Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers
出版年份 2018 全文链接
标题
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2018-04-17
DOI
10.1002/ajmg.a.38662
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Association of airway abnormalities with 22q11.2 deletion syndrome
- (2017) Rosalba Sacca et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- The Clinical Utility of Flexion-Extension Cervical Spine MRI in 22q11.2 Deletion Syndrome
- (2017) Samuel E. Kolman et al. JOURNAL OF PEDIATRIC ORTHOPAEDICS
- Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results
- (2017) M. Bunnell et al. PRENATAL DIAGNOSIS
- Congenital diaphragmatic hernia in 22q11.2 deletion syndrome
- (2016) Marta Unolt et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Brain in Congenital Heart Disease Across the Lifespan
- (2016) Ariane Marelli et al. CIRCULATION
- Obesity in adults with 22q11.2 deletion syndrome
- (2016) Sarah L. Voll et al. GENETICS IN MEDICINE
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
- (2016) Elisabeth E. Mlynarski et al. HUMAN GENETICS
- Interrupted aortic arch: Measure twice, cut once
- (2016) Carl L. Backer JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Selective management strategy of interrupted aortic arch mitigates left ventricular outflow tract obstruction risk
- (2016) Bahaaldin Alsoufi et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome
- (2016) S. J. Gross et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
- (2015) Tingwei Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
- (2015) Elisabeth E. Mlynarski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
- (2015) Silvia E. Racedo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome
- (2015) Andrea L. Shugar et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
- (2015) Ronald J. Wapner et al. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
- 22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of FallotCLINICAL PERSPECTIVE
- (2015) Laura Mercer-Rosa et al. Circulation-Cardiovascular Genetics
- Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
- (2015) Carrie Stransky et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- 22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
- (2015) Rachel D. Burnside CYTOGENETIC AND GENOME RESEARCH
- A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
- (2015) Céline Poirsier et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Practical guidelines for managing adults with 22q11.2 deletion syndrome
- (2015) Wai Lun Alan Fung et al. GENETICS IN MEDICINE
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome
- (2015) Chrystal Chan et al. Journal of Genetic Counseling
- Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction
- (2015) Carrie Stransky et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
- (2015) Jingjing Zhang et al. Molecular Cytogenetics
- 22q11.2 Deletion Status and Disease Burden in Children and Adolescents With Tetralogy of FallotCLINICAL PERSPECTIVE
- (2015) Laura Mercer-Rosa et al. Circulation-Cardiovascular Genetics
- 22q11.2 deletion syndrome
- (2015) Donna M. McDonald-McGinn et al. Nature Reviews Disease Primers
- Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families
- (2014) Shabnam Peyvandi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Fetal phenotype associated with the 22q11 deletion
- (2014) Anne-Claire Noël et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Central 22q11.2 deletions
- (2014) Patrick Rump et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome
- (2014) Evelyn Ning Man Cheung et al. CLINICAL ENDOCRINOLOGY
- Presenting symptoms in adults with the 22q11 deletion syndrome
- (2014) Annick Vogels et al. European Journal of Medical Genetics
- 22q11.2 Deletion syndrome and obstructive sleep apnea
- (2014) William P. Kennedy et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Perioperative Management of Patients With DiGeorge Syndrome Undergoing Cardiac Surgery
- (2014) Tze Yeng Yeoh et al. JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
- 22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch
- (2014) Michael L. O’Byrne et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome
- (2014) Chantal Sellier et al. PLoS One
- A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
- (2014) J. Besseau-Ayasse et al. PRENATAL DIAGNOSIS
- Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
- (2014) Gabriela M Repetto et al. BMJ Open
- Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome
- (2013) James J. Yi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot
- (2013) Anitha S. John et al. CARDIOLOGY IN THE YOUNG
- Cervical Spine Abnormalities in 22q11.2 Deletion Syndrome
- (2013) Moska Hamidi et al. CLEFT PALATE-CRANIOFACIAL JOURNAL
- 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
- (2013) Laura Mercer-Rosa et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Crossed Pulmonary Arteries: A Report on 20 Cases With an Emphasis on the Clinical Features and the Genetic and Cardiac Abnormalities
- (2013) Kadir Babaoğlu et al. PEDIATRIC CARDIOLOGY
- 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases
- (2013) Shabnam Peyvandi et al. PEDIATRIC CARDIOLOGY
- Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome
- (2013) Giuliana Giardino et al. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
- Pregnancy in Women with Heart Disease
- (2013) Jasmine Grewal et al. Heart Failure Clinics
- Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
- (2012) Bradley S. Marino et al. CIRCULATION
- 22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development
- (2012) T. M. Maynard et al. HUMAN MOLECULAR GENETICS
- Impact of 22q11.2 Deletion on the Postoperative Course of Children After Cardiac Surgery
- (2012) Rachel McDonald et al. PEDIATRIC CARDIOLOGY
- Transcriptional Control in Cardiac Progenitors: Tbx1 Interacts with the BAF Chromatin Remodeling Complex and Regulates Wnt5a
- (2012) Li Chen et al. PLoS Genetics
- Complex Congenital Heart Disease in Unaffected Relatives of Adults With 22q11.2 Deletion Syndrome
- (2011) Jodi-Ann M. Swaby et al. AMERICAN JOURNAL OF CARDIOLOGY
- Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
- (2011) Nicole Philip et al. BEHAVIOR GENETICS
- Immunological aspects of 22q11.2 deletion syndrome
- (2011) A. R. Gennery CELLULAR AND MOLECULAR LIFE SCIENCES
- Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
- (2011) Anne S. Bassett et al. JOURNAL OF PEDIATRICS
- Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
- (2010) Kazuo Momma AMERICAN JOURNAL OF CARDIOLOGY
- Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
- (2010) Florence Bretelle et al. European Journal of Medical Genetics
- Aortic root dilation in patients with 22q11.2 deletion syndrome
- (2009) Anitha S. John et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
- (2009) Angela E Lin et al. GENETICS IN MEDICINE
- Premature death in adults with 22q11.2 deletion syndrome
- (2009) A S Bassett et al. JOURNAL OF MEDICAL GENETICS
- Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects
- (2009) Guido Michielon et al. JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
- Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome
- (2008) Elizabeth Goldmuntz et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome
- (2008) Adriano Carotti et al. Developmental Disabilities Research Reviews
- Genetic counseling for the 22q11.2 deletion
- (2008) Donna M. McDonald-McGinn et al. Developmental Disabilities Research Reviews
- Genetic syndromes and congenital heart defects: how is surgical management affected?
- (2008) Roberto Formigari et al. EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
- Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery
- (2008) Lidia Ziolkowska et al. EUROPEAN JOURNAL OF PEDIATRICS
- Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
- (2008) J. Newbern et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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