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Clinical aspects of hymenoptera venom allergy and venom immunotherapy

European annals of allergy and clinical immunology, 2019-11 (online first)

2019

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Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasma-derived C1-inhibitor

Frontiers in medicine, 2022-09, Vol.9, p.930403-930403

2022

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Anaphylaxis to baobab fruit: the paradox of "natural healthy food"

European annals of allergy and clinical immunology, 2019-11, Vol.51 (6), p.282

2019

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Splenic infarction caused by a large thoracic aortic thrombus

Journal of vascular surgery, 1997-12, Vol.26 (6), p.1069-1072

1997

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Arterial Embolization Is a Rapid and Effective Technique for Controlling Pelvic Fracture Hemorrhage

The Journal of Trauma: Injury, Infection, and Critical Care, 1997-09, Vol.43 (3), p.395-399

1997

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COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

Genes, 2020-08, Vol.11 (9), p.1010

2020

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CUGC for lysinuric protein intolerance (LPI)

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1129-1134

2020

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Finite-Size Effects in Simulations of Peptide/Lipid Assembly

The Journal of membrane biology, 2022-10, Vol.255 (4-5), p.437-449

2022

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Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Genetics in medicine, 2021-02, Vol.23 (2), p.421-422

2021

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Creating New Learning Environments to Broaden Participation in STEM

Journal on excellence in college teaching, 2021, Vol.32 (4), p.5

Agolini, Susan H. B

2021

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain (London, England : 1878), 2020-04, Vol.143 (4), p.1114-1126

2020

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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect

Scientific reports, 2024-09, Vol.14 (1), p.21435-9, Article 21435

2024

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Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation

Scientific reports, 2022-06, Vol.12 (1), p.10194-12, Article 10194

2022

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

American journal of human genetics, 2021-08, Vol.108 (8), p.1450-1465

2021

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DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

Frontiers in oncology, 2021-01, Vol.10, p.614541-614541

2021

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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle

Journal of human genetics, 2024-01, Vol.69 (1), p.53-58

2024

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COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Clinical genetics, 2020-03, Vol.97 (3), p.396-406

2020

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The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype

Clinical genetics, 2020-04, Vol.97 (4), p.672-674

2020

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271

2024

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Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Frontiers in oncology, 2021-02, Vol.11, p.586288

2021

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Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

Neurological sciences, 2020-12, Vol.41 (12), p.3751-3753

2020

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Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience

Therapeutic advances in medical oncology, 2022, Vol.14, p.175883592211136-17588359221113693

2022

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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.982-987

2020

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Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Clinical genetics, 2018-03, Vol.93 (3), p.675-681

2018

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Clinical aspects of hymenoptera venom allergy and venom immunotherapy

Pregnancy in women with Hereditary Angioedema due to C1-inhibitor deficiency: Results from the ITACA cohort study on outcome of mothers and children with in utero exposure to plasma-derived C1-inhibitor

Anaphylaxis to baobab fruit: the paradox of "natural healthy food"

Splenic infarction caused by a large thoracic aortic thrombus

Arterial Embolization Is a Rapid and Effective Technique for Controlling Pelvic Fracture Hemorrhage

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

CUGC for lysinuric protein intolerance (LPI)

Finite-Size Effects in Simulations of Peptide/Lipid Assembly

Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Creating New Learning Environments to Broaden Participation in STEM

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect

Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

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