Results 71 to 80 of about 3,525 (192)

Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder

American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.
Abstract We report a 17‐year‐old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder.
Jorge L. Rodriguez‐Gil, Peter L. Nagy, Uta Francke   +2 more
wiley   +1 more source

Disorders of puberty and neurodevelopment: A shared etiology?

Annals of the New York Academy of Sciences, Volume 1541, Issue 1, Page 83-99, November 2024.
Disorders of puberty result primarily from dysregulation of gonadotropin‐releasing hormone secretion in the hypothalamus. Studies have uncovered associations between pubertal timing and neurodevelopment. This review discusses the overlap between the brain circuitry controlling puberty and behavior, highlights neurodevelopmental conditions with ...
Jordan E. Read, Alexandru Vasile‐Tudorache, Angel Newsome, María José Lorente, Carmen Agustín‐Pavón, Sasha R. Howard   +5 more
wiley   +1 more source

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong   +12 more
wiley   +1 more source

Congenital heart disease: types, pathophysiology, diagnosis, and treatment options

MedComm, Volume 5, Issue 7, July 2024.
In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, corrected transposition of the great ...
Xiao Meng, Ming Song, Kai Zhang, Weida Lu, Yunyi Li, Cheng Zhang, Yun Zhang   +6 more
wiley   +1 more source

Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology

Journal of Cellular and Molecular Medicine, Volume 28, Issue 12, June 2024.
Abstract Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both genetic and environmental factors significantly contribute to the pathogenesis of CVDs, recent advancements in genetic technology have further emphasized the significance of genetic factors in CVDs.
Niloofar Naderi, MohammadHossein MozafaryBazargany, Majid Maleki, Samira Kalayinia   +3 more
wiley   +1 more source

Myocardial proteome changes in aortic stenosis rats subjected to long‐term aerobic exercise

Journal of Cellular Physiology, Volume 239, Issue 4, April 2024.
Abstract The effects of exercise training (ET) on the heart of aortic stenosis (AS) rats are controversial and the mechanisms involved in alterations induced by ET have been poorly clarified. In this study, we analyzed the myocardial proteome to identify proteins modulated by moderate‐intensity aerobic ET in rats with chronic supravalvular AS.
Gustavo Augusto Ferreira Mota, Sérgio Luiz Borges de Souza, Danielle Fernandes Vileigas, Vitor Loureiro da Silva, Paula Grippa Sant'Ana, Licia Carla da Silva Costa, Carlos Roberto Padovani, Silméia Garcia Zanatti Bazan, Marília Afonso Rabelo Buzalaf, Lucilene Delazari dos Santos, Marina Politi Okoshi, Mariana Gatto, Antonio Carlos Cicogna   +12 more
wiley   +1 more source

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

Case Reports in Pediatrics, 2017
Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation.
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra   +2 more
doaj   +1 more source

Oral manifestations of nine individuals with Williams syndrome. A case series

Special Care in Dentistry, Volume 44, Issue 2, Page 438-449, March/April 2024.
Abstract Aims Williams syndrome (WS) is a congenital developmental disorder characterized, mainly, by distinctive facial features, cardiovascular anomalies, growth delay and a typical neurobehavioral profile. The oral manifestations have not been sufficiently described and, therefore, the aim of the current study was to present the clinical ...
Konstantina Vavetsi, Olga Panagopoulou, Panagiotis Koromantzos, Ηelen Fryssira, Spyridon A. Bobetsis, Dimitris Emmanouil, Yiorgos A. Bobetsis   +6 more
wiley   +1 more source

Supravalvular Aortic Stenosis Without Williams Syndrome

The Thoracic and Cardiovascular Surgeon, 1996
In this article, the case of a 30-years-old female patient with supravalvular aortic stenosis is reported. Her clinical picture was otherwise completely different from Williams syndrome. Since supravalvular aortic stenosis is rarely seen, its forms are discussed and it is concluded that supravalvular aortic stenosis can be present without Williams ...
Ozergin, U, Sunam, GS, Yeniterzi, M, Yuksek, T, Solak, T, Solak, H   +5 more
openaire   +3 more sources

Síndrome de Shone incompleto. A propósito de un caso diagnosticado en la adultez Incomplete Shone's syndrome. Apropos of a case diagnosed in adulthood

Revista Cubana de Medicina, 2012
El síndrome de Shone constituye una rara entidad cardíaca congénita que consiste en la presencia de lesiones estructurales obliterantes de hemicardio izquierdo que incluyen: anillo supravalvular, válvula mitral en paracaídas, estenosis sub-aórtica y ...
Ángela Castro Arca, Zoinez Sotto García, Ricardo Amador García Hernández, Michel Ley Rodríguez   +3 more
doaj