Published in Cancer Genet Cytogenet on March 15, 1986
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology (2008) 2.37
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Zinc sulfate supplementation improves thyroid function in hypozincemic Down children. Biol Trace Elem Res (1999) 2.03
Effect of photic stimulation on human visual cortex lactate and phosphates using 1H and 31P magnetic resonance spectroscopy. J Cereb Blood Flow Metab (1992) 1.86
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia (2000) 1.80
Comparison and reproducibility of visual echocardiographic and quantitative radionuclide left ventricular ejection fractions. Am J Cardiol (1996) 1.69
Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia (2004) 1.48
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. J Neurol Neurosurg Psychiatry (2009) 1.41
Proposed definition of 'poor mobilizer' in lymphoma and multiple myeloma: an analytic hierarchy process by ad hoc working group Gruppo ItalianoTrapianto di Midollo Osseo. Bone Marrow Transplant (2011) 1.32
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod (2004) 1.29
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Murine model of Clostridium difficile infection with aged gnotobiotic C57BL/6 mice and a BI/NAP1 strain. J Infect Dis (2010) 1.19
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet (1997) 1.13
Proton magnetic resonance spectroscopy of human brain: applications to normal white matter, chronic infarction, and MRI white matter signal hyperintensities. Magn Reson Med (1992) 1.07
The distribution of genes on chromosomes: a cytological approach. J Mol Evol (1993) 1.07
Relationship between ascorbic acid and cell division. Exp Cell Res (1984) 1.06
Fotemustine plus etoposide, cytarabine and melphalan (FEAM) as a new conditioning regimen for lymphoma patients undergoing auto-SCT: a multicenter feasibility study. Bone Marrow Transplant (2009) 1.05
Emergence of fluconazole-resistant strains of Blastoschizomyces capitatus causing nosocomial infections in cancer patients. J Clin Microbiol (1996) 1.04
Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet Cell Genet (1996) 1.03
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. Hum Mol Genet (1996) 1.02
Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization. Cytogenet Cell Genet (2001) 1.02
Modification of glycosylated haemoglobin concentration during artificial endocrine pancreas treatment of diabetics. Evidence for a short-term effect on HbA 1 (a+b+c) levels. Diabetologia (1980) 1.01
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve (2003) 1.00
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. J Med Genet (2002) 1.00
Pulmonary hypertension related to thalidomide therapy in refractory multiple myeloma. Ann Oncol (2005) 0.99
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Invest (2003) 0.99
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. Eur J Hum Genet (1998) 0.98
Proton magnetic resonance spectroscopy and intracranial tumours: clinical perspectives. J Neurol (1996) 0.98
Osteomyelitis and intervertebral discitis caused by Blastoschizomyces capitatus in a patient with acute leukemia. J Clin Microbiol (1994) 0.98
SHOX mutations detected by FISH and direct sequencing in patients with short stature. J Med Genet (2003) 0.96
Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases. Leukemia (2012) 0.96
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet (1996) 0.96
Use of premixed insulin among the elderly. Reduction of errors in patient preparation of mixtures. Diabetes Care (1992) 0.95
Optimized parameters for microencapsulation of pancreatic islet cells: an in vitro study clueing on islet graft immunoprotection in type 1 diabetes mellitus. Transpl Immunol (2004) 0.95
A nosocomial cluster of Candida inconspicua infections in patients with hematological malignancies. J Clin Microbiol (1998) 0.94
Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations. Eur J Hum Genet (1999) 0.92
The mechanisms involved in the action of metformin in regulating ovarian function in hyperandrogenized mice. Mol Hum Reprod (2006) 0.92
The increase of hydroxyproline-containing proteins in Jerusalem artichoke mitochondria during the development of cyanide-insensitive respiration. Biochem Biophys Res Commun (1977) 0.92
