C. Danesino

V. Villanacci, F. Donato, E. Rossi, 2011, Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

G. Gimelli, G. Floridia, O. Zuffardi, 1996, American journal of human genetics.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

Genetic determinants of risk and survival in pulmonary arterial hypertension

Lisa J. Martin, Ferhaan Ahmad, W. Ouwehand, 2018, bioRxiv.

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia.

E. Buscarini, G. Pongiglione, C. Olivieri, 2004, Ultrasound in medicine & biology.

Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

G. Inama, E. Buscarini, E. Daina, 2011, Digestive Diseases and Sciences.

Muscle MRI in adult-onset acid maltase deficiency

A. Pichiecchio, G. Sandrini, C. Danesino, 2004, Neuromuscular Disorders.

Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response

P. Bini, A. Pichiecchio, M. Ponzio, 2010, Journal of Inherited Metabolic Disease.

Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases

A. Pichiecchio, M. Ponzio, S. Bastianello, 2010, Movement disorders : official journal of the Movement Disorder Society.

Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.

L. Chiovato, S. Bastianello, C. Danesino, 2010, The Journal of clinical endocrinology and metabolism.

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

C. Olivieri, C. Danesino, E. Maserati, 2003, European Journal of Pediatrics.

Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

E. Zackai, V. Shashi, F. Elmslie, 2007, Human mutation.

Peculiar Characteristics of Human Mesenchymal Stem Cell Clones Suitable as Tissue Engineering Models

G. Silvani, G. Ceccarelli, N. Crosetto, 2011 .

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

D. Pareyson, C. Gemelli, M. Grandis, 2020, Orphanet Journal of Rare Diseases.

Enzyme replacement therapy in adult‐onset glycogenosis II: Is quantitative muscle MRI helpful?

A. Pichiecchio, M. Ponzio, E. Tavazzi, 2009, Muscle & nerve.

Skin picking disorder in 97 Italian and Spanish Cri du chat patients

J. Nevado, G. Albani, C. Danesino, 2019, American journal of medical genetics. Part A.

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

C. Danesino, R. Valli, F. Pasquali, 2022, Frontiers in Genetics.

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

G. Kronnie, S. Bresolin, C. Danesino, 2014, International Journal of Hematology.

The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia

V. Rosti, F. Locatelli, C. Carlo-Stella, 2012, Pediatric blood & cancer.

Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

A. Pichiecchio, A. Malovini, P. Ceriana, 2021, Pulmonology.

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

L. Luzzatto, V. Cetica, F. Locatelli, 2016, The Journal of allergy and clinical immunology.

Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.

A. Biondi, C. Olivieri, C. Danesino, 2001, Cancer genetics and cytogenetics.

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group

G. Basso, F. Locatelli, R. Masetti, 2016, Oncotarget.

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

R. Clementi, L. Moretta, F. Liotta, 2002, Blood.

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

R. Clementi, A. Pession, L. Dupré, 2004, Blood.

Pulmonary arteriovenous malformations: percutaneous treatment preserving parenchyma in high-flow fistulae

E. Buscarini, G. Lingua, C. Danesino, 2008, La radiologia medica.

Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.

F. Locatelli, E. Nicolis, C. Danesino, 2016, Blood cells, molecules & diseases.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

S. Mondello, E. Barca, F. Montagnese, 2015, Journal of Neurology.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

S. Zucca, I. Limongelli, C. Danesino, 2022, Genes.

Specific polymorphisms of cytokine genes are associated with different risks to develop single‐system or multi‐system childhood Langerhans cell histiocytosis

M. Martinetti, M. Cuccia, M. Aricò, 2006, British Journal of Haematology.

Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2

N. Arseni, S. Ghio, L. Scelsi, 2018, Pulmonary circulation.

Cytogenetic abnormalities in PHA‐stimulated lymphocytes from patients with Langerhans cell histiocytosis

R. Clementi, C. Klersy, M. Aricò, 2000 .

The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene

R. Clementi, H. Hasle, N. Santoro, 1999, British journal of haematology.

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

F. Locatelli, E. Nicolis, G. Menna, 2009, Leukemia.

Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects.

Gabriele Rossi, F. Locatelli, M. Bernardo, 2004, Cancer genetics and cytogenetics.

Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.

C. Olivieri, C. Danesino, F. Pasquali, 2000, Cancer genetics and cytogenetics.

Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies.

G. Barosi, C. Danesino, R. Valli, 2007, Cancer genetics and cytogenetics.

Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies.

C. Danesino, F. Pasquali, E. Maserati, 1998, American journal of medical genetics.

Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies

Gabriele Rossi, F. Locatelli, M. Bernardo, 2004, Genes, chromosomes & cancer.

Gene dosage effect in acquired monosomy 7: Distinct behaviour of β‐glucuronidase and phosphoserine phosphatase

E. Campagnoli, C. Danesino, F. Pasquali, 1990, Genes, chromosomes & cancer.

Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome

E. Solcia, C. Danesino, M. Zecca, 2012, Haematologica.

18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome

G. Albani, C. Danesino, A. Guala, 2021, Neurocase.

Diagnosis of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

C. Mecucci, G. Menna, C. Danesino, 2006, Genes, chromosomes & cancer.

A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.

V. Lucidi, E. Nicolis, G. Menna, 2020, The Journal of pediatrics.

Non‐progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity

A. Azzo, C. Danesino, G. Beluffi, 1984, Clinical genetics.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

M. Clementi, M. Venturini, P. Calzavara-Pinton, 2011, Journal of dermatological science.

Cutaneous Metaplastic Synovial Cyst in Ehlers-Danlos Syndrome: Report of a Second Case

C. Danesino, S. Viglio, A. Guala, 2008, American journal of dermatopathology.

Involvement of the region 13q14 in a patient with adamantinoma of the long bones

U. Pastorino, G. Sozzi, M. Pierotti, 1990, Human Genetics.

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds

C. Tinelli, C. Olivieri, C. Danesino, 2013, Acta oto-laryngologica.

Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia Patients by Argon Plasma Coagulation with Local Anesthesia

E. Buscarini, R. Dore, V. Vespro, 2006, American journal of rhinology.

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.

C. Romano, A. Righini, M. Fumagalli, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening.

E. Buscarini, L. Buscarini, G. Pongiglione, 2004, Ultraschall in der Medizin.

GENETIC HETEROGENEITY IN FUCOSIDOSIS

K. Hirschhorn, B. Kousseff, C. Danesino, 1973, Pediatric Research.

Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient. Monitoring by interphase cytogenetics and demonstration of maternal allelic loss.

F. Locatelli, C. Danesino, F. Pasquali, 1997, Cancer genetics and cytogenetics.

Familial adult-onset Pompe disease associated with unusual clinical and histological features

E. Maccagnano, L. Morandi, F. Blàsevich, 2013, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.

Familial clustering of Langerhans cell histiocytosis

R. Arceci, J. Whitlock, R. Egeler, 1999, British journal of haematology.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

J. Honnorat, J. Saurin, E. Buscarini, 2007, Genetics in Medicine.

Deletion of PAX9 and oligodontia: a third family and review of the literature.

G. Breedveld, C. Danesino, A. Guala, 2008, International journal of paediatric dentistry.

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

C. Danesino, A. Guala, L. Van Maldergem, 2013, Clinical dysmorphology.

Asymmetric Marfan syndrome.

C. Danesino, G. Cetta, R. Burgio, 1988, American journal of medical genetics.

Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes

K. Hirschhorn, C. Danesino, N. Beratis, 1975, Annals of human genetics.

Early onset of gastric carcinoma and constitutional deletion of 18p.

F. Cadario, R. Fiocca, O. Luinetti, 1999, Cancer genetics and cytogenetics.

Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q

G. Gimelli, C. Danesino, C. Cuoco, 1981, Human Genetics.

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

B. Brambati, M. Fraccaro, G. Simoni, 2004, Human Genetics.

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

G. Floridia, O. Zuffardi, G. Chiumello, 1993, Journal of medical genetics.

Mutations in TITF-1 are associated with benign hereditary chorea.

B. D. de Vries, M. MacDonald, W. Arts, 2002, Human molecular genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Mechanism of origin in two cases of chimerism

M. Repici, S. Cristina, R. Lala, 2011 .

Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease.

E. Buscarini, C. Olivieri, C. Danesino, 2005, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Lisa J. Martin, Keith A. Marsolo, Ferhaan Ahmad, 2018, bioRxiv.

A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage.

O. Zuffardi, C. Danesino, P. Maraschio, 1984, Annales de genetique.

Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series

A. Porcellini, E. Buscarini, C. Costagliola, 2011, Ophthalmic genetics.

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

L. Notarangelo, F. Dieli, L. Moretta, 2006, Journal of Medical Genetics.

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

R. Clementi, L. Notarangelo, C. Klersy, 2001, Journal of medical genetics.

Langerhans' cell histiocytosis: is there a role for genetics?

M. Aricò, C. Danesino, 2001, Haematologica.

perforin gene A proportion of patients with lymphoma may harbor mutations of the

A. Pession, L. Dupré, F. Locatelli, 2013 .

Alcohol Consumption among Pregnant Women Detected by Carbohydrate Deficient Transferrin

R. Amadori, C. Danesino, A. Guala, 2016 .

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients

C. Danesino, A. Guala, G. Acucella, 2015, American journal of medical genetics. Part A.

Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.

C. Klersy, M. Benazzo, C. Olivieri, 2015, The Lancet. Haematology.

Clinical, genetic and immunologic analysis of a family affected by ozena

M. Martinetti, C. Montecucco, M. Benazzo, 2003, European Archives of Oto-Rhino-Laryngology.

Dietary treatment in adult-onset type II glycogenosis

A. Pichiecchio, A. Moglia, C. Danesino, 2006, Journal of inherited metabolic disease.

Management and treatment of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance

G. Faldella, C. Danesino, A. Guala, 2007, TheScientificWorldJournal.

Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society.

J. Emile, C. Klersy, M. Aricò, 2003, European journal of cancer.

Langerhans cell histiocytosis in two generations: a new family and review of the literature.

M. Aricò, R. Haupt, C. Danesino, 2001, Medical and pediatric oncology.

Histiocytic Disorders of Children and Adults: The genetics of Langerhans cell histiocytosis

M. Aricò, C. Danesino, S. Scappaticci, 2005 .

Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group.

R. Clementi, C. Klersy, M. Aricò, 2000, British journal of haematology.

Histiocytic disorders.

R. Clementi, M. Aricò, C. Danesino, 2003, The hematology journal : the official journal of the European Haematology Association.

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

F. Locatelli, N. Santoro, R. Maccario, 2002, Bone Marrow Transplantation.

Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

Abdul Waheed Khan, G. Montalbano, C. Olivieri, 2019, British journal of haematology.

Parental origin of the deletion del(20q) in Shwachman‐Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene

V. Rosti, C. Danesino, R. Valli, 2017, Genes, chromosomes & cancer.

Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

R. Clementi, A. Cometa, A. Chiocchetti, 2004, The New England journal of medicine.

First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.

B. Brambati, E. Ferrazzi, M. Fraccaro, 1985, Journal of medical genetics.

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Abdul Waheed Khan, F. Acquati, A. Shimamura, 2021, Molecular cytogenetics.

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old

E. Nicolis, C. Danesino, E. Maserati, 2019, BMJ Open.

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations

E. Nicolis, G. Babini, C. Danesino, 2018, British journal of haematology.

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2.

R. Clementi, R. Maccario, M. Aricò, 1999, American journal of medical genetics.

The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman‐Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies

A. Mastronuzzi, F. Locatelli, C. Danesino, 2009, British journal of haematology.

Deficiency 10p. Report of a case and exclusion mapping of the hexokinase 1 locus to band 10p11.2.

C. Danesino, C. Cazzadore, F. Lo Curto, 1984, Annales de genetique.

Incidence of Shwachman–Diamond syndrome

E. Nicolis, C. Danesino, F. Pasquali, 2012, Pediatric blood & cancer.

Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?

C. Danesino, L. Sainati, M. Comelli, 2011, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Cerebro-reno-digital syndrome in two sibs.

A. Plebani, C. Danesino, A. Tiberti, 1993, American journal of medical genetics.

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?

