Published in Clin Genet on December 01, 1980
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. J Med Genet (1991) 0.82
Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems. J Med Genet (1982) 0.76
Abnormal chromosome complement resulting from a familial inversion of chromosome 2. J Med Genet (1989) 0.75
Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study. Lancet (1998) 5.08
Prevalence of metabolic syndrome in patients with psoriasis: a hospital-based case-control study. Br J Dermatol (2007) 2.40
Neurofibromatosis type 1 growth charts. Am J Med Genet (1999) 2.32
Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. Rheumatology (Oxford) (2005) 2.19
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet (1993) 1.81
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet (2000) 1.70
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
PIBI(D)S: clinical and molecular characterization of a new case. J Eur Acad Dermatol Venereol (2001) 1.45
STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res (1998) 1.45
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. J Med Genet (1990) 1.44
Spontaneous resolution of cystic hygroma in a 46,XX normal female. Prenat Diagn (1990) 1.40
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet (1999) 1.40
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis (1993) 1.32
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet (1996) 1.31
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet (2004) 1.25
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet (1996) 1.24
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Family history, smoking habits, alcohol consumption and risk of psoriasis. Br J Dermatol (1992) 1.19
Chromosomal congenital anomalies and residence near hazardous waste landfill sites. Lancet (2002) 1.17
Auto-immune disorders in localized scleroderma. Arch Dermatol Res (1990) 1.12
Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries. Teratology (1993) 1.11
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09
Natural course of subclinical hypothyroidism in Down's syndrome: prospective study results and therapeutic considerations. J Endocrinol Invest (1995) 1.08
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe. J Med Screen (2000) 1.03
Methimazole embryopathy: delineation of the phenotype. Am J Med Genet (1999) 1.03
The epidemiology of atopic dermatitis in Italian schoolchildren. Allergy (2003) 1.03
Terminal deletion of the short arm of chromosome 5. Clin Genet (1988) 1.03
A new case of trisomy for the short arm of No. 9 chromosome. J Med Genet (1973) 1.02
Incidence and significance of organ-specific autoimmune disorders (clinical, latent or only autoantibodies) in patients with vitiligo. Dermatologica (1985) 1.02
Partial trisomy 9 : clinical and cytogenetic correlations. Ann Genet (1979) 1.01
Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet (1991) 1.01
Vitiligo and autoimmune polyendocrine deficiencies with autoantibodies to melanin-producing cells. Arch Dermatol (1979) 1.01
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Am J Med Genet (1998) 1.01
Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum Genet (1989) 0.99
Vitiligo and polyglandular autoimmune disease with autoantibodies to melanin-producing cells. A new syndrome? Arch Dermatol (1981) 0.99
Effect of ofloxacin on Treponema pallidum in incubating experimental syphilis. Genitourin Med (1987) 0.98
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet (2004) 0.98
Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case. Ann Genet (1975) 0.97
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis (1996) 0.96
CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes. Hum Genet (1999) 0.95
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy. Am J Med Genet (1983) 0.94
Immunoglobulin heavy chain variable region family expression in primary cutaneous follicle centre cell lymphomas. Br J Dermatol (2001) 0.94
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy. Am J Med Genet (1996) 0.94
Effects of complement inactivation and IgG depletion on skin reactivity to autologous serum in chronic idiopathic urticaria. J Allergy Clin Immunol (2000) 0.94
[Familial translocation t(6; 18) (q16; q16; q23) with free 21 trisomy]. Ann Genet (1974) 0.93
Pseudoxanthoma elasticum. Biochemical and ultrastructural studies. Dermatologica (1981) 0.92
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet (1990) 0.92
Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns. Reprod Toxicol (1995) 0.91
Skin cancer in heart transplant recipients: frequency and risk factor analysis. J Heart Lung Transplant (2000) 0.91
Early detection of melanoma: an educational campaign in Padova, Italy. Melanoma Res (2000) 0.90
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12]. Ann Genet (1976) 0.90
Letter: Autoantibodies in alopecia areata. Arch Dermatol (1975) 0.90
Methylmalonic acidemia and vitamin B12 dependency. Acta Paediatr Scand (1970) 0.90
Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin Genet (1984) 0.89
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p). Hum Genet (1993) 0.89
Anticentromere antibody in localized scleroderma. J Am Acad Dermatol (1986) 0.88
Prevalence and characteristics of anti-single-stranded DNA antibodies in localized scleroderma. Comparison with systemic lupus erythematosus. Arch Dermatol (1991) 0.88
An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. N Engl J Med (1986) 0.88
Risk of nonmelanoma skin cancer in Italian organ transplant recipients. A registry-based study. Transplantation (2000) 0.87
Generalized granuloma annulare treated with methylaminolevulinate photodynamic therapy. Dermatology (2009) 0.87
Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity? Acta Ophthalmol Scand (1998) 0.86
Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group. Prenat Diagn (2000) 0.86
Mild balanoposthitis. Genitourin Med (1994) 0.86
Clinical application of genetic polymorphism in neurofibromatosis type 1. Ann Genet (1996) 0.86
Health-related quality of life in psoriasis: an analysis of Psocare project patients. G Ital Dermatol Venereol (2011) 0.86
Inheritance of astigmatism: evidence for a major autosomal dominant locus. Am J Hum Genet (1998) 0.86
Ultrastructural and biochemical studies on a case of elastosis perforans serpiginosa. Dermatologica (1978) 0.85
Testosterone and bone loss in Klinefelter syndrome. Horm Metab Res (1983) 0.85
Consensus on the use of the fixed combination calcipotriol/betamethasone dipropionate in the treatment of plaque psoriasis. G Ital Dermatol Venereol (2012) 0.85
Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families. Hum Genet (1982) 0.85
Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. Dig Liver Dis (2007) 0.85
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? Am J Med Genet (1986) 0.85
Tumour necrosis factor alpha is expressed in refractory skin lesions from patients with subacute cutaneous lupus erythematosus. Ann Rheum Dis (2005) 0.85
Chronic granulomatous disease in an adult female with granulomatous cheilitis. Evidence for an X-linked pattern of inheritance with extreme lyonization. Acta Haematol (1990) 0.84
Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy. Birth Defects Orig Artic Ser (1996) 0.84
Clinical anophthalmia: an epidemiological study in northeast Italy based on 368,256 consecutive births. Teratology (1992) 0.83
Partial duplication of 17 long arm. Ann Genet (1988) 0.82
Screening test for Y chromosome in newborn using urinary epithelial cells. Lancet (1971) 0.82
Thyroid function in patients with Down syndrome: preliminary results from non-institutionalized patients in the Veneto region. Am J Med Genet Suppl (1990) 0.82
Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy. Hum Hered (1995) 0.82
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. Br J Dermatol (1986) 0.82
New insights into the autoantibody-mediated mechanisms of autoimmune bullous diseases and urticaria. Clin Exp Rheumatol (2006) 0.82