PubRank

C Danesino

Author PubWeight™ 72.11‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983 2.93
2 Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society. Eur J Cancer 2003 2.39
3 The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 1996 1.53
4 A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet 2001 1.50
5 Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001 1.46
6 Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer 1996 1.45
7 Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000 1.32
8 Pathogenesis of haemophagocytic lymphohistiocytosis. Br J Haematol 2001 1.25
9 Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet 2006 1.20
10 Diagnosis of glycogenosis type II. Neurology 2008 1.16
11 Letter: Genetic heterogeneity in fucosidosis. Lancet 1973 1.13
12 The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 2009 1.12
13 Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 1996 1.10
14 Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood 2001 1.07
15 Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet 2001 1.07
16 Familial clustering of Langerhans cell histiocytosis. Br J Haematol 1999 1.06
17 Twenty-five novel mutations including duplications in the ATP7A gene. Clin Genet 2011 1.06
18 Familial hemophagocytic lymphohistiocytosis: how late can the onset be? Haematologica 2001 1.05
19 Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease. Dig Liver Dis 2005 1.04
20 Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family. J Hepatol 1997 1.03
21 Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet 2001 1.02
22 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998 1.00
23 Ring chromosome and latent centromeres. Cytogenet Cell Genet 1980 0.99
24 Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. Am J Med Genet 1997 0.99
25 Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. J Med Genet 1993 0.95
26 Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer 1996 0.95
27 Management and treatment of glycogenosis type II. Neurology 2008 0.95
28 Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 1984 0.94
29 Asymmetric Marfan syndrome. Am J Med Genet 1988 0.94
30 Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter? Eur J Echocardiogr 2008 0.92
31 Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet 1993 0.91
32 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet 1999 0.91
33 Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases. Pediatr Radiol 1989 0.90
34 Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. Br Heart J 1995 0.90
35 Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening. Ultraschall Med 2004 0.90
36 Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability, and risks on 317 completed pregnancies. Prenat Diagn 1992 0.88
37 The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet 1978 0.88
38 Triplex gene dosage effect of beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q. Hum Genet 1981 0.88
39 Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 2002 0.88
40 Involvement of the region 13q14 in a patient with adamantinoma of the long bones. Hum Genet 1990 0.87
41 Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful? Muscle Nerve 2009 0.87
42 JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia. Leukemia 2006 0.84
43 Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia 2007 0.84
44 Early onset of gastric carcinoma and constitutional deletion of 18p. Cancer Genet Cytogenet 1999 0.84
45 Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis. Eur J Neurol 2010 0.84
46 First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 1985 0.84
47 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. J Neurol 2015 0.84
48 Langerhans cell histiocytosis in two generations: a new family and review of the literature. Med Pediatr Oncol 2001 0.83
49 Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. J Med Genet 1994 0.83
50 Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genet Cytogenet 2000 0.83
51 Genetic heterogeneity for a Nijmegen breakage-like syndrome. Clin Genet 2003 0.82
52 Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? Exp Clin Endocrinol Diabetes 2011 0.81
53 Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography. Am J Med Genet A 2005 0.81
54 Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Hum Genet 1997 0.81
55 Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene. J Clin Endocrinol Metab 2010 0.81
56 Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum Genet 1979 0.80
57 [Cockayne's syndrome (study of 2 cases)]. Minerva Pediatr 1976 0.80
58 Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase. Genes Chromosomes Cancer 1990 0.80
59 Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. Br J Haematol 2000 0.79
60 Translocation X;13 in a patient with retinoblastoma. J Med Genet 1987 0.79
61 A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient. Hum Genet 1992 0.79
62 Early onset of a nasal perivascular epithelioid cell neoplasm not related to tuberous sclerosis complex. Acta Otorhinolaryngol Ital 2012 0.78
63 Cerebro-reno-digital syndrome in two sibs. Am J Med Genet 1993 0.78
64 Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis. J Ultrasound 2012 0.78
65 Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. Am J Med Genet 1999 0.78
66 Breast cancer and genetics. J Ultrasound 2011 0.78
67 Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies. Am J Med Genet 1998 0.78
68 Langerhans' cell histiocytosis: is there a role for genetics? Haematologica 2001 0.78
69 Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia. Leukemia 2001 0.77
70 Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes. Ann Hum Genet 1975 0.77
71 Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant 2002 0.77
72 Enzyme replacement therapy in late-onset type II glycogenosis. Eur J Neurol 2009 0.76
73 Familial biliary atresia. Am J Med Genet 1999 0.76
74 Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome. J Med Genet 1980 0.75
75 Pulmonary Langerhans'-cell histiocytosis. N Engl J Med 2000 0.75
76 [Prenatal diagnosis by means of amniocentesis in the 2d trimester]. Ann Ostet Ginecol Med Perinat 1978 0.75
77 Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Genet Couns 2002 0.75
78 Can GH induce chromosome breaks or microsatellite instability in GH-deficient children? J Endocrinol Invest 2004 0.75
79 Does growth hormone treatment increase chromosomal abnormalities? Clin Endocrinol (Oxf) 1997 0.75
80 Pulmonary arteriovenous malformations: percutaneous treatment preserving parenchyma in high-flow fistulae. Radiol Med 2008 0.75
81 Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy. J Lab Clin Med 1974 0.75
82 First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B. Prenat Diagn 1988 0.75
83 Hemihypertrophy and myelodysplasia. Pediatr Blood Cancer 2004 0.75
84 The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene. Br J Haematol 1999 0.75
85 Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss. Cancer Genet Cytogenet 1997 0.75
86 [Cytochemistry, autoradiography and ultrastructure of granulosa cells of the human ovary "in vitro"]. Riv Istochim Norm Patol 1975 0.75
87 Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas. Acta Neurochir Suppl (Wien) 1988 0.75
88 Deficiency 10p. Report of a case and exclusion mapping of the hexokinase 1 locus to band 10p11.2. Ann Genet 1984 0.75
89 The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. Genet Couns 2000 0.75
90 Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity. Clin Genet 1984 0.75
91 A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy. Clin Dysmorphol 1998 0.75
92 A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage. Ann Genet 1984 0.75
93 [Fraser's syndrome. (Preliminary note)]. Ann Ostet Ginecol Med Perinat 1970 0.75
94 Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders. Acta Anthropogenet 1983 0.75
95 Concurrent cytogenetic and molecular investigations in uterine and ovarian neoplasms. Eur J Gynaecol Oncol 1998 0.75
96 Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy. Prenat Diagn 1992 0.75
97 Antenatal sex determination. Lancet 1984 0.75