G. Floridia, S. Giglio, O. Zuffardi, 1997, Human Genetics.

Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases

F. Locatelli, C. Danesino, F. Pasquali, 1996, Genes, chromosomes & cancer.

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

R. Tenconi, G. Floridia, M. Clementi, 1993, Human Genetics.

Translocation X;13 in a patient with retinoblastoma.

O. Zuffardi, C. Danesino, G. Ponzio, 1987, Journal of medical genetics.

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome

E. Gennaro, C. Danesino, A. Guala, 2015, American journal of medical genetics. Part A.

Discordant Disease Course in a Monozygotic Twin Pair with Juvenile Myelomonocytic Leukemia

G. Kronnie, S. Bresolin, C. Danesino, 2014 .

Neoplasia in Cri du Chat Syndrome from Italian and German Databases

I. Kennerknecht, C. Danesino, A. Guala, 2017, Case reports in genetics.

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

C. Olivieri, C. Danesino, C. Alvisi, 2013, Genetics in Medicine.

Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

C. Olivieri, C. Danesino, C. Cantarini, 2023, Pediatric reports.

Narrow‐band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients

C. Danesino, F. Pagella, E. Matti, 2013, The Laryngoscope.

Correlation of Severity of Epistaxis with Nasal Telangiectasias in Hereditary Hemorrhagic Telangiectasia (HHT) Patients

C. Tinelli, C. Olivieri, C. Danesino, 2009, American journal of rhinology & allergy.

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

G. Simoni, C. Danesino, F. Lo Curto, 1988, Prenatal diagnosis.

A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient

S. Brocca, E. Gianazza, C. Danesino, 1992, Human Genetics.

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment

P. Frediani, C. Danesino, G. Beluffi, 1989, Pediatric Radiology.

Hemihypertrophy and myelodysplasia

F. Fagioli, C. Danesino, A. Guala, 2004, Pediatric blood & cancer.

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

P. Bayrak-Toydemir, L. Jovine, C. Olivieri, 2019, Gene.

Rapunzel syndrome: how to orient the diagnosis

C. Danesino, A. Guala, M. Barbaglia, 2018, Pediatric reports.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Robert I. White, W. Reardon, B. Bernhardt, 2010, American journal of medical genetics. Part A.

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia

E. Buscarini, V. Rosti, C. Olivieri, 2014, International Journal of Hematology.

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

G. Camerino, B. Bardoni, M. Cisternino, 1993, Human Genetics.

Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

C. Danesino, P. Maraschio, V. Vigi, 1979, Human Genetics.

The gene for human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect

M. Fraccaro, C. Danesino, P. Maraschio, 1978, Human Genetics.

Ring chromosome 12 and latent centromeres

O. Zuffardi, C. Danesino, F. Pavesi, 1980 .

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Journal of medical genetics.

Ring chromosome and latent centromeres.

O. Zuffardi, C. Danesino, L. Gargantini, 1980, Cytogenetics and cell genetics.

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies

B. Brambati, S. Stioui, G. Simoni, 1992, Prenatal diagnosis.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

E. Buscarini, C. Olivieri, C. Danesino, 2013, Molecular Syndromology.

Contrast echocardiography for pulmonary arteriovenous malformations screening: does any bubble matter?

C. Pedrinazzi, G. Inama, E. Buscarini, 2009, European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology.

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

A. Ciccodicola, M. D'urso, M. Mangino, 1999, European Journal of Human Genetics.

[Cockayne's syndrome (study of 2 cases)].

C. Danesino, F. Burgio, A. Calligaro, 1976, Minerva pediatrica.

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.

Laura Scelsi, L. Scelsi, G. Babini, 2018, Gene.

Changes in nutritional status and body composition during enzyme replacement therapy in adult‐onset type II glycogenosis

P. Bini, A. Pichiecchio, H. Cena, 2010, European journal of neurology.

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

E. Buscarini, C. Olivieri, C. Danesino, 2006, Genetics in Medicine.

18F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome

A. Piccardo, G. Albani, C. Danesino, 2020, The Journal of Nuclear Medicine.

Interobserver agreement in diagnosing liver involvement in hereditary hemorrhagic telangiectasia by Doppler ultrasound.

R. Stefanov, M. Gebel, E. Buscarini, 2008, Ultrasound in medicine & biology.

Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family.

