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Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

Frontiers in neurology, 2020-12, Vol.11, p.593446-593446

2020

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

Neurogenetics, 2022-01, Vol.23 (1), p.27-35

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

Frontiers in neurology, 2018-11, Vol.9, p.967

2018

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Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?

Pediatric neurology, 2014-04, Vol.50 (4), p.427-430

2014

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Electroclinical phenotype in Rubinstein–Taybi syndrome

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.563-570

2016

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Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

Neurogenetics, 2023-07, Vol.24 (3), p.181-188

2023

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Nature genetics, 2006-05, Vol.38 (5), p.528-530

2006

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A multidisciplinary approach in neurofibromatosis 1

Lancet neurology, 2015, Vol.14 (1), p.29-30

2015

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Treatment of Neurofibromatosis Type 1

Current treatment options in neurology, 2015-06, Vol.17 (6), p.355-355, Article 26

2015

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Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome

Seizure (London, England), 2015-11, Vol.32, p.49-51

2015

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Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Cerebellum (London, England), 2019-10, Vol.18 (5), p.972-975

2019

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Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1268-1272

2009

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Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2532-2537

2009

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Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.426-432

2008

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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2221-2226

2008

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Coeliac disease and cornelia de Lange Syndrome: lack of association

Acta Paediatrica, 2007-10, Vol.96 (10), p.1518-1520

2007

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Another Patient With MECP2 Mutation Without Classic Rett Syndrome Phenotype

Pediatric neurology, 2005-05, Vol.32 (5), p.355-357

2005

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Anomalies of the kidney and urinary tract are common in de Lange syndrome

American journal of medical genetics, 2005-02, Vol.132A (4), p.395-397

2005

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Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis

American journal of medical genetics, 2005-01, Vol.132A (2), p.189-190

2005

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Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

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

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

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

Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?

Electroclinical phenotype in Rubinstein–Taybi syndrome

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

A multidisciplinary approach in neurofibromatosis 1

Treatment of Neurofibromatosis Type 1

Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Analysis of congenital heart defects in 87 consecutive patients with Brachmann‐de Lange syndrome

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

Coeliac disease and cornelia de Lange Syndrome: lack of association

Another Patient With MECP2 Mutation Without Classic Rett Syndrome Phenotype

Anomalies of the kidney and urinary tract are common in de Lange syndrome

Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio‐ulnar synostosis

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