Published in Am J Med Genet A on March 01, 2009
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
Molecular and Clinical Aspects of Angelman Syndrome. Mol Syndromol (2011) 1.27
Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish. J Neurosci (2010) 1.13
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A. Cell (2015) 0.91
Angelman syndrome - insights into a rare neurogenetic disorder. Nat Rev Neurol (2016) 0.76
Evaluation of visual evoked potentials in patient with angelmans syndrome - case report. Balkan Med J (2013) 0.75
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol (2009) 2.58
The impact of acute and chronic graft-versus-host disease on normal and malignant B-lymphoid precursors after allogeneic stem cell transplantation for B-lineage acute lymphoblastic leukemia. Haematologica (2006) 2.13
RANK induces epithelial-mesenchymal transition and stemness in human mammary epithelial cells and promotes tumorigenesis and metastasis. Cancer Res (2012) 1.98
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet (2002) 1.55
[Impact of initial cytomegalovirus viral load on efficacy of preemptive therapy with ganciclovir in allogeneic stem cell transplant recipients]. Enferm Infecc Microbiol Clin (2009) 1.41
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet (2007) 1.33
Severe infections after unrelated donor allogeneic hematopoietic stem cell transplantation in adults: comparison of cord blood transplantation with peripheral blood and bone marrow transplantation. Biol Blood Marrow Transplant (2006) 1.28
Impact of end-stage renal disease care in planned dialysis start and type of renal replacement therapy--a Spanish multicentre experience. Nephrol Dial Transplant (2006) 1.21
Analysis of patient flow into dialysis: role of education in choice of dialysis modality. Perit Dial Int (2005) 1.16
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Am J Med Genet B Neuropsychiatr Genet (2009) 1.14
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat (2013) 1.09
Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. Cancer Genet Cytogenet (2006) 1.09
Assessment of heavy metal levels in Almendares River sediments--Havana City, Cuba. Water Res (2005) 1.07
Three-year clinical evaluation of In-Ceram Zirconia posterior FPDs. Int J Prosthodont (2004) 1.04
Epithelial-to-mesenchymal transition and stem cells in endometrial cancer. Hum Pathol (2013) 1.03
Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET. Eur J Cancer (2006) 1.03
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. J Lab Clin Med (2006) 1.03
Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. J Psychiatr Res (2010) 1.02
Ultrasound guidance for lateral midfemoral sciatic nerve block: a prospective, comparative, randomized study. Anesth Analg (2007) 1.02
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat (2012) 0.99
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). BMC Bioinformatics (2008) 0.97
Endothelial progenitor cells: a new key for endothelial dysfunction in migraine. Neurology (2012) 0.96
Do needs, symptoms or disability of outpatients with schizophrenia influence family burden? Soc Psychiatry Psychiatr Epidemiol (2008) 0.96
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet A (2006) 0.95
Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease. Mol Carcinog (2010) 0.92
PPP1CA contributes to the senescence program induced by oncogenic Ras. Carcinogenesis (2008) 0.92
MR arthrography of the shoulder using an anterior approach: optimal injection site. AJR Am J Roentgenol (2008) 0.91
MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors. J Cancer Res Clin Oncol (2008) 0.91
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab (2009) 0.90
Identification of copy number variants defining genomic differences among major human groups. PLoS One (2009) 0.89
Down-regulation of spinophilin in lung tumours contributes to tumourigenesis. J Pathol (2011) 0.89
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes. Eur J Med Genet (2006) 0.89
Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci. Am J Med Genet A (2007) 0.89
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab (2012) 0.89
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies. BMC Med Genomics (2010) 0.87
Exploring the gain of function contribution of AKT to mammary tumorigenesis in mouse models. PLoS One (2010) 0.87
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat (2010) 0.86
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. J Inherit Metab Dis (2009) 0.86
Characterization of the p53 response to oncogene-induced senescence. PLoS One (2008) 0.86
Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women. J Psychiatr Res (2010) 0.85
Clinical value of immunological monitoring of minimal residual disease in acute lymphoblastic leukaemia after allogeneic transplantation. Br J Haematol (2002) 0.85
The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma. Diagn Mol Pathol (2005) 0.85
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med (2007) 0.84
Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma. J Cancer Res Clin Oncol (2011) 0.84
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. Behav Brain Funct (2008) 0.83
Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting. J Mol Diagn (2012) 0.83
ProSeeK: a web server for MLPA probe design. BMC Genomics (2008) 0.83
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Eur J Hum Genet (2006) 0.83
Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients. Ann Hematol (2012) 0.82
MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data. BMC Bioinformatics (2011) 0.81
Reproducibility of sonographic measurements of the median nerve. J Ultrasound Med (2008) 0.81
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes. Genet Test (2006) 0.81
Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain. Melanoma Res (2005) 0.80
There is no evidence that the SDHB gene is involved in neuroblastoma development. Oncol Res (2005) 0.80
Does polysomy of chromosome 17 have a role in ERBB2 and topoisomerase IIalpha expression? Gene, mRNA and protein expression: a comprehensive analysis. Tumour Biol (2007) 0.80
Prader-Willi and Angelman syndromes: genetic counseling. Eur J Hum Genet (2009) 0.80
Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification. Transl Res (2009) 0.80
[Multilocular cystic nephroma. A diagnostic and therapeutic challenge. Report of two cases]. Arch Esp Urol (2004) 0.80
Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia. Schizophr Res (2007) 0.80
Wrist arthrography: a simple method. Eur Radiol (2005) 0.79
An evaluation of the impact of technical bias on the concordance rate between primary and recurrent tumors in breast cancer. Breast (2013) 0.79
Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts. Leuk Res (2010) 0.79
Voriconazole as primary antifungal prophylaxis in patients with neutropenia after hematopoietic stem cell transplantation or chemotherapy for acute myeloid leukemia. Eur J Haematol (2009) 0.78
Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol (2015) 0.78
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. Am J Med Genet A (2014) 0.78
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. Exp Dermatol (2011) 0.78
Chromosomal bands affected by acute oil exposure and DNA repair errors. PLoS One (2013) 0.78
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes. Eur J Hum Genet (2011) 0.78
Human inversions and their functional consequences. Brief Funct Genomics (2015) 0.78