Results 231 to 240 of about 498,738 (296)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

A case of pregnancy complicated by caroli disease. [PDF]

BMC Pregnancy Childbirth
Wang W, Qiang X, Cai X, Bai Q.
europepmc   +1 more source

Failure in Congenital Heart Disease with Left to Right Shunt

, 1950
R Price
openalex   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Utilization of Exception Requests After Implementation of the National Heart Review Board for Pediatrics. [PDF]

Pediatr Transplant
Harris RE, Bearl DW, Wright LK.
europepmc   +1 more source

Abnormalities accompanying some congenital eye diseases.

, 1951
Hisayoshi Yoshida
openalex   +2 more sources

From Fear to Vaccination: Changing Needs of Congenital Heart Defect Patients and Relatives over the Course of the COVID-19 Pandemic. [PDF]

J Clin Med
Helm PC, Nasri SO, Schütte E, Ehmann AL, Semmler J, Berger F, Schmitt K, Tremblay C, Remmele J, Orwat S, Diller GP, Pfitzer C.   +11 more
europepmc   +1 more source

Congenital and inherited diseases

Veterinary Record, 1979
openaire   +2 more sources

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Case report of transcatheter flow restriction in isolated non-redundant major aorto-pulmonary collateral arteries. [PDF]

Eur Heart J Case Rep
Mehra N, Najm H, Tretter J, Szugye N, Ghobrial J.   +4 more
europepmc   +1 more source