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PRKACB and Carney Complex

The New England journal of medicine, 2014-03, Vol.370 (11), p.1065-1067

2014

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Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders

Genes, 2022-02, Vol.13 (2), p.335

2022

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Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Journal of human genetics, 2020-12, Vol.65 (12), p.1135-1141

2020

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Mowat-Wilson syndrome

Orphanet journal of rare diseases, 2007-10, Vol.2 (1), p.42-42, Article 42

2007

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Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

BMC medical genomics, 2024-03, Vol.17 (1), p.68-68, Article 68

2024

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Metabolically based liver damage pathophysiology in patients with urea cycle disorders-A new hypothesis

World journal of gastroenterology : WJG, 2017-11, Vol.23 (44), p.7930-7938

2017

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Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1248

2024

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Alazami syndrome: the first case of papillary thyroid carcinoma

Journal of human genetics, 2020-01, Vol.65 (2), p.133-141

2020

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Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia

Children (Basel), 2022-12, Vol.9 (12), p.1982

2022

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Case report: Expanding the phenotype of FOXP1 -related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

Frontiers in neurology, 2023-07, Vol.14, p.1207176

2023

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169

2012

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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

Neurogenetics, 2021-03, Vol.22 (1), p.19-25

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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Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

PloS one, 2014-01, Vol.9 (1), p.e87771

2014

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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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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 fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

Molecular genetics and metabolism reports, 2021-09, Vol.28, p.100777-100777, Article 100777

2021

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Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1028-1035

2013

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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.527-536

2015

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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6

Genes, 2019-10, Vol.10 (10), p.799

2019

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RIN2 syndrome: Expanding the clinical phenotype

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2408-2415

2016

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Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

Pediatric reports, 2018-03, Vol.10 (1), p.7514-7514

2018

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Familial Poland anomaly revisited

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.140-149

2012

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PRKACB and Carney Complex

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Mowat-Wilson syndrome

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

Metabolically based liver damage pathophysiology in patients with urea cycle disorders-A new hypothesis

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Alazami syndrome: the first case of papillary thyroid carcinoma

Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

Case report: Expanding the phenotype of FOXP1 -related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

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

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease

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

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 fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6

RIN2 syndrome: Expanding the clinical phenotype

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

Familial Poland anomaly revisited

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