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Recurrent upper respiratory tract infections in early childhood: a newly defined clinical condition

Italian journal of pediatrics, 2024-02, Vol.50 (1), p.30-30, Article 30

2024

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Reciprocal translocations : a trap for cytogenetists?

Human genetics, 2005-10, Vol.117 (6), p.571-582

2005

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Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire

Human molecular genetics, 1994-02, Vol.3 (2), p.229-235

1994

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Human piebaldism: six novel mutations of the proto-oncogene KIT

Human mutation, 2002-09, Vol.20 (3), p.234-234

2002

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Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

Epilepsia (Copenhagen), 1998-09, Vol.39 (9), p.942-951

1998

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The digital child: A cross‐sectional survey study on the access to electronic devices in paediatrics

Acta Paediatrica, 2023-08, Vol.112 (8), p.1792-1803

2023

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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

Human mutation, 2001-08, Vol.18 (2), p.109-119

2001

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Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance

Brain & development (Tokyo. 1979), 1998-03, Vol.20 (2), p.116-118

1998

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Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures

Brain (London, England : 1878), 2001-12, Vol.124 (12), p.2459-2475

2001

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Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Seizure (London, England), 2001-10, Vol.10 (7), p.532-547

2001

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Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures. A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2

Brain (London, England : 1878), 2001-12, Vol.124 (Pt 12), p.2459-2475

2001

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Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.63-70

2000

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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Human molecular genetics, 1997-02, Vol.6 (2), p.157-164

1997

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Isolation of a Miller-Dicker lissencephaly gene containing G protein β-subunit-like repeats

Nature (London), 1993-08, Vol.364 (6439), p.717-721

1993

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Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats

Nature (London), 1993-08, Vol.364 (6439), p.717-721

1993

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A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

Annals of neurology, 2000-01, Vol.47 (1), p.117-121

2000

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Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Annals of neurology, 1999-03, Vol.45 (3), p.344-352

1999

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Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms

Paediatric drugs, 2003, Vol.5 (10), p.647-661

2003

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420

2001

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Epilepsy and genetic malformations of the cerebral cortex

American journal of medical genetics, 2001-06, Vol.106 (2), p.160-173

2001

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A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3

Human molecular genetics, 1997-02, Vol.6 (2), p.147-155

1997

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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Human mutation, 2004-06, Vol.23 (6), p.576-581

2004

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Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

Annals of neurology, 2003-07, Vol.54 (1), p.30-37

2003

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Nature (London), 1991-10, Vol.353 (6344), p.529-536

1991

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Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Seizure (London, England), 2002-04, Vol.11 Suppl A, p.532

2002

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Recurrent upper respiratory tract infections in early childhood: a newly defined clinical condition

Reciprocal translocations : a trap for cytogenetists?

Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire

Human piebaldism: six novel mutations of the proto-oncogene KIT

Chromosome 20 Ring: A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

The digital child: A cross‐sectional survey study on the access to electronic devices in paediatrics

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures. A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Isolation of a Miller-Dicker lissencephaly gene containing G protein β-subunit-like repeats

Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats

A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Epilepsy and genetic malformations of the cerebral cortex

A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

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