Search Results - "Congenital heart defect"

Does universal insurance influence disparities in high-quality hospital use for inpatient pediatric congenital heart defect care within the first year of diagnosis? by Amber El-Amin, Tracey Koehlmoos, Dahai Yue, Jie Chen, Peyman Benharash, Luisa Franzini

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Physical Self-Concept and Physical Activity in Children with Congenital Heart Defects-Can We Point Out Differences to Healthy Children to Promote Physical Activity? by Jannos Siaplaouras, Annika Jahn, Paul Helm, Kerstin Hanssen, Ulrike Bauer, Christian Apitz, Claudia Niessner

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Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association by Chih-Ping Chen, Jin-Chung Shih, Ming-Chao Huang, Yu-Peng Liu, Jun-Wei Su, Schu-Rern Chern, Wayseen Wang

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Pharmacokinetics of a microdosed cocktail of three direct oral anticoagulants in children with congenital heart defects: study protocol for a single-centre clinical trial (DOAC-Child) by Matthias Gorenflo, Victoria C. Ziesenitz, Gerd Mikus, Simon A Hermann, Kristine Chobanyan-Jürgens

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Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects by Chih-Ping Chen, Jian-Pei Huang, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Wen-Lin Chen, Li-Feng Chen, Wayseen Wang

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Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects by Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction by Yi-Hui Lin, Chih-Ping Chen, Tze-Chien Chen, Chun-Sen Hsu, Szu-Yuan Chou, Shu-Chin Chien

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Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects by Chih-Ping Chen

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Emotional and cognitive experiences during the time of diagnosis and decision-making following a prenatal diagnosis: a qualitative study of males presented with congenital heart defect in the fetus carried by their pregnant partner by Tommy Carlsson, Elisabet Mattsson

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"Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case-control study encompassing meta-analysis and trial sequential analysis" by Jyotdeep Kour Raina, Rakesh Kumar Panjaliya, Vikas Dogra, Sushil Sharma, Anupriya, Parvinder Kumar

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Prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS) Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil by Luciana T. Vilas Boas, Elaine P. Albernaz, Rafaéla Gonçalves Costa

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Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus by Chih-Ping Chen, Yu-Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu-Jen Tsai, Yu-Ting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang

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A comprehensive study of congenital unilateral absence of branch pulmonary artery associated with other congenital heart defects and ipsilateral non-unifocalizable major aorto-pulmonary collateral arteries: A single-center retrospective study by H Ravi Ramamurthy, Varsha Walavalkar, Satheesh Siddaiah, Sunita Maheshwari

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Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study by Sinclair, Marlene, McCullough, Julie EM, Elliott, David, Latos-Bielenska, Anna, Braz, Paula, Cavero-Carbonell, Clara, Jamry-Dziurla, Anna, João Santos, Ana, Páramo-Rodríguez, Lucía

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Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

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De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review by Cristina Gug, Dorina Stoicanescu, Ioana Mozos, Ioana Mozos, Laura Nussbaum, Mariana Cevei, Danae Stambouli, Anca Gabriela Pavel, Gabriela Doros

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Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

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Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly by Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang

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Características de los cuidadores de niños con cardiopatías congénitas complejas y su calidad de vida Características dos cuidadores de crianças com cardiopatias congênitas complexas e sua qualidade de vida Characteristics of care takers for children with complex congenital heart defects and the quality of life of the former by ELIZABETH ROMERO MASSA, AMPARO MONTALVO PRIETO, INNA FLÓREZ TORRES

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result by Chih-Ping Chen, Shin-Wen Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Li-Feng Chen, Wayseen Wang

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