Published in Acta Neuropathol on November 12, 2009
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Delineation of the role of the Mre11 complex in class switch recombination. J Biol Chem (2004) 1.16
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Relative expression of mRNAS coding for glutaminase isoforms in CNS tissues and CNS tumors. Neurochem Res (2007) 0.98
Activation of Akt and Erk pathways in medulloblastoma. Folia Neuropathol (2006) 0.98
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Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer (2009) 0.97
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat (2006) 0.97
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur J Paediatr Neurol (2009) 0.96
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int J Cancer (2006) 0.94
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet (2015) 0.94
Changing treatment and outcome of children with hepatoblastoma: analysis of a single center experience over the last 20 years. J Pediatr Surg (2012) 0.93
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Ectopic cerebellum in anterior cranial fossa: Report of a unique case associated with skull congenital malformations and epilepsy. Am J Surg Pathol (2007) 0.91
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. J Inherit Metab Dis (2010) 0.90
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis (2006) 0.90
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. Hum Mutat (2005) 0.90
X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene. Clin Dysmorphol (2009) 0.89
Long-term results of vagus nerve stimulation in children and adolescents with drug-resistant epilepsy. Childs Nerv Syst (2012) 0.89
Intraspinal mesenchymal chondrosarcoma in a 14-year-old patient: diagnostic and therapeutic problems in relation to the review of literature. J Pediatr Hematol Oncol (2012) 0.88
Advanced reactive astrogliosis associated with hemangioblastoma versus astroglial-vascular neoplasm ("angioglioma"). Folia Neuropathol (2007) 0.88
The relationship between clinical measurements and gait analysis data in children with cerebral palsy. Gait Posture (2013) 0.86
Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. Eur J Paediatr Neurol (2011) 0.86
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatr (2011) 0.86
Discriminant analysis involving serum cytokine levels and prediction of the response to therapy of patients with Hodgkin lymphoma. Tumour Biol (2012) 0.86
New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics (2011) 0.85
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia (2011) 0.85
Antenatal diagnosis of the congenital craniopharyngioma. Pol J Radiol (2010) 0.84
Expression and significance of HER family receptors in neuroblastic tumors. Clin Exp Metastasis (2011) 0.84
Transitional liver cell tumors (TLCT) in older children and adolescents: a novel group of aggressive hepatic tumors expressing beta-catenin. Med Pediatr Oncol (2002) 0.84
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet (2010) 0.84
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene (2009) 0.84
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients. Blood (2010) 0.83
Low serum IgA and increased expression of CD23 on B lymphocytes in peripheral blood in children with regressive autism aged 3-6 years old. Arch Med Sci (2012) 0.83
Patterns of failure in children with medulloblastoma treated with 3D conformal radiotherapy. Radiother Oncol (2007) 0.83
Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol (2012) 0.83
Matrix metalloproteinase-9 (MMP-9) in human intractable epilepsy caused by focal cortical dysplasia. Epilepsy Res (2012) 0.83
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol (2014) 0.83
Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type. Folia Neuropathol (2008) 0.83
Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. Folia Neuropathol (2011) 0.82
Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients. Exp Cell Res (2003) 0.82
Histopathological patterns of papillary tumour of the pineal region. Folia Neuropathol (2011) 0.82
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High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. Eur J Paediatr Neurol (2008) 0.82
[Langerhans cell sarcoma with pulmonary manifestation, mediastinum involvement and bronchoesophageal fistula. A rare location and difficulties in histopathological diagnosis]. Pneumonol Alergol Pol (2009) 0.82
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome. Pol Arch Med Wewn (2009) 0.82
[A method for prediction of growth in children with achondroplasia]. Pediatr Endocrinol Diabetes Metab (2008) 0.82
Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. Clin Immunol (2010) 0.82
Accuracy of intraoperative registration during electromagnetic neuronavigation in intracranial procedures performed in children. Neurol Neurochir Pol (2007) 0.82
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. Mitochondrion (2013) 0.81
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Hum Genet (2011) 0.81
Analysis of PI3K/AKT/mTOR signalling pathway in high risk neuroblastic tumours. Pol J Pathol (2010) 0.81
Oral candidiasis in immunosuppressed children and young adults after liver or kidney transplantation. Pediatr Dent (2010) 0.81
Spindle cell oncocytoma of the adenohypophysis - a clinicopathological and ultrastructural study of two cases. Folia Neuropathol (2010) 0.81
Phase II study of irinotecan in combination with temozolomide (TEMIRI) in children with recurrent or refractory medulloblastoma: a joint ITCC and SIOPE brain tumor study. Neuro Oncol (2013) 0.81
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history. Am J Med Genet A (2012) 0.80
Chordoid meningiomas of a different histopathological pattern: a report of two cases. Folia Neuropathol (2006) 0.80
Oral findings in patients with Nijmegen breakage syndrome: a preliminary study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2009) 0.80
Congenital brain tumors in a series of 56 patients. Childs Nerv Syst (2012) 0.80
Different BMI cardiovascular risk thresholds as markers of organ damage and metabolic syndrome in primary hypertension. Pediatr Nephrol (2008) 0.79
Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. Acta Neurobiol Exp (Wars) (2004) 0.79