Patch.

, 2001
水野 朝敏, 堀越 茂樹, 江本 秀斗, ヨシマサ ウノ, 博之 鈴木   +4 more
openalex   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source