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Classification of European mtDNAs From an Analysis of Three European Populations

Genetics (Austin), 1996-12, Vol.144 (4), p.1835-1850

1996

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Leber hereditary optic neuropathy : clinical and molecular genetic findings

Neurogenetics, 2001-07, Vol.3 (3), p.119-125

HUOPONEN, Kirsi

2001

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Migration Waves to the Baltic Sea Region

Annals of human genetics, 2008-05, Vol.72 (3), p.337-348

2008

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Population Structure in Contemporary Sweden—A Y‐Chromosomal and Mitochondrial DNA Analysis

Annals of human genetics, 2009-01, Vol.73 (1), p.61-73

2009

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Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, with Special Reference to mtDNA Mutations

Ophthalmology (Rochester, Minn.), 1996-03, Vol.103 (3), p.504-514

1996

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Nutrient intake in lysinuric protein intolerance

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.716-721

2007

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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

Journal of neurology, neurosurgery and psychiatry, 1995-08, Vol.59 (2), p.160-164

1995

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Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiation

Human immunology, 2001-09, Vol.62 (9), p.954-969

2001

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New methods for molecular diagnosis and demonstration of the (CCTG) n mutation in myotonic dystrophy type 2 (DM2)

Neuromuscular disorders : NMD, 2004-04, Vol.14 (4), p.274-283

2004

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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

American journal of human genetics, 2007-08, Vol.81 (2), p.228-233

2007

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A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

American journal of human genetics, 1991-06, Vol.48 (6), p.1147-1153

1991

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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

American journal of human genetics, 2005-12, Vol.77 (6), p.1086-1091

2005

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Regional differences among the Finns: A Y-chromosomal perspective

Gene, 2006-07, Vol.376 (2), p.207-215

2006

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Tandem repeats and length variation in the mitochondrial DNA control region of Epirrita autumnata (Lepidoptera: Geometridae)

Genome, 2002-10, Vol.45 (5), p.855

2002

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Pre-excitation syndrome in Leber's hereditary optic neuropathy

The Lancet (British edition), 1994-09, Vol.344 (8926), p.857-858

1994

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Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

Annals of human genetics, 2005-01, Vol.69 (1), p.67-89

2005

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A Signal, from Human mtDNA, of Postglacial Recolonization in Europe

American journal of human genetics, 2001-10, Vol.69 (4), p.844-852

2001

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Identification of SLC7A7 , encoding y + LAT-1, as the lysinuric protein intolerance gene

Nature genetics, 1999-03, Vol.21 (3), p.293-296

1999

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Genetics in medicine, 2007-10, Vol.9 (10), p.690-694

2007

Volltextzugriff (PDF)

mtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations

American journal of human genetics, 2000-04, Vol.66 (4), p.1362-1383

2000

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Hazards associated with pregnancies and deliveries in lysinuric protein intolerance

Metabolism, clinical and experimental, 2006-02, Vol.55 (2), p.224-231

2006

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mtDNA Haplogroups and Frequency Patterns in Europe

American journal of human genetics, 2000-03, Vol.66 (3), p.1173-1177

2000

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Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

American journal of human genetics, 1994-08, Vol.55 (2), p.410-410

1994

Volltextzugriff (PDF)

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

Journal of applied genetics, 2007-01, Vol.48 (3), p.277-280

2007

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Genomic Analysis of the 55 kDa Subunit of DNA Polymerase e in Human Intracranial Neoplasms

Cancer genomics & proteomics, 2010-06, Vol.7 (3), p.143-146

2010

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Classification of European mtDNAs From an Analysis of Three European Populations

Leber hereditary optic neuropathy : clinical and molecular genetic findings

Migration Waves to the Baltic Sea Region

Population Structure in Contemporary Sweden—A Y‐Chromosomal and Mitochondrial DNA Analysis

Ophthalmologic Findings in Leber Hereditary Optic Neuropathy, with Special Reference to mtDNA Mutations

Nutrient intake in lysinuric protein intolerance

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiation

New methods for molecular diagnosis and demonstration of the (CCTG) n mutation in myotonic dystrophy type 2 (DM2)

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Regional differences among the Finns: A Y-chromosomal perspective

Tandem repeats and length variation in the mitochondrial DNA control region of Epirrita autumnata (Lepidoptera: Geometridae)

Pre-excitation syndrome in Leber's hereditary optic neuropathy

Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

A Signal, from Human mtDNA, of Postglacial Recolonization in Europe

Identification of SLC7A7 , encoding y + LAT-1, as the lysinuric protein intolerance gene

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

mtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations

Hazards associated with pregnancies and deliveries in lysinuric protein intolerance

mtDNA Haplogroups and Frequency Patterns in Europe

Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

Genomic Analysis of the 55 kDa Subunit of DNA Polymerase e in Human Intracranial Neoplasms

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