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Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy

BMC neurology, 2024-04, Vol.24 (1), p.145-145, Article 145

2024

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Nature communications, 2015-01, Vol.6 (1), p.5614-5614, Article 5614

2015

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Human mutation, 2010-02, Vol.31 (2), p.113-126

2010

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Journal of medical genetics, 2006-09, Vol.43 (9), p.729-734

2006

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Investigation of global developmental delay

Archives of Disease in Childhood, 2006-08, Vol.91 (8), p.701-705

2006

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Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

Journal of medical genetics, 2008-09, Vol.45 (9), p.564-571

2008

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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

Clinical genetics, 2013-05, Vol.83 (5), p.467-471

2013

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190

2008

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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Neuropediatrics, 2004-02, Vol.35 (1), p.10-19

2004

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A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus

Clinical genetics, 2013-01, Vol.83 (1), p.44-52

2013

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Brain (London, England : 1878), 1999-05, Vol.122 (5), p.817-825

1999

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Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

American journal of human genetics, 1998-10, Vol.63 (4), p.1108-1116

1998

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The phenotype of survivors of campomelic dysplasia

Journal of medical genetics, 2002-08, Vol.39 (8), p.597-602

2002

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Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Clinical genetics, 2011-07, Vol.80 (1), p.31-38

2011

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Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. pound65.50 HB, pound31.00 PB. Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0

Journal of medical genetics, 2002-10, Vol.39 (10), p.783-783

Tolmie, J.

2002

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Towards earlier diagnosis of 22q11 deletions

Archives of disease in childhood, 1999-12, Vol.81 (6), p.513-514

1999

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Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: Akin to the new MECP2 duplication syndrome?

European journal of paediatric neurology, 2010-05, Vol.14 (3), p.267-269

2010

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Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

American journal of human genetics, 2000-07, Vol.67 (1), p.213-221

2000

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17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

Cytogenetic and genome research, 2009-01, Vol.127 (1), p.61-66

2009

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Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

Journal of medical genetics, 2001-07, Vol.38 (7), p.466-469

2001

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Cataplexy in the Prader–Willi syndrome

Archives of disease in childhood, 2002-08, Vol.87 (2), p.170-170

2002

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Nature genetics, 2004-11, Vol.36 (11), p.1159-1161

2004

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The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)

Journal of medical genetics, 1995-11, Vol.32 (11), p.881-884

1995

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Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Investigation of global developmental delay

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

The phenotype of survivors of campomelic dysplasia

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. pound65.50 HB, pound31.00 PB. Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0

Towards earlier diagnosis of 22q11 deletions

Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: Akin to the new MECP2 duplication syndrome?

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

Cataplexy in the Prader–Willi syndrome

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)

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