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Landscape of Constitutional SOX4 Variation in Human Disorders

Genes, 2024-01, Vol.15 (2), p.158

2024

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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Journal of medical genetics, 2022-04, Vol.59 (4), p.399

2022

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Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome

Genes, 2023-01, Vol.14 (2), p.258

2023

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Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles

Genes, 2023-06, Vol.14 (6), p.1230

2023

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Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Genes, 2020-11, Vol.11 (11), p.1

2020

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Kidney international, 2020-12, Vol.98 (6), p.1589-1604

2020

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Kidney Transplant in Fabry Disease: A Revision of the Literature

Medicina (Kaunas, Lithuania), 2020-06, Vol.56 (6), p.284

2020

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A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

Journal of the neurological sciences, 2017-10, Vol.381, p.209-212

2017

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Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature

Genes, 2021-09, Vol.12 (10), p.1513

2021

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Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Gene, 2015-04, Vol.559 (2), p.144-148

2015

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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

International journal of molecular sciences, 2017-09, Vol.18 (10), p.2071

2017

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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Biomedicines, 2023-02, Vol.11 (3), p.703

2023

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There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

Biomedicines, 2021-12, Vol.10 (1), p.12

2021

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A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Genes, 2021-05, Vol.12 (5), p.716

2021

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Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Clinical chemistry and laboratory medicine, 2015-10, Vol.53 (11), p.1719

2015

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Landscape of Constitutional ISOX4/I Variation in Human Disorders

Genes, 2024-01, Vol.15 (2)

2024

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

EMBO molecular medicine, 2014-06, Vol.6 (6), p.795-809

2014

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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1576-n/a

2021

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Glanuloplasty With Urethral Flap After Partial Penectomy

The Journal of urology, 2011, Vol.185 (1), p.204-206

2011

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Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

Annals of clinical and translational neurology, 2018-06, Vol.5 (6), p.777-783

2018

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

EMBO molecular medicine, 2014-12, Vol.6 (12), p.1639-1639

2014

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Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of IPKD1/I Hypomorphic Alleles

Genes, 2023-06, Vol.14 (6)

2023

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Landscape of Constitutional SOX4 Variation in Human Disorders

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Kidney Transplant in Fabry Disease: A Revision of the Literature

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature

Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Landscape of Constitutional ISOX4/I Variation in Human Disorders

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

Glanuloplasty With Urethral Flap After Partial Penectomy

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of IPKD1/I Hypomorphic Alleles

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