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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Molecular syndromology, 2016-09, Vol.7 (4), p.210-219

2016

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A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.84-90

2012

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Association between genes on chromosome 19p13.2 and panic disorder

Psychiatric genetics, 2016-12, Vol.26 (6), p.287-292

2016

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Are TMEM genes potential candidate genes for panic disorder?

Psychiatric genetics, 2014-02, Vol.24 (1), p.37-41

2014

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Recent advances in the molecular genetics of epilepsy

Journal of Medical Genetics, 2013-05, Vol.50 (5), p.271-279

2013

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A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

Nature genetics, 2008-02, Vol.40 (2), p.249-254

2008

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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

American journal of human genetics, 2012-06, Vol.90 (6), p.1102-1107

2012

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Human molecular genetics, 2013-04, Vol.22 (7), p.1417-1423

2013

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Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

American journal of human genetics, 2008-10, Vol.83 (4), p.468-478

2008

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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Human molecular genetics, 2015-08, Vol.24 (16), p.4483-4490

2015

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Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

American journal of human genetics, 2009-08, Vol.85 (2), p.248-253

2009

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The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Trends in genetics, 2000-11, Vol.16 (11), p.500-505

2000

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A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

American journal of human genetics, 2010-04, Vol.86 (4), p.596-603

2010

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Alpha-cardiac actin mutations produce atrial septal defects

Human molecular genetics, 2008-01, Vol.17 (2), p.256-265

2008

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Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993

American journal of human genetics, 1999-08, Vol.65 (2), p.474-482

1999

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A novel splice site mutation in EYA4 causes DFNA10 hearing loss

American journal of medical genetics. Part A, 2007-07, Vol.143A (14), p.1599-1604

2007

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Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome

American journal of human genetics, 1998-12, Vol.63 (6), p.1594-1597

Dahl, Hans-Henrik M.

1998

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Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

European journal of medical genetics, 2024-06, Vol.69, p.104937, Article 104937

2024

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High frequency hearing loss correlated with mutations in the GJB2 gene

Human genetics, 2000-04, Vol.106 (4), p.399-405

2000

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Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes

American journal of human genetics, 1997-06, Vol.60 (6), p.1495-1501

1997

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Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis

Genetic testing and molecular biomarkers, 2011-05, Vol.15 (5), p.365-368

2011

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Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4

Human molecular genetics, 2013-08, Vol.22 (16), p.3373-3380

2013

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Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Nature genetics, 2005-02, Vol.37 (2), p.125-128

2005

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Nature genetics, 1999-02, Vol.21 (2), p.169-175

1999

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene

Association between genes on chromosome 19p13.2 and panic disorder

Are TMEM genes potential candidate genes for panic disorder?

Recent advances in the molecular genetics of epilepsy

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Alpha-cardiac actin mutations produce atrial septal defects

Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants

High frequency hearing loss correlated with mutations in the GJB2 gene

Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis

Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

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