Disease: Polysyndactyly cardiac malformation
- <em>Drosophila</em> Homolog of the Human Carpenter Syndrome Linked Gene, <em>MEGF8</em>, Is Required for Synapse Development and Function
- 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
- A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
- A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder
- A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
- A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
- A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations
- A parapagus dicephalus tripus tribrachius conjoined twin with a unique morphological pattern: a case report
- A rare coexistence: Poland's syndrome and cardiac angiosarcoma
- A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl
- Apert syndrome: Diagnostic and management problems in a resource-limited country
- Assessing the effects of oxytocin in changes of core body temperature during LPS-induced endotoxemia: A novel approach using Extended Poincaré Plot Analysis
- Associations Between Heart Rate Variability-Derived Indexes and Training Load: Repeated Measures Correlation Approach Contribution
- Autonomic and cardiorespiratory responses to the active tilt test in individuals with Parkinson disease: cross-sectional study
- Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Birth defects data from hospital-based birth defect surveillance in Guilin, China, 2018-2020
- Birth Defects Data From Population-Based Birth Defects Surveillance System in a District of Southern Jiangsu, China, 2014-2018
- Cardiac dextroposition associated to Poland syndrome
- Cardiac-only Timothy Syndrome (COTS): Peripartum Cardiomyopathy and Long QT Syndrome
- CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms
- Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome
- Ciliopathy: Bardet-Biedl Syndrome
- Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series
- Clinical and genetic approach in the characterization of newborns with anorectal malformation
- Clinical and genetic findings of two cases with Apert syndrome
- Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly
- Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder
- Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
- Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect
- Dynamic Electrocardiographic Abnormalities Captured in Timothy Syndrome
- Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study
- Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study
- Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers
- Effects of using different algorithms and fiducial points for the detection of interbeat intervals, and different sampling rates on the assessment of pulse rate variability from photoplethysmography
- Elevated basal transcription can underlie timothy channel association with autism related disorders
- Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014-2018
- Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors
- Expanding the phenotype of CACNA1C mutation disorders
- Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases
- Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
- Fraser syndrome: review of the literature illustrated by a historical adult case
- From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
- Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation
- Grange syndrome due to homozygous YY1AP1 missense rare variants
- Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
- Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death
- Heart rate variability kinetics during different intensity domains of cycling exercise in healthy subjects
- Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1
- High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8
- Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
- Hydration Influence on the Autonomic Recovery of the Coronary Diseases Patient: Geometric Indices Analysis
- Hyperinsulinemic Hypoglycemia Associated with a Ca<sub>V</sub>1.2 Variant with Mixed Gain- and Loss-of-Function Effects
- Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing
- Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome
- Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride
- Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers
- Impaired vagal adaptation to an exercise task in women with gestational diabetes mellitus versus women with uncomplicated pregnancies
- Indian child with novel variant in OFD1 gene
- International Cohort of Neonatal Timothy Syndrome
- Is the Combination of Aerobic Exercise with Mat Pilates Better than Mat Pilates Training Alone on Autonomic Modulation Related to Functional Outcomes in Hypertensive Women? Secondary Analysis of a Randomized Controlled Trial
- KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
- Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review
- Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine
- Management of Paronychia in Patients With Apert Syndrome
- Maternal exposure to ambient air pollution and risk of congenital heart defects in Suzhou, China
- Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature
- Novel Gain-of-Function Variant in <em>CACNA1C</em> Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy
- Oculofaciocardiodental syndrome caused by a novel BCOR variant
- OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR
- Phenotypic Characterization of Timothy Syndrome Caused by the <em>CACNA1C</em> p.Gly402Ser Variant
- Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Phenotypic spectrum of <em>FGF10</em>-related disorders: a systematic review
- Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype
- Post-exercise heart rate recovery and its speed are associated with resting-reactivity cardiovagal modulation in healthy women
- Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging
- Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype
- Prenatal imaging of a fetus with the rare combination of Pfeiffer syndrome and hypoplastic left heart syndrome
- Primary Right Atrial Cardiac Angiosarcoma in Patient With Poland Syndrome: Case Report and Review of the Literature
- Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes
- Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report
- Relationship between the number of comorbidities, quality of life, and cardiac autonomic modulation in patients with coronary disease: a cross-sectional study
- Reliability of the heart rate variability threshold during treadmill exercise
- Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study
- Saethre-Chotzen syndrome: Case report and literature review
- Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation)
- Slide Tracheoplasty for Tracheal Cartilaginous Sleeve in a Patient With Apert Syndrome
- Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern
- Study on the nonfatigue and fatigue states of orchard workers based on electrocardiogram signal analysis
- TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
- The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach
- The effect of breathing hypoxic gas (15% FIO<sub>2</sub> ) on physiological and behavioral outcomes during simulated driving in healthy subjects
- Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling
- Trends in congenital anomalies in Europe from 1980 to 2012
- Ultrasound-based radiomics for the evaluation of fetal rat lung maturity: A noninvasive assessment method (Ultrasound-based radiomics in fetal rat lung)
- Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C
- Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2
- Voltage-Gated Calcium Channels in Nonexcitable Tissues
- Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease