A. Orrico

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

A Rett syndrome MECP2 mutation that causes mental retardation in men

A. Federico, M. Dotti, C. Lam, 2002, Neurology.

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

B. Conrad, C. Haenggeli, A. Bottani, 2007, American journal of medical genetics. Part A.

Selective 1H-NMR relaxation investigations of membrane-bound drugs in vitro. 3. Calcium-entry blockers and adenosine.

F. Pasini, P. Capecchi, A. Orrico, 1990, Biophysical chemistry.

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)

A. Musacchio, M. L. Cavaliere, V. Sorrentino, 2000, FEBS letters.

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia

A. Covacci, V. Sorrentino, S. Censini, 2006, Human mutation.

Retinochoroidal atrophy in two adult patients with Angelman syndrome

A. Federico, M. Dotti, C. Battisti, 2003, American journal of medical genetics. Part A.

SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

R. Zannolli, V. Sorrentino, S. Buoni, 2006, Neurology.

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

P. Balestri, V. Sorrentino, S. Buoni, 2009, Clinical genetics.

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

T. Mazza, S. Castellana, M. Castori, 2020, Biomedicines.

Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

V. Sorrentino, M. Zappella, G. Hayek, 2005, American journal of medical genetics. Part A.

Conformation and dynamics of the chemotactic peptide formyl-L-methionyl-L-leucyl-L-phenylalanine in solution.

F. Pasini, P. Capecchi, A. Orrico, 2009, International journal of peptide and protein research.

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Annette Schenck, Arif B Ekici, André Reis, 2009, American journal of human genetics.

Possible case of Pitt-Hopkins syndrome in sibs.

F. Torricelli, C. Lam, M. Zappella, 2001, American journal of medical genetics.

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature

P. Piomboni, A. Giansanti, A. Orrico, 2015, International journal of fertility & sterility.

Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia

A. Federico, A. Malandrini, M. Dotti, 2008, Anesthesiology.

The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family

A. Orrico, L. Galli, Maja Rossi, 2020, Neuropediatrics.

Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

J. Brunberg, P. Hagerman, S. Jacquemont, 2005, Journal of Medical Genetics.

Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

P. Marcolongo, A. Benedetti, D. Melis, 1999, FEBS letters.

Benzodiazepines inhibit in vitro free radical formation from human neutrophils induced by FMLP and A23187.

F. Laghi Pasini, A. Pasqui, P. Capecchi, 1987, Immunopharmacology and immunotoxicology.

Complement-mediated polymorphonuclear leukocyte aggregation in vitro induced by levamisole.

F. Laghi Pasini, A. Pasqui, P. Capecchi, 1982, Journal of immunopharmacology.

Allopurinol prevents ischaemia-dependent haemorheological changes

P. Capecchi, F. Laghi Pasini, A. Pasqui, 2004, European Journal of Clinical Pharmacology.

Autonomic Dysfunction in Mental Retardation and Spastic Paraparesis With MECP2 Mutation

A. Federico, M. Dotti, C. Battisti, 2004, Journal of child neurology.

Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient

M. Zappella, G. Hayek, A. Orrico, 2001, Journal of child neurology.

SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME

P. Balestri, V. Sorrentino, S. Grosso, 2007, Neurology.

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.

F. Torricelli, A. Orrico, Maja Rossi, 2013, Clinical dysmorphology.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

A. Orrico, Michel Campos Ribeiro, Eliene Magda de Assis, 2021, Genetics research.

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

K. Devriendt, J. Clayton-Smith, L. Faivre, 2010, American journal of medical genetics. Part A.

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

J. Fryns, L. Garavelli, M. L. Cavaliere, 2004, European Journal of Human Genetics.

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

A. Pinto, F. Fava, Aurora Currò, 2021, Frontiers in Oncology.

Septo‐optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy

M. Zappella, L. Monti, G. Hayek, 2002, European journal of neurology.

In Vivo and in Vitro Evidence of an Adenosine-Mediated Mechanism of Calcium Entry Blocker Activities

P. Capecchi, M. Materazzi, F. Laghi Pasini, 1989, Angiology.

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

V. Pietrini, V. Sorrentino, A. Orrico, 2002, Cell calcium.

Heparin inhibition of polymorphonuclear leukocyte activation in vitro. A possible pharmacological approach to granulocyte-mediated vascular damage.

F. Laghi Pasini, A. Pasqui, P. Capecchi, 1984, Thrombosis research.

Defibrotide in vitro inhibits neutrophil activation by a Ca++-involving mechanism.

F. Laghi Pasini, A. Pasqui, P. Capecchi, 1987, International journal of tissue reactions.

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

V. Sorrentino, V Sorrentino, L Galli, 2009, Clinical genetics.

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

A. Federico, M. Dotti, S. Censini, 1998, American journal of medical genetics.

Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015

J. Clayton-Smith, J. Fryns, A. Orrico, 2014, European Journal of Human Genetics.

Unusually severe expression of craniofacial features in Aarskog‐Scott syndrome due to a novel truncating mutation of the FGD1 gene

V. Sorrentino, M. Falciani, A. Orrico, 2007, American journal of medical genetics. Part A.

The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

A. Federico, M. Mazzei, A. Malandrini, 2012, Neuromuscular Disorders.

Captopril-induced granulocyte aggregation. A possible complement mediated mechanism of peripheral leukopenia.

F. Laghi Pasini, A. Pasqui, P. Capecchi, 1982, Journal of immunopharmacology.

MECP2 mutation in male patients with non‐specific X‐linked mental retardation

A. Federico, M. Dotti, C. Lam, 2000, FEBS letters.

R. Marconi, A. Federico, M. Dotti, 2018, Acta neurologica Scandinavica.

Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

V. Sorrentino, M. Zollino, S. Buoni, 2009, American journal of medical genetics. Part A.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

F. Signore, A. Cavaliere, A. Orrico, 2021, Genes.

Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism

L. Comini, K. Plewnia, A. Orrico, 2018, Medicine.

Spinocerebellar Ataxia Type 2 (Sca2) Associated with Retinal Pigmentary Degeneration

A. Federico, M. Dotti, A. Rufa, 2002, European Neurology.

Adenosine inhibits polymorphonuclear leukocyte in vitro activation: a possible role as an endogenous calcium entry blocker.

F. Pasini, P. Capecchi, A. Orrico, 1985, Journal of immunopharmacology.

Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)

J. Clayton-Smith, J. Fryns, A. Orrico, 2011, European Journal of Human Genetics.

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia

F. P. Luongo, P. Piomboni, A. Luddi, 2023, Frontiers in Genetics.

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly

V. Sorrentino, S. Buoni, A. Orrico, 2009, Clinical genetics.

Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

V. Sorrentino, M. Zollino, S. Buoni, 2009, American journal of medical genetics. Part A.

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

M. Battaglini, S. Marino, A. Giorgio, 2006, Journal of Neurology.

Hemorheological Factors in the Pathophysiology of Acute and Chronic Cerebrovascular Disease

P. Capecchi, M. Guerrini, F. Pasini, 1985, Cephalalgia : an international journal of headache.

Receptors on the neutrophil membrane. I. Flunarizine-adenosine antagonism as detected by 1H-nuclear magnetic resonance relaxation investigations.

F. Laghi Pasini, A. Orrico, G. Valensin, 1987, Biophysical journal.