Results 91 to 100 of about 350,391 (383)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka, Del Sol, Antonio, Gifford, Casey A, Huang, Yu, Okawa, Satoshi, Ranade, Sanjeev S, Ravichandran, Srikanth, Salunga, Hazel T, Schricker, Amelia, Srivastava, Deepak   +9 more
core  

Comparison of Two Measurement Devices for Pulse Wave Velocity in Children: Which Tool Is Useful to Detect Vascular Alterations Caused by Overweight?

Frontiers in Pediatrics, 2019
Vascular alterations may lead to manifest cardiovascular disease in future life. There is a tremendous time delay between the onset and obvious clinical appearance of vascular alterations.
Julia Elmenhorst, Heidi Weberruss, Martina Mayr, Karin Pfister, Renate Oberhoffer, Renate Oberhoffer   +5 more
doaj   +1 more source

A Path to Implement Precision Child Health Cardiovascular Medicine. [PDF]

, 2017
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is
Brian Reemtsen, J. Paul Finn, Juan Alejos, Marlin Touma, Marlin Touma, Nancy Halnon, Stanley F. Nelson, Yibin Wang, Yibin Wang   +8 more
core   +2 more sources

Maternal folic acid supplementation and dietary folate intake and congenital heart defects

PLoS ONE, 2017
Background It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive.
B. Mao, J. Qiu, N. Zhao, Y. Shao, W. Dai, Xiaochun He, H. Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, W. Qiu, Qing Liu, Yawei Zhang   +16 more
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Sex differences in publication volume and quality in congenital heart disease: are women disadvantaged?

Open Heart, 2019
Background Women are underrepresented in leading medical positions and academia. The gender-gap in authorship of congenital heart disease (CHD) publications remains unknown.
Michael A Gatzoulis, Gerhard Paul Diller, Aleksander Kempny, Sophie van Doren, Margarita Brida, Sonya V Babu-Narayan, Ulrike M M Bauer, Helmut Baumgartner   +7 more
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source