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Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

European respiratory review, 2015-12, Vol.24 (138), p.607-620

2015

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Combining Point-of-Care Diagnostics and Internet of Medical Things (IoMT) to Combat the COVID-19 Pandemic

Diagnostics (Basel), 2020-04, Vol.10 (4), p.224

2020

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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Nature communications, 2023-03, Vol.14 (1), p.1475-1475, Article 1475

2023

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Rfx6 directs islet formation and insulin production in mice and humans

Nature (London), 2010-02, Vol.463 (7282), p.775-780

2010

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Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Nature communications, 2023-05, Vol.14 (1), p.2839-2839, Article 2839

2023

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Peritoneal Mesothelioma with Residential Asbestos Exposure. Report of a Case with Long Survival (Seventeen Years) Analyzed by Cgh-Array

International journal of molecular sciences, 2017-08, Vol.18 (8), p.1818

2017

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Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

International journal of molecular sciences, 2023-07, Vol.24 (15), p.12291

2023

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Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Medicina (Kaunas, Lithuania), 2021-12, Vol.57 (12), p.1350

2021

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A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

Genes, 2023-12, Vol.14 (12), p.2194

2023

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14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1884-1888

2016

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Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience

Annals of clinical and translational neurology, 2024-05, Vol.11 (5), p.1090-1096

2024

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'Compressed Baby Head': A New 'Abusive Head Trauma' Entity?

Children (Basel), 2023-06, Vol.10 (6), p.1003

2023

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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1238-1245

2011

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Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

Genes, 2021-06, Vol.12 (6), p.877

2021

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Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature

Human reproduction (Oxford), 2006-06, Vol.21 (6), p.1477-1483

2006

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Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH

Diagnostics (Basel), 2020-10, Vol.10 (10), p.825

2020

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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Orphanet journal of rare diseases, 2016-11, Vol.11 (1), p.149-149, Article 149

2016

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14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1289-n/a

2020

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Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti

Human mutation, 2009-09, Vol.30 (9), p.1284-1291

2009

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Characterization of a complex chromosome aberration in two cases of peritoneal mesothelioma arising primarily in the hernial sac

Pathology international, 2009-06, Vol.59 (6), p.415-421

2009

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Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature

The journal of maternal-fetal & neonatal medicine, 2024-03, Vol.35 (25), p.7840-7843

2024

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Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model

Human molecular genetics, 2022-05, Vol.31 (9), p.1389-1406

2022

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Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Human mutation, 2017-02, Vol.38 (2), p.216-225

2017

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Detection of the Emerging Rotavirus G9 Serotype at High Frequency in Italy

Journal of Clinical Microbiology, 2003-08, Vol.41 (8), p.3960-3963

2003

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Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

Combining Point-of-Care Diagnostics and Internet of Medical Things (IoMT) to Combat the COVID-19 Pandemic

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Rfx6 directs islet formation and insulin production in mice and humans

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Peritoneal Mesothelioma with Residential Asbestos Exposure. Report of a Case with Long Survival (Seventeen Years) Analyzed by Cgh-Array

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype

Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience

'Compressed Baby Head': A New 'Abusive Head Trauma' Entity?

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature

Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti

Characterization of a complex chromosome aberration in two cases of peritoneal mesothelioma arising primarily in the hernial sac

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model

Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Detection of the Emerging Rotavirus G9 Serotype at High Frequency in Italy

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