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Male patients affected by mosaic PCDH19 mutations: five new cases

Neurogenetics, 2017-07, Vol.18 (3), p.147-153

2017

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Nature communications, 2017-10, Vol.8 (1), p.1052-12, Article 1052

2017

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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.426-428

2009

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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Neurogenetics, 2009-10, Vol.10 (4), p.333-336

2009

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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Journal of medical genetics, 2006-06, Vol.43 (6), p.490-495

2006

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Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

Neurology, 2011-03, Vol.76 (9), p.844-846

2011

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NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.725-733

2004

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Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

American journal of neuroradiology : AJNR, 2023-03, Vol.44 (3), p.334-340

2023

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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Clinical genetics, 2015-03, Vol.87 (3), p.252-258

2015

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Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

Neurogenetics, 2005-12, Vol.6 (4), p.195-199

2005

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Journal of medical genetics, 2008-11, Vol.45 (11), p.710-720

2008

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Clinical features and X-inactivation in females heterozygous for creatine transporter defect

Clinical genetics, 2011-03, Vol.79 (3), p.264-272

2011

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Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

Neurogenetics, 2006-11, Vol.7 (4), p.259-263

2006

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Lysosomal transport disorders

Journal of inherited metabolic disease, 2000-05, Vol.23 (3), p.278-292

2000

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Lung disease in FLNA mutation: Confirmatory report

European journal of medical genetics, 2011-05, Vol.54 (3), p.299-300

2011

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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Molecular syndromology, 2010-09, Vol.1 (3), p.113-120

2010

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Absence epilepsy and periventricular nodular heterotopia

Seizure (London, England), 2010-09, Vol.19 (7), p.450-452

2010

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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

American journal of medical genetics, 2005-01, Vol.132A (3), p.288-295

2005

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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human molecular genetics, 2023-10, Vol.32 (20), p.2981-2995

2023

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An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

Clinical genetics, 2002-06, Vol.61 (6), p.443-447

2002

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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

Journal of medical genetics, 1999-06, Vol.36 (6), p.471-474

1999

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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Nature genetics, 1999-12, Vol.23 (4), p.462-465

1999

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COL4A1 Mutation: Expansion of the Phenotype

Pediatric research, 2011-11, Vol.70 (Suppl 5), p.181-181

2011

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Sudden infant death and lysinuric protein intolerance

European journal of pediatrics, 1996-03, Vol.155 (3), p.256-257

1996

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Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

Molecular genetics and metabolism, 2006-02, Vol.87 (2), p.102-106

2006

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Male patients affected by mosaic PCDH19 mutations: five new cases

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

Lysosomal transport disorders

Lung disease in FLNA mutation: Confirmatory report

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Absence epilepsy and periventricular nodular heterotopia

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

COL4A1 Mutation: Expansion of the Phenotype

Sudden infant death and lysinuric protein intolerance

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

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