Published in Am J Med Genet A on March 09, 2012
Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies. BMC Med Genomics (2013) 0.84
Auditory and vestibular phenotypes associated with GATA3 mutation. Otol Neurotol (2014) 0.76
Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Mol Syndromol (2015) 0.75
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. J Clin Res Pediatr Endocrinol (2015) 0.75
Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region. Clin Case Rep (2017) 0.75
Therapeutic goals in the treatment of Gaucher disease. Semin Hematol (2004) 2.29
Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy. Brain Dev (2006) 2.20
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? Am J Med Genet A (2003) 1.98
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med (2006) 1.72
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
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol (2007) 1.59
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. Ann Neurol (2002) 1.48
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. J Child Neurol (2005) 1.40
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther (2007) 1.34
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
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics (2008) 1.20
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome. Mol Genet Metab (2010) 1.18
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther (2009) 1.17
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr (2003) 1.16
Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med (2015) 1.15
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool. Mol Genet Metab (2013) 1.10
In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1. BMC Dev Biol (2011) 1.10
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet (2002) 1.08
Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet (2011) 1.08
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat (2009) 1.07
PrP(C) association with lipid rafts in the early secretory pathway stabilizes its cellular conformation. Mol Biol Cell (2004) 1.07
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A (2011) 1.05
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet (2012) 1.04
Cerebellar agenesis. Neurology (2005) 1.03
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain (2014) 1.03
The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet (2005) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat (2008) 1.02
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet (2007) 0.99
PrPC is sorted to the basolateral membrane of epithelial cells independently of its association with rafts. Traffic (2002) 0.98
Physiology, pathology and relatedness of human tissues from gene expression meta-analysis. PLoS One (2008) 0.97
Immunoglobulin heavy-chain fluorescence in situ hybridization-chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative processes on cytological samples. Cancer Cytopathol (2012) 0.96
The microRNA-processing enzyme Dicer is essential for thyroid function. PLoS One (2011) 0.94
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Am J Med Genet A (2005) 0.94
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr (2004) 0.93
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet (2014) 0.92
Brain damage in glycogen storage disease type I. J Pediatr (2004) 0.92
Clinical phenotype of lathosterolosis. Am J Med Genet A (2007) 0.90
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr (2003) 0.90
Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharm Biotechnol (2011) 0.90
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. J Child Neurol (2007) 0.89
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A (2013) 0.89
The transcriptional repressor DREAM is involved in thyroid gene expression. Exp Cell Res (2005) 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
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine. Mol Ther (2012) 0.89
Tissue factor binding of activated factor VII triggers smooth muscle cell proliferation via extracellular signal-regulated kinase activation. Circulation (2004) 0.88
Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis. PLoS One (2011) 0.87
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A (2003) 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
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat (2005) 0.87
Mechanisms of gastroesophageal reflux in children with sequelae of birth asphyxia. Brain Dev (2008) 0.87
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol (2015) 0.86
Spina bifida and folate-related genes: a study of gene-gene interactions. Genet Med (2002) 0.86
Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies. J Mol Diagn (2010) 0.86
CDH16/Ksp-cadherin is expressed in the developing thyroid gland and is strongly down-regulated in thyroid carcinomas. Endocrinology (2011) 0.85
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr (2007) 0.85
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. Am J Med Genet A (2009) 0.85
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. FEBS J (2009) 0.85
Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring. Clin Dysmorphol (2012) 0.84
Pax8 protein stability is controlled by sumoylation. J Mol Endocrinol (2008) 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
Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatr Blood Cancer (2014) 0.84
Functional inactivation of the transcription factor Pax8 through oligomerization chain reaction. Mol Endocrinol (2006) 0.84
Familial occurrence of early-onset childhood absence epilepsy. Eur J Paediatr Neurol (2007) 0.84
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis (2014) 0.84
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn (2012) 0.84
Essential stations in the intracellular pathway of cytotoxic bovine seminal ribonuclease. Biochem J (2002) 0.84
Isovaleric acidemia. J Pediatr Endocrinol Metab (2011) 0.83
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
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. FEBS J (2007) 0.83
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. BMC Med Genet (2014) 0.83
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. Eur J Hum Genet (2005) 0.83
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. Eur J Med Genet (2012) 0.82