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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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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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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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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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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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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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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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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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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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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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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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Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

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

2021

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

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

2022

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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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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

CUGC for lysinuric protein intolerance (LPI)

Finite-Size Effects in Simulations of Peptide/Lipid Assembly

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

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

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

Creating New Learning Environments to Broaden Participation in STEM

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

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

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

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

Inhibition of HECT E3 ligases as potential therapy for COVID-19

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

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management

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

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

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

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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