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Clinical utility gene card for: Angelman Syndrome

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.3-3

2015

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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

American journal of human genetics, 2003-06, Vol.72 (6), p.1401-1411

2003

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Distribution, type, and origin of Parkin mutations: Review and case studies

Movement disorders, 2004-10, Vol.19 (10), p.1146-1157

2004

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Results from a Genome-wide Search for Predisposing Genes in Sarcoidosis

American journal of respiratory and critical care medicine, 2001-09, Vol.164 (5), p.840-846

2001

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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

Human mutation, 2004-02, Vol.23 (2), p.106-110

2004

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

BMC medical genetics, 2005-07, Vol.6 (1), p.27-27

2005

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Co-occurrence of restless legs syndrome and Parkin mutations in two families

Movement disorders, 2006-02, Vol.21 (2), p.258-263

2006

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Nachruf Gebhard Flatz (1925–2019)

Medizinische Genetik, 2020-08, Vol.32 (1), p.79-81

2020

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Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Movement disorders, 2005-08, Vol.20 (8), p.1060-1062

2005

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Sarcoidosis is associated with a truncating splice site mutation in BTNL2

Nature genetics, 2005-04, Vol.37 (4), p.357-364

2005

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Aprataxin mutations are a rare cause of early onset ataxia in Germany

Journal of neurology, 2004-05, Vol.251 (5), p.591-594

2004

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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 ( CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

American journal of human genetics, 2004-12, Vol.75 (6), p.1149-1154

2004

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Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

Journal of medical genetics, 2010-06, Vol.47 (6), p.371-376

2010

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A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS

Human mutation, 2001-02, Vol.17 (2), p.131-140

2001

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Clinical utility gene card for: Prader-Willi Syndrome

European journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1153-1153

2014

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Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

JAMA neurology, 2017-07, Vol.74 (7), p.806

2017

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Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

Annals of neurology, 2002-08, Vol.52 (2), p.257-258

2002

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Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, )

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1071-1071

2010

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Exome sequencing in a family with restless legs syndrome

Movement disorders, 2012-11, Vol.27 (13), p.1686-1689

2012

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Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity

Prenatal diagnosis, 2012-02, Vol.32 (2), p.173-179

2012

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Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

Human mutation, 2002-05, Vol.19 (5), p.526-535

2002

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Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

American journal of human genetics, 2002-12, Vol.71 (6), p.1303-1311

2002

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Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease

Movement disorders, 2006-09, Vol.21 (9), p.1506-1510

2006

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Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.118-120

2005

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Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

Movement disorders, 2006-09, Vol.21 (9), p.1526-1530

2006

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Clinical utility gene card for: Angelman Syndrome

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Distribution, type, and origin of Parkin mutations: Review and case studies

Results from a Genome-wide Search for Predisposing Genes in Sarcoidosis

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

Co-occurrence of restless legs syndrome and Parkin mutations in two families

Nachruf Gebhard Flatz (1925–2019)

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Sarcoidosis is associated with a truncating splice site mutation in BTNL2

Aprataxin mutations are a rare cause of early onset ataxia in Germany

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 ( CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS

Clinical utility gene card for: Prader-Willi Syndrome

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, )

Exome sequencing in a family with restless legs syndrome

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?

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