Results 101 to 110 of about 36,611 (218)

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco? [PDF]

Cureus
Babakhouya A, Yechouti C, Salhi C, Elouali A, Rkain M.   +4 more
europepmc   +1 more source

Residual Postmyocardial Infarction Ventricular Septal Defect Repair through Right Atrium with Right Thoracotomy on Beating Heart Technique

, 2008
Ferit Çiçekçioğlu, Ufuk Tütün, Ali İhsan Parlar, Kerem Yay, Yeşım Güray, Salih Fehmi Katırcıoğlu   +5 more
openalex   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Super‐Enhancer Target Gene CBP/p300‐Interacting Transactivator With Glu/Asp‐Rich C‐Terminal Domain, 2 Cooperates With Transcription Factor Forkhead Box J3 to Inhibit Pulmonary Vascular Remodeling

Cell Proliferation, EarlyView.
During hypoxia, the transcriptional effect of super‐enhancer in promoting CBP/p300‐interacting transactivator with Glu/Asp‐rich C‐terminal domain, 2 reduced, eventually leading to the thickening of the smooth muscle layer of the pulmonary artery.
Songyue Li, Jingya Zhang, Xu Wang, Xinru Wang, Yuyu Song, Xinyue Song, Xiuli Wang, Weiwei Cao, Chong Zhao, Jing Qi, Xiaodong Zheng, Yan Xing   +11 more
wiley   +1 more source

Clinical and Surgical Perspectives on Isolated Thoracic Ectopia Cordis: A Rare Case Report. [PDF]

Case Rep Pediatr
Bukhari SMR, Mehdi H, Zaman M, Venkatesh N, Abbas A, Fatima I, Farooq A, Raza H, Raza M.   +8 more
europepmc   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Factors Influencing Prolonged Hospital Stay in Surgically Treated Children and Adolescents with Left-to-Right Shunt Congenital Heart Disease: Evidence From a Hospital in Southern China. [PDF]

Ther Clin Risk Manag
Huang L, Zhang Y, Jiang S.
europepmc   +1 more source

Percutaneous Ultrasound-Guided Closure of Perimembranous Ventricular Septal Defects in Children Using Bioabsorbable Occluders-Feasibility and 1-Year Follow-Up. [PDF]

Catheter Cardiovasc Interv
ABSTRACT Background To reduce complications associated with metal occluders, bioabsorbable occluders have been implanted for perimembranous ventricular septal defects (VSDs) via transthoracic approach. This study investigates the feasibility of echocardiography‐guided percutaneous closure of perimembranous VSDs in children using bioabsorbable occluders,
Huang LL, Chen M, Zeng C, Jiang CL, Ling GX, Su CX, Zheng BS, Wu J.   +7 more
europepmc   +2 more sources

Surgery for transposition of the great arteries, ventricular septal defect and left ventricular outflow tract obstruction: European Congenital Heart Surgeons Association multicentre study

, 2010
Mark G. Hazekamp, Alejandro Adsuar Gómez, David R. Koolbergen, Viktor Hraška, D Métras, Ikka Pellervo Mattila, Willem Daenen, Håkan Berggren, Jean-Etienne Rubay, Giovanni Stellin   +9 more
openalex   +1 more source