Published in Am J Med Genet A on August 01, 2004
A case of de novo duplication of 15q24-q26.3. Korean J Pediatr (2011) 0.76
Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not? Mol Cytogenet (2015) 0.75
Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques. PLoS One (2016) 0.75
Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function. Endocr Connect (2017) 0.75
C-reactive protein induces tissue factor expression and promotes smooth muscle and endothelial cell proliferation. Cardiovasc Res (2005) 1.67
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Protein oligomerization modulates raft partitioning and apical sorting of GPI-anchored proteins. J Cell Biol (2004) 1.59
A dynamic podosome-like structure of epithelial cells. Exp Cell Res (2004) 1.25
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. BMC Genomics (2007) 1.24
The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription. J Biol Chem (2002) 1.22
AMP-activated protein kinase: a target for old drugs against diabetes and cancer. Biochem Pharmacol (2013) 1.17
In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1. BMC Dev Biol (2011) 1.10
PrP(C) association with lipid rafts in the early secretory pathway stabilizes its cellular conformation. Mol Biol Cell (2004) 1.07
Glucose regulates diacylglycerol intracellular levels and protein kinase C activity by modulating diacylglycerol kinase subcellular localization. J Biol Chem (2007) 0.98
PrPC is sorted to the basolateral membrane of epithelial cells independently of its association with rafts. Traffic (2002) 0.98
Omi/HtrA2 promotes cell death by binding and degrading the anti-apoptotic protein ped/pea-15. J Biol Chem (2004) 0.98
Physiology, pathology and relatedness of human tissues from gene expression meta-analysis. PLoS One (2008) 0.97
The microRNA-processing enzyme Dicer is essential for thyroid function. PLoS One (2011) 0.94
Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. J Ultrasound Med (2009) 0.91
Prep1 controls insulin glucoregulatory function in liver by transcriptional targeting of SHP1 tyrosine phosphatase. Diabetes (2010) 0.91
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A (2012) 0.90
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A (2013) 0.89
Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation. Liver Transpl (2007) 0.89
Intracellular route and mechanism of action of ERB-hRNase, a human anti-ErbB2 anticancer immunoagent. FEBS Lett (2007) 0.89
The transcriptional repressor DREAM is involved in thyroid gene expression. Exp Cell Res (2005) 0.89
Tissue factor binding of activated factor VII triggers smooth muscle cell proliferation via extracellular signal-regulated kinase activation. Circulation (2004) 0.88
Targeting of PED/PEA-15 molecular interaction with phospholipase D1 enhances insulin sensitivity in skeletal muscle cells. J Biol Chem (2008) 0.88
Changing spectrum and outcome of 705 fetal congenital heart disease cases: 12 years, experience in a third-level center. J Cardiovasc Med (Hagerstown) (2008) 0.88
Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis. PLoS One (2011) 0.87
Conditional inactivation of the E-cadherin gene in thyroid follicular cells affects gland development but does not impair junction formation. Endocrinology (2007) 0.87
Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies. J Mol Diagn (2010) 0.86
Etiology of non-immune hydrops fetalis: An update. Am J Med Genet A (2015) 0.85
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. Am J Med Genet A (2009) 0.85
CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas. Endocrinology (2011) 0.85
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. Clin Dysmorphol (2012) 0.84
Essential stations in the intracellular pathway of cytotoxic bovine seminal ribonuclease. Biochem J (2002) 0.84
Functional inactivation of the transcription factor Pax8 through oligomerization chain reaction. Mol Endocrinol (2006) 0.84
Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid (2013) 0.84
Let-7a down-regulation plays a role in thyroid neoplasias of follicular histotype affecting cell adhesion and migration through its ability to target the FXYD5 (Dysadherin) gene. J Clin Endocrinol Metab (2012) 0.84
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn (2012) 0.84
Pax8 protein stability is controlled by sumoylation. J Mol Endocrinol (2008) 0.84
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance. Clin Chem Lab Med (2004) 0.83
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. Hum Reprod (2011) 0.83
Ultrasound characteristics of different types of adnexal malignancies. Gynecol Oncol (2005) 0.83
A small randomised trial of low-dose aspirin in women at high risk of pre-eclampsia. Eur J Obstet Gynecol Reprod Biol (2004) 0.82
The ribonuclease/angiogenin inhibitor is also present in mitochondria and nuclei. FEBS Lett (2011) 0.82
Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia. Cell Mol Neurobiol (2005) 0.82
ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet Gynecol (2014) 0.82
Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants. Prenat Diagn (2006) 0.81
