Published in Am J Med Genet A on March 28, 2015
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. N Engl J Med (2004) 1.72
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood (2005) 1.54
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52
Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations. Blood (2002) 1.49
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49
Electroclinical findings in four patients with karyotype 47,XYY. Brain Dev (2010) 1.41
Mowat-Wilson syndrome. Orphanet J Rare Dis (2007) 1.37
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat (2002) 1.13
The OrphanAnaesthesia project. Eur J Anaesthesiol (2011) 1.06
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia. Dig Dis Sci (2011) 1.06
Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster. Eur J Dermatol (2007) 1.02
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
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
Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association. Chest (2013) 0.98
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. Br J Haematol (2009) 0.96
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
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis (2010) 0.95
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
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. Am J Dermatopathol (2008) 0.93
High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol (2004) 0.93
Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord (2004) 0.92
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood (2006) 0.92
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
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet (2008) 0.90
Clinical, genetic and immunologic analysis of a family affected by ozena. Eur Arch Otorhinolaryngol (2003) 0.89
Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol (2002) 0.87
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
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
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. Genet Med (2010) 0.84
Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr (2011) 0.83
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet (2006) 0.82
Ptosis in Pompe disease: common genetic background in infantile and adult series. J Neuroophthalmol (2010) 0.82
Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis (2014) 0.81
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
Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord (2010) 0.80
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One (2011) 0.80
Ptosis as a feature of late-onset glycogenosis type II. Neurology (2007) 0.80
Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet (2004) 0.79
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. Haematologica (2012) 0.79
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients. Am J Rhinol Allergy (2009) 0.79
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
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. Pediatr Blood Cancer (2011) 0.78
Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds. Acta Otolaryngol (2012) 0.78
Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound. Ultrasound Med Biol (2008) 0.77
Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI. Mol Genet Metab (2010) 0.77
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia. Int J Hematol (2014) 0.77
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. Adv Ther (2008) 0.77
Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): a case-series. Ophthalmic Genet (2010) 0.77
Histiocytic disorders. Hematol J (2003) 0.76
Deletion of PAX9 and oligodontia: a third family and review of the literature. Int J Paediatr Dent (2008) 0.76
Epidermal growth factor receptor overexpression/amplification in adenocarcinomas arising in the gastrointestinal tract. Rev Esp Enferm Dig (2011) 0.76
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. Int J Hematol (2013) 0.76
Del 22Q11.2 and hemophagocytic lymphohistiocytosis: a non-random association. Am J Med Genet A (2003) 0.76
Incidence of Shwachman-Diamond syndrome. Pediatr Blood Cancer (2012) 0.76
Dietary treatment in adult-onset type II glycogenosis. J Inherit Metab Dis (2006) 0.76
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
Treatment of epistaxis in hereditary hemorrhagic telangiectasia patients by argon plasma coagulation with local anesthesia. Am J Rhinol (2006) 0.75
Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia. BMJ Case Rep (2010) 0.75
Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies. Cancer Genet Cytogenet (2007) 0.75
Neoplasia in Cri du Chat Syndrome from Italian and German Databases. Case Rep Genet (2017) 0.75
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism. Mol Syndromol (2013) 0.75
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? Clin Dysmorphol (2013) 0.75
Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance. ScientificWorldJournal (2007) 0.75
Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile. Clin Dysmorphol (2005) 0.75
Familial occurrence of Turner syndrome: casual event or increased risk? J Pediatr Endocrinol Metab (2011) 0.75
Narrow-band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients. Laryngoscope (2013) 0.75
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. J Dermatol Sci (2011) 0.75
Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome. Am J Med Genet A (2015) 0.75
Smith-Magenis syndrome and growth hormone deficiency. Eur J Pediatr (2004) 0.75
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome. Am J Med Genet A (2004) 0.75
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