S. Rossi, M. Di Stasi, E. Buscarini, 1997, Journal of hepatology.

Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis.

N. de Matthaeis, F. Draghi, G. Rapaccini, 2012, Journal of ultrasound.

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

E. Génin, E. Buscarini, F. Coulet, 2008, European Journal of Human Genetics.

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.

E. Orilieri, G. Cappellano, R. Clementi, 2006, Blood.

Genotype-phenotype correlation in Pompe disease, a step forward

C. Angelini, G. Siciliano, P. Tonin, 2014, Orphanet Journal of Rare Diseases.

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

Carmine Mollica, Anna Pichiecchio, Simona Fecarotta, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

B. Bembi, A. Moglia, Alfredo Costa, 2010, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy in severe adult-onset glycogen storage disease type II

P. Fratino, A. Pichiecchio, A. Moglia, 2008, Advances in therapy.

Diagnostic application of first trimester trophoblast sampling in 100 pregnancies

B. Brambati, M. Fraccaro, G. Simoni, 2004, Human Genetics.

Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.

G. Butti, P. Gaetani, C. Danesino, 1988, Acta neurochirurgica. Supplementum.

Gene Dosage Effect in Chorionic Villi

C. Danesino, A. Minelli, F. Rossella, 1985 .

A novel mutation and novel features in Nijmegen breakage syndrome

A. Antoccia, C. Tanzarella, A. Reis, 2001, Journal of medical genetics.

Prenatal diagnosis by trophoblast sampling

B. Brambati, G. Neri, M. Fraccaro, 2004, Human Genetics.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

G. Comi, C. Angelini, G. Iorio, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

V. Lisi, C. Olivieri, C. Danesino, 2002, Genetic counseling.

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

C. Danesino, A. Guala, M. Comelli, 2016, TheScientificWorldJournal.

Looking for an Early Diagnosis in a Late Onset Pompe Disease High Risk Population: A LOPED Study (P3.015)

G. Comi, C. Angelini, G. Iorio, 2014 .

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

E. Valente, G. Siciliano, P. Tonin, 2023, Current issues in molecular biology.

autoimmunity/lymphoproliferation and defective Fas function Variations of the perforin gene in patients with

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Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile

M. Zoppello, C. Termine, G. Lanzi, 2005, Clinical dysmorphology.

Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia

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PTOSIS AS A FEATURE OF LATE-ONSET GLYCOGENOSIS TYPE II

C. Danesino, A. Repetto, S. Ravaglia, 2007, Neurology.

Objectives and methods of the supplement

C. Danesino, 2008, Neurology.

Familial occurrence of Turner syndrome: casual event or increased risk?

D. Larizza, V. Calcaterra, C. Klersy, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

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Can GH induce chromosome breaks or microsatellite instability in GH-deficient children?

C. Olivieri, C. Danesino, M. Bozzola, 2004, Journal of endocrinological investigation.

Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR

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Enzyme replacement therapy in late‐onset type II glycogenosis

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Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

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Vascular abnormalities in the fingers of patients affected with hereditary hemorrhagic telangiectasia (HHT) as assessed by color doppler sonography

E. Buscarini, F. Draghi, C. Olivieri, 2005, American journal of medical genetics. Part A.

Does growth hormone treatment increase chromosomal abnormalities?

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Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction.

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Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.

M. Savio, G. Babini, C. Danesino, 2015, Radiation protection dosimetry.

Changes in nutritional status and body composition during enzyme replacement therapy in adult‐onset type II glycogenosis

P. Bini, A. Pichiecchio, H. Cena, 2010, European journal of neurology.

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

A. Pichiecchio, L. Morandi, G. Andria, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Ptosis in Pompe disease: common genetic background in infantile and adult series.

P. Bini, C. Danesino, S. Ravaglia, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells

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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

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A novel mutation and novel features in Nijmegen breakage syndrome.

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Vitamin B6 Neonatal Toxicity

C. Danesino, A. Guala, M. Barbaglia, 2022, Case reports in pediatrics.

Histiocytic Disorders of Children and Adults: The genetics of Langerhans cell histiocytosis

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Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

B. Brambati, M. Fraccaro, G. Simoni, 2004, Human Genetics.