PubRank

Cesare Danesino

Author PubWeight™ 52.05‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med 2004 1.72
2 Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002 1.69
3 A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood 2005 1.54
4 Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med 2007 1.52
5 Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood 2002 1.49
6 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 2010 1.49
7 Electroclinical findings in four patients with karyotype 47,XYY. Brain Dev 2010 1.41
8 Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat 2002 1.13
9 Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci 2011 1.06
10 Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. Eur J Dermatol 2007 1.02
11 Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat 2007 1.01
12 The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. Br J Haematol 2009 0.99
13 Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association. Chest 2013 0.98
14 Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol 2009 0.96
15 Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr 2002 0.95
16 Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer 2006 0.95
17 Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis 2010 0.95
18 Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. Am J Dermatopathol 2008 0.93
19 High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol 2004 0.93
20 Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord 2004 0.92
21 Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood 2006 0.92
22 Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet 2007 0.91
23 Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet 2008 0.90
24 Clinical, genetic and immunologic analysis of a family affected by ozena. Eur Arch Otorhinolaryngol 2003 0.89
25 Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol 2002 0.87
26 Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis. Br J Haematol 2006 0.86
27 Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. J Inherit Metab Dis 2010 0.85
28 The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. Genet Med 2010 0.84
29 Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006 0.82
30 Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol 2010 0.82
31 Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis 2014 0.81
32 Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis? Mol Genet Metab 2012 0.81
33 Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One 2011 0.80
34 Ptosis as a feature of late-onset glycogenosis type II. Neurology 2007 0.80
35 Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord 2010 0.80
36 Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. Haematologica 2012 0.79
37 Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. Am J Rhinol Allergy 2009 0.79
38 Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet 2004 0.79
39 The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. Pediatr Blood Cancer 2011 0.78
40 Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. Acta Otolaryngol 2012 0.78
41 Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosomes Cancer 2004 0.78
42 Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. Int J Hematol 2014 0.77
43 Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med Biol 2008 0.77
44 Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI. Mol Genet Metab 2010 0.77
45 Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): a case-series. Ophthalmic Genet 2010 0.77
46 Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Adv Ther 2008 0.77
47 Histiocytic disorders. Hematol J 2003 0.76
48 Del 22Q11.2 and hemophagocytic lymphohistiocytosis: a non-random association. Am J Med Genet A 2003 0.76
49 Deletion of PAX9 and oligodontia: a third family and review of the literature. Int J Paediatr Dent 2008 0.76
50 Epidermal growth factor receptor overexpression/amplification in adenocarcinomas arising in the gastrointestinal tract. Rev Esp Enferm Dig 2011 0.76
51 Incidence of Shwachman-Diamond syndrome. Pediatr Blood Cancer 2012 0.76
52 Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet Med 2006 0.76
53 Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. Int J Hematol 2013 0.76
54 Dietary treatment in adult-onset type II glycogenosis. J Inherit Metab Dis 2006 0.76
55 Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia. Am J Rhinol 2006 0.75
56 Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia. BMJ Case Rep 2010 0.75
57 Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. Mol Syndromol 2013 0.75
58 Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. Cancer Genet Cytogenet 2007 0.75
59 Narrow-band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients. Laryngoscope 2013 0.75
60 Familial occurrence of Turner syndrome: casual event or increased risk? J Pediatr Endocrinol Metab 2011 0.75
61 Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. J Dermatol Sci 2011 0.75
62 Smith-Magenis syndrome and growth hormone deficiency. Eur J Pediatr 2004 0.75
63 Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients. Am J Med Genet A 2015 0.75
64 Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome. Am J Med Genet A 2015 0.75
65 Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome. Am J Med Genet A 2004 0.75
66 Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. Br J Haematol 2014 0.75
67 Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. ScientificWorldJournal 2007 0.75
68 Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile. Clin Dysmorphol 2005 0.75
69 Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? Clin Dysmorphol 2013 0.75