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Linkage and candidate gene studies of autism spectrum disorders in European populations

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1013-1019

2010

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A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

American journal of human genetics, 2002-10, Vol.71 (4), p.777-790

2002

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Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Journal of clinical oncology, 2005-07, Vol.23 (21), p.4609-4616

2005

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Analysis of four neuroligin genes as candidates for autism

European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1285-1292

2005

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Identification of a variant associated with adult-type hypolactasia

Nature genetics, 2002-02, Vol.30 (2), p.233-237

2002

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Adenomatous Polyposis Families That Screen APC Mutation–Negative by Conventional Methods Are Genetically Heterogeneous

Journal of clinical oncology, 2005-08, Vol.23 (24), p.5651-5659

2005

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Mutations in the Translated Region of the Lactase Gene ( LCT) Underlie Congenital Lactase Deficiency

American journal of human genetics, 2006-02, Vol.78 (2), p.339-344

2006

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Can primary hypolactasia manifest itself after the age of 20 years? A two-decade follow-up study

Scandinavian journal of gastroenterology, 2008, Vol.43 (9), p.1082-1087

2008

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Defective Intracellular Transport of CLN3 is the Molecular Basis of Batten Disease (JNCL)

Human molecular genetics, 1999-06, Vol.8 (6), p.1091-1098

1999

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Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease

Human molecular genetics, 1998-01, Vol.7 (1), p.85-90

1998

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Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.1020-1020

2010

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Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

Kidney international, 2001-10, Vol.60 (4), p.1225-1232

2001

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The genetic variant of lactase persistence C (−13910) T as a risk factor for type I and II diabetes in the Finnish population

European journal of clinical nutrition, 2004-09, Vol.58 (9), p.1319-1322

2004

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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

American journal of human genetics, 1994-10, Vol.55 (4), p.695-701

1994

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Family-based association study of DYX1C1 variants in autism

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.127-130

2005

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Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Genomics (San Diego, Calif.), 1991, Vol.9 (1), p.170-173

1991

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Infantile neuronal ceroid lipofuscinosis (CLN1): Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

Genomics (San Diego, Calif.), 1991-06, Vol.10 (2), p.333-337

Jaervelae, I

1991

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Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

American journal of human genetics, 1995-03, Vol.56 (3), p.654-662

1995

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Prenatal diagnosis of Batten's disease

The Lancet (British edition), 1996-04, Vol.347 (9007), p.1014-1015

1996

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Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL) : evidence that the late-infantile subtype (Jansky-Bielschowsky disease ; CLN2) is not an allelic form of the juvenile or infantile subtypes

American journal of human genetics, 1993-10, Vol.53 (4), p.931-935

1993

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YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2

Genomics (San Diego, Calif.), 1995-09, Vol.29 (2), p.478-489

1995

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Auditory event related potentials as tools to reveal cognitive late effects in childhood cancer patients

Clinical neurophysiology, 2011-01, Vol.122 (1), p.62-72

2011

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Errors Of Metabolism
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Metabolic Diseases
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Linkage and candidate gene studies of autism spectrum disorders in European populations

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Analysis of four neuroligin genes as candidates for autism

Identification of a variant associated with adult-type hypolactasia

Adenomatous Polyposis Families That Screen APC Mutation–Negative by Conventional Methods Are Genetically Heterogeneous

Mutations in the Translated Region of the Lactase Gene ( LCT) Underlie Congenital Lactase Deficiency

Can primary hypolactasia manifest itself after the age of 20 years? A two-decade follow-up study

Defective Intracellular Transport of CLN3 is the Molecular Basis of Batten Disease (JNCL)

Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease

Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

The genetic variant of lactase persistence C (−13910) T as a risk factor for type I and II diabetes in the Finnish population

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

Family-based association study of DYX1C1 variants in autism

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Infantile neuronal ceroid lipofuscinosis (CLN1): Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

Prenatal diagnosis of Batten's disease

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL) : evidence that the late-infantile subtype (Jansky-Bielschowsky disease ; CLN2) is not an allelic form of the juvenile or infantile subtypes

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2

Auditory event related potentials as tools to reveal cognitive late effects in childhood cancer patients

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