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Intra-individual change over time in DNA methylation with familial clustering

JAMA : the journal of the American Medical Association, 2008-06, Vol.299 (24), p.2877

2008

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Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Annals of neurology, 2004-06, Vol.55 (6), p.884-887

2004

Volltextzugriff (PDF)

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

Nature genetics, 1998-01, Vol.18 (1), p.25-29

1998

Volltextzugriff (PDF)

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3137-3147

2012

Volltextzugriff (PDF)

Exome analysis of a family with pleiotropic congenital heart disease

Circulation. Cardiovascular genetics, 2012-04, Vol.5 (2), p.175

2012

Volltextzugriff (PDF)

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Nature genetics, 1998-01, Vol.18 (1), p.53-55

1998

Volltextzugriff (PDF)

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

American journal of human genetics, 1996-08, Vol.59 (2), p.392-399

1996

Volltextzugriff (PDF)

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2975-2984

2015

Volltextzugriff (PDF)

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

The Journal of clinical investigation, 2005-12, Vol.115 (12), p.3506-3516

2005

Volltextzugriff (PDF)

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

American journal of human genetics, 1998-02, Vol.62 (2), p.325-333

1998

Volltextzugriff (PDF)

AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

American journal of hypertension, 2010-08, Vol.23 (8), p.917-923

2010

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Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

Journal of medical genetics, 2010-10, Vol.47 (10), p.692-699

2010

Volltextzugriff (PDF)

Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study

Arteriosclerosis, thrombosis, and vascular biology, 2000-10, Vol.20 (10), p.2275

2000

Volltextzugriff (PDF)

A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24

Annals of neurology, 1999-10, Vol.46 (4), p.671-678

1999

Volltextzugriff (PDF)

Linkage analysis of Tourette syndrome in a large utah pedigree

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-03, Vol.153B (2), p.656-662

2010

Volltextzugriff (PDF)

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

American journal of human genetics, 2007-02, Vol.80 (2), p.265-272

Anon

2007

Volltextzugriff (PDF)

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Cell, 1994-06, Vol.77 (6), p.863-868

1994

Volltextzugriff (PDF)

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred

Thrombosis and haemostasis, 2001-01, Vol.85 (1), p.82

2001

Volltextzugriff (PDF)

Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample

Neurology, 2008-04, Vol.70 (16 Pt 2), p.1495

2008

Volltextzugriff (PDF)

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

Neurology, 2000-07, Vol.55 (2), p.224

2000

Volltextzugriff (PDF)

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

American journal of human genetics, 1993-07, Vol.53 (1), p.193-200

1993

Volltextzugriff (PDF)

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Cell, 1990-06, Vol.61 (5), p.863-870

1990

Volltextzugriff (PDF)

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Nature genetics, 1995-05, Vol.10 (1), p.89-93

1995

Volltextzugriff (PDF)

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12

American journal of medical genetics. Part A, 2006-11, Vol.140A (21), p.2368-2373

2006

Volltextzugriff (PDF)

Hereditary hyperparathyroidism-jaw tumor syndrome : the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

American journal of human genetics, 1995-04, Vol.56 (4), p.944-950

1995

Volltextzugriff (PDF)

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Intra-individual change over time in DNA methylation with familial clustering

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

A novel potassium channel gene, KCNQ2 , is mutated in an inherited epilepsy of newborns

A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

Exome analysis of a family with pleiotropic congenital heart disease

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4) : Clinical description and genetic localization to chromosome 16q22.1

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

AGT Genetic Variation, Plasma AGT, and Blood Pressure: An Analysis of the Utah Genetic Reference Project Pedigrees

Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer

Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study

A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24

Linkage analysis of Tourette syndrome in a large utah pedigree

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Genetic screening of candidate genes for a prothrombotic interaction with type I protein C deficiency in a large kindred

Lack of association between SLITRK1var321 and Tourette syndrome in a large family-based sample

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12

Hereditary hyperparathyroidism-jaw tumor syndrome : the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31

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