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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

International journal of molecular sciences, 2022-05, Vol.23 (11), p.5912

2022

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Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Neurogenetics, 2022, Vol.23 (1), p.81-81

2022

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A long way to syndromic short stature

Italian journal of pediatrics, 2024-09, Vol.50 (1), p.192-9, Article 192

2024

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Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

Italian journal of pediatrics, 2021-09, Vol.47 (1), p.1-185, Article 185

2021

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Neurological phenotype of Potocki–Lupski syndrome

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2317-2324

2020

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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2982-2987

2020

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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

Nature communications, 2022-11, Vol.13 (1), p.6841-6841, Article 6841

2022

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OP095 - Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

Molecular genetics and metabolism, 2021-04, Vol.132, p.S66-S66

2021

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Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

Molecular genetics and metabolism, 2021-04, Vol.132, p.S66

2021

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Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of human genetics, 2008-03, Vol.53 (3), p.285-285

2008

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Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome

Journal of human genetics, 2018-03, Vol.63 (3), p.391-391

2018

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A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

International Journal of Pediatrics & Neonatal Care, 2015-05, Vol.1 (1)

2015

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Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.305-308

2020

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Epidemiology of Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.1-4

2020

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Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

Journal of genetic syndrome & gene therapy, 2013, Vol.4 (10)

Maria Francesca Bedeschi, Giulia Melloni

2013

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SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Molecular syndromology, 2023, Vol.13 (6), p.543-550

2023

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Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Genes, 2022, Vol.13 (12)

2022

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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

American journal of medical genetics. Part A, 2020, Vol.182 (12), p.2982-2987

2020

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Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

The journal of obstetrics and gynaecology research, 2019, Vol.45 (3), p.705-708

2019

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Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Frontiers in neurology, 2018, Vol.9, p.967-967

2018

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MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Molecular cytogenetics, 2016, Vol.9, p.80-80

2016

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A Genotype First Approach in Currarino Syndrome

International Journal of Pediatrics and Child Health, 2013-04, Vol.1 (1), p.11-14

2013

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Molecular cytogenetics, 2018, Vol.11, p.53-53

2018

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Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Congenital Anomalies, 2016, Vol.56 (4), p.187-189

2016

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Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Congenital anomalies, 2016, Vol.56 (4), p.187-189

2016

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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

A long way to syndromic short stature

Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

Neurological phenotype of Potocki–Lupski syndrome

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

OP095 - Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

Clinical and molecular characterization of patients with Beckwith-Wiedemann spectrum conceived through assisted reproductive technology

Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome

A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Epidemiology of Neurofibromatosis Type 1

Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

A Genotype First Approach in Currarino Syndrome

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

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