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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

American journal of human genetics, 2009-11, Vol.85 (5), p.655-666

2009

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Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

Genes, 2021-01, Vol.12 (2), p.204

2021

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Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia

Frontiers in genetics, 2023-01, Vol.14, p.1062326

2023

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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Biomedicines, 2020-12, Vol.8 (12), p.631

2020

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Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Frontiers in oncology, 2021-05, Vol.11, p.649435-649435

2021

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Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature

International journal of fertility & sterility, 2016-01, Vol.9 (4), p.581-585

2016

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The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Genetics Research, 2021, Vol.2021, p.6652957-9

2021

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Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report

Medicine (Baltimore), 2018-12, Vol.97 (49), p.e13350

2018

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PEDIA: prioritization of exome data by image analysis

Genetics in medicine, 2019-12, Vol.21 (12), p.2807-2814

2019

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Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.558-558

2015

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

American journal of human genetics, 2007-05, Vol.80 (5), p.994-1001

2007

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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia

Human mutation, 2006-08, Vol.27 (8), p.830-830

2006

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Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia)

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.3-3

2011

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Analysis of malignant hyperthermia results in Padua and Siena

BMC anesthesiology, 2014-08, Vol.14 (S1), p.A4-A4, Article A4

2014

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The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor

Nephrology, dialysis, transplantation, 2011-02, Vol.26 (2), p.557-561

2011

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Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.1033-1035

2009

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MECP2 mutation in male patients with non-specific X-linked mental retardation

FEBS letters, 2000-09, Vol.481 (3), p.285-288

2000

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Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia

Anesthesiology (Philadelphia), 2008-10, Vol.109 (4), p.625-628

2008

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The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

Neuromuscular disorders : NMD, 2012-08, Vol.22 (8), p.759-762

2012

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An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Clinical dysmorphology, 2013-07, Vol.22 (3), p.115

2013

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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

European journal of human genetics : EJHG, 2004-01, Vol.12 (1), p.16-23

2004

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Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2334-2338

2007

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Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

American journal of medical genetics. Part A, 2005-05, Vol.135A (1), p.99-102

2005

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Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

Journal of neurology, 2006-11, Vol.253 (11), p.1471-1477

2006

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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report

PEDIA: prioritization of exome data by image analysis

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia)

Analysis of malignant hyperthermia results in Padua and Siena

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor

Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication

MECP2 mutation in male patients with non-specific X-linked mental retardation

Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia

The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

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