Lack of glucagon response in glucose counter-regulation in type 1 (insulin-dependent) diabetics: absence of recovery after prolonged optimal insulin therapy. Diabetologia (1982) 0.92
Pre-emptive treatment of acute GVHD: a randomized multicenter trial of rabbit anti-thymocyte globulin, given on day+7 after alternative donor transplants. Bone Marrow Transplant (2009) 0.91
Progressive brain failure after diffuse hypoxic ischemic brain injury: a serial MR and proton MR spectroscopic study. AJNR Am J Neuroradiol (1998) 0.91
Thyroid hormones enhance growth and counteract apoptosis in human tenocytes isolated from rotator cuff tendons. Cell Death Dis (2013) 0.90
Response of female Cydia molesta (Lepidoptera: Tortricidae) to plant derived volatiles. Bull Entomol Res (2003) 0.90
Efficacy of caspofungin as secondary prophylaxis in patients undergoing allogeneic stem cell transplantation with prior pulmonary and/or systemic fungal infection. Bone Marrow Transplant (2007) 0.90
Necrotizing pneumonia caused by Penicillium chrysogenum. J Clin Microbiol (1997) 0.90
Ring chromosome 11. A case report and review of the literature. Ann Genet (1986) 0.90
A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female. Clin Genet (1994) 0.89
Effects of periodontal therapy on glucose management in people with diabetes mellitus. Diabetes Metab (2011) 0.88
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet (1998) 0.87
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. Clin Genet (2010) 0.87
Continuous subcutaneous insulin infusion treatment in insulin-dependent diabetic patients: a comparison with conventional optimized treatment in a long-term study. Diabetes Care (1984) 0.87
Stable suspension of erythrocytes suitable for calibration of the electronic counters. Acta Haematol (1971) 0.87
Effects of chronic alcohol abuse and HIV infection on brain phosphorus metabolites. Alcohol Clin Exp Res (1995) 0.87
Ascorbic acid requirement for biosynthesis of hydroxyproline-containing proteins in plants. FEBS Lett (1977) 0.87
Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter). Clin Genet (1997) 0.87
Impact of bovine oocyte maturation media on oocyte transcript levels, blastocyst development, cell number, and apoptosis. Biol Reprod (2000) 0.87
The presence of ochratoxin A in cord serum and in human milk and its correspondence with maternal dietary habits. Eur J Nutr (2010) 0.87
Transmission of anti-HCV within the household of haemodialysis patients. Lancet (1991) 0.86
Change in glucose metabolism after long-term treatment with deflazacort and betamethasone. Eur J Clin Pharmacol (1992) 0.86
Hepatitis C virus heteroduplex tracking assay for genotype determination reveals diverging genotype 2 isolates in Italian hemodialysis patients. J Clin Microbiol (1998) 0.86
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. J Clin Endocrinol Metab (2000) 0.86
Asymmetrical distribution of beta-endorphin in cerebral hemispheres of suicides: preliminary data. Psychiatry Res (1990) 0.86
Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics (1994) 0.85
Stem cells from fetal membranes - a workshop report. Placenta (2007) 0.85
Interleukin-2 with or without LAK cells in metastatic renal cell carcinoma: a report of a European multicentre study. Eur J Cancer Clin Oncol (1989) 0.85
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. J Endocrinol Invest (2006) 0.85
[Longitudinal changes of pulmonary function in workers with high wood dust exposure levels]. Med Lav (2006) 0.85
A new case of pure partial 7q duplication. Cytogenet Genome Res (2011) 0.85
Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet A (2003) 0.84
Calcitriol pulse therapy for severe hyperparathyroidism or calcium salts as phosphate binders in renal dialysis patients? Nephron (1995) 0.84
Quantitative comparison of single-isotope and dual-isotope stress-rest single-photon emission computed tomographic imaging for reversibility of defects. J Nucl Cardiol (1997) 0.84
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. J Med Genet (1999) 0.84
Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. Eur J Hum Genet (2000) 0.84