Results 91 to 100 of about 355,187 (399)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Le Cœur en Sabot: shape associations with adverse events in repaired tetralogy of Fallot

Journal of Cardiovascular Magnetic Resonance, 2022
Background Maladaptive remodelling mechanisms occur in patients with repaired tetralogy of Fallot (rToF) resulting in a cycle of metabolic and structural changes.
Anna Mîra, Pablo Lamata, Kuberan Pushparajah, Georgina Abraham, Charlène A. Mauger, Andrew D. McCulloch, Jeffrey H. Omens, Malenka M. Bissell, Zach Blair, Tyler Huffaker, Animesh Tandon, Sandy Engelhardt, Sven Koehler, Thomas Pickardt, Philipp Beerbaum, Samir Sarikouch, Heiner Latus, Gerald Greil, Alistair A. Young, Tarique Hussain   +19 more
doaj   +1 more source

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]

, 2011
Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core   +1 more source

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

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Palliative procedures for congenital heart defects

Archives of Cardiovascular Diseases, 2009
Although total repair of some congenital heart defects is possible in young children, palliative procedures still play an important role in relieving patients' symptoms, particularly in emergent settings, when total correction or surgical repair is not available.
Hua Jing, Shi-Min Yuan
openaire   +3 more sources

Risk of Congenital Heart Defects after Ambient Heat Exposure Early in Pregnancy

Environmental Health Perspectives, 2016
Background: Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. Objectives: We studied the relationship between outdoor heat during the first trimester of pregnancy
N. Auger, W. Fraser, R. Sauve, M. Bilodeau-Bertrand, T. Kosatsky   +4 more
semanticscholar   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source