Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

Congenital diaphragmatic hernia after exposure to a triple retinoic acid antagonist during pregnancy

(2017) Daria Cipollone et al.   Journal of Cardiovascular Medicine

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

(2015) Zornitza Stark et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias

(2015) Allyson J Merrell et al.   NATURE GENETICS

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

(2015) Francesca Romana Grati et al.   PRENATAL DIAGNOSIS

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Genetic causes of congenital diaphragmatic hernia

(2014) Julia Wynn et al.   Seminars in Fetal & Neonatal Medicine

Outcomes of Congenital Diaphragmatic Hernia in the Modern Era of Management

(2013) Julia Wynn et al.   JOURNAL OF PEDIATRICS

Current concepts on the pathogenesis and etiology of congenital diaphragmatic hernia

(2013) John J. Greer   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

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

De novo copy number variants are associated with congenital diaphragmatic hernia

(2012) Lan Yu et al.   JOURNAL OF MEDICAL GENETICS

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Phenotypic variability of distal 22q11.2 copy number abnormalities

(2011) Tiong Yang Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

(2011) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

Epidemiology and outcome of congenital diaphragmatic hernia: a 9-year experience

(2010) Joanna C. E. Wright et al.   PAEDIATRIC AND PERINATAL EPIDEMIOLOGY

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

(2010) Kasemsri Srisupundit et al.   PRENATAL DIAGNOSIS

Changing Perspectives on the Perinatal Management of Isolated Congenital Diaphragmatic Hernia in Europe

(2009) Jan A. Deprest et al.   CLINICS IN PERINATOLOGY

Neurodevelopmental outcomes of congenital diaphragmatic hernia survivors followed in a multidisciplinary clinic at ages 1 and 3

(2008) Sandra Friedman et al.   JOURNAL OF PEDIATRIC SURGERY