Published in Cardiol Young on May 01, 2002
Transient postnatal heart failure caused by noncompaction of the right ventricular myocardium. Pediatr Cardiol (2005) 0.86
Biventricular noncompaction: A rare cause of fetal distress and tricuspid regurgitation. Images Paediatr Cardiol (2009) 0.83
Fetal diagnosis of left-ventricular noncompaction cardiomyopathy in identical twins with discordant congenital heart disease. Pediatr Cardiol (2012) 0.80
Features and outcomes in utero and after birth of fetuses with myocardial disease. Int J Pediatr (2010) 0.79
Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome. Pediatr Cardiol (2015) 0.78
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics (2007) 1.75
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A (2009) 1.44
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet (2007) 1.28
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype. Acta Neuropathol (2007) 1.10
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet (2009) 0.99
Postnatal clinical and imaging follow-up of infants with prenatal isolated mild ventriculomegaly: a series of 101 cases. Pediatr Radiol (2007) 0.98
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics (2009) 0.94
A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity. Am J Med Genet A (2008) 0.94
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol (2011) 0.94
Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant. J Neurosurg Pediatr (2012) 0.94
Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Pediatr Res (2002) 0.91
In vitro and in vivo analysis of endothelial progenitor cells from cryopreserved umbilical cord blood: are we ready for clinical application? Cell Transplant (2010) 0.91
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics (2011) 0.88
Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness. Prenat Diagn (2006) 0.86
Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. Fetal Diagn Ther (2006) 0.86
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Mol Genet Metab (2006) 0.86
Instrumental delivery: clinical practice guidelines from the French College of Gynaecologists and Obstetricians. Eur J Obstet Gynecol Reprod Biol (2011) 0.86
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A (2007) 0.84
Iodine deficiency in northern Paris area: impact on fetal thyroid mensuration. PLoS One (2011) 0.84
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature. Am J Med Genet A (2014) 0.81
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. Am J Med Genet A (2009) 0.81
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Am J Med Genet A (2014) 0.80
Synemin expression in developing normal and pathological human retina and lens. Exp Neurol (2003) 0.80
Inverted duplication with terminal deletion of 5p and no cat-like cry. Am J Med Genet A (2008) 0.80
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Am J Med Genet A (2014) 0.79
Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings. Prenat Diagn (2006) 0.79
Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys. Prenat Diagn (2005) 0.78
Development of the human motor-related thalamic nuclei during the first half of gestation, with special emphasis on GABAergic circuits. J Comp Neurol (2004) 0.78
Uniparental disomy: can SNP array data be used for diagnosis? Genet Med (2012) 0.77
A model of the structural and functional development of the normal human fetal left ventricle based on a global growth law. Comput Methods Biomech Biomed Engin (2002) 0.76
Etiology and outcome of fetal echogenic bowel. Ten years of experience. Fetal Diagn Ther (2003) 0.76
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). Am J Med Genet A (2012) 0.76
Duplication of AKT3 is associated with macrocephaly and speech delay. Am J Med Genet A (2014) 0.76
Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature. Am J Perinatol (2007) 0.75
Prenatal diagnosis of horseshoe lung: contribution of MRI. Pediatr Radiol (2005) 0.75
Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. Am J Med Genet A (2009) 0.75
Inherited 18q23 duplication in a fetus with multiple congenital anomalies. Eur J Med Genet (2008) 0.75
Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. Eur J Med Genet (2013) 0.75
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. Am J Med Genet A (2012) 0.75