Phorbol esters induce intracellular accumulation of the anti-apoptotic protein PED/PEA-15 by preventing ubiquitinylation and proteasomal degradation. J Biol Chem (2007) 0.81
Differential recognition of a tyrosine-dependent signal in the basolateral and endocytic pathways of thyroid epithelial cells. Endocrinology (2002) 0.81
Functional interaction between p75NTR and TrkA: the endocytic trafficking of p75NTR is driven by TrkA and regulates TrkA-mediated signalling. Biochem J (2005) 0.81
An emerging phenotype of proximal 11q deletions. Eur J Med Genet (2010) 0.81
Prenatal 2D and 3D ultrasound diagnosis of diprosopus: case report with post-mortem magnetic resonance images (MRI) and review of the literature. Prenat Diagn (2009) 0.81
Collaborative study on 4-dimensional echocardiography for the diagnosis of fetal heart defects: the COFEHD study. J Ultrasound Med (2010) 0.81
The challenge of fetal dysrhythmias: echocardiographic diagnosis and clinical management. J Cardiovasc Med (Hagerstown) (2008) 0.80
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. Acta Paediatr (2006) 0.80
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). Clin Dysmorphol (2005) 0.80
Prenatal ultrasound diagnosis of frontonasal dysplasia. Prenat Diagn (2002) 0.79
Quantification of regional left and right ventricular longitudinal function in 75 normal fetuses using ultrasound-based strain rate and strain imaging. Ultrasound Med Biol (2005) 0.79
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet A (2011) 0.79
The role of proteases in fibronectin matrix remodeling in thyroid epithelial cell monolayer cultures. Biol Chem (2002) 0.79
Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital. Ital J Pediatr (2009) 0.78
Left ventricular remodelling in outflow tract obstructive lesions during fetal life. J Cardiovasc Med (Hagerstown) (2006) 0.78
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. Epigenetics (2011) 0.78
New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome? Am J Med Genet A (2003) 0.78
Prenatal sonographic diagnosis of Rubinstein-Taybi syndrome. J Ultrasound Med (2009) 0.78
Two-dimensional strain to assess regional left and right ventricular longitudinal function in 100 normal foetuses. Eur J Echocardiogr (2008) 0.78
Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma. Detection of a novel chromosomal abnormality. Childs Nerv Syst (2002) 0.77
Pregnancy in a woman with a history of Budd-Chiari syndrome treated by porto-systemic shunt, protein C deficiency and bicornuate uterus. Thromb Haemost (2006) 0.77
Interferon alfa treatment for pregnant women affected by essential thrombocythemia: case reports and a review. Am J Obstet Gynecol (2004) 0.77
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. Hum Mol Genet (2012) 0.77
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype. Am J Med Genet A (2012) 0.76
A role for the intersubunit disulfides of seminal RNase in the mechanism of its antitumor action. Eur J Biochem (2003) 0.76
The neuroendocrine protein VGF is sorted into dense-core granules and is secreted apically by polarized rat thyroid epithelial cells. Exp Cell Res (2004) 0.76
[Glutathione and N-acetylcysteine in the prevention of free-radical damage in the initial phase of septic shock]. Recenti Prog Med (2002) 0.76
Prenatal detection of multiple fetal anomalies following inadvertent exposure to cyclophosphamide in the first trimester of pregnancy. Birth Defects Res A Clin Mol Teratol (2004) 0.76
Lower birth-weight in neonates of mothers carrying factor V G1691A and factor II A(20210) mutations. Haematologica (2002) 0.76
Unbalanced translocation (3;5)(q26.1;p14): a clinical report. Am J Med Genet (2002) 0.76
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. Eur J Med Genet (2008) 0.76
Epidemiological and clinical features of pregnant women with HIV: a 21-year perspective from a highly specialized regional center in southern Italy. HIV Clin Trials (2008) 0.76
Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A (2008) 0.76
Short 9q interstitial deletion in a neonate with lethal non-immune hydrops. Am J Med Genet A (2008) 0.75
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. Eur J Med Genet (2013) 0.75
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome. J Prenat Med (2008) 0.75
A new patient with Lowry-Wood syndrome with mild phenotype. Am J Med Genet A (2003) 0.75
Evaluation of the Automated QIAsymphony SP/AS Workflow for Cytomegalovirus DNA Extraction and Amplification from Dried Blood Spots. Intervirology (2017) 0.75
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A (2013) 0.75
Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? Am J Med Genet A (2010) 0.75
Adverse outcome in women with thrombophilia and bilateral uterine artery notches. Fertil Steril (2006) 0.75
Cardiac troponin T and amino-terminal pro-natriuretic peptide concentrations in fetuses in the second trimester and in healthy neonates. Clin Chem Lab Med (2006) 0.75
Choroid plexus carcinoma: prenatal characterization by 3-dimensional sonography and magnetic resonance imaging, perinatal management, and natural history. J Ultrasound Med (2012) 0.75