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TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway

PloS one, 2017-04, Vol.12 (4), p.e0175474-e0175474

2017

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453

2005

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Nature genetics, 2008-02, Vol.40 (2), p.155-157

2008

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Genome Research, 2008-06, Vol.18 (6), p.847-858

2008

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Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Acta neuropathologica communications, 2018-09, Vol.6 (1), p.93-93, Article 93

2018

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Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

American journal of human genetics, 1997-07, Vol.61 (1), p.40-50

1997

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Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland-An epidemiological study

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1834-1839

2006

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PAK3 related mental disability: Further characterization of the phenotype

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2406-2416

2007

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9q22 Deletion--first familial case

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.45-45

2011

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A 69‐year‐old woman with Coffin–Siris syndrome

American journal of medical genetics. Part A, 2018-08, Vol.176 (8), p.1764-1767

2018

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Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

Thyroid (New York, N.Y.), 2016-09, Vol.26 (9), p.1215

2016

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Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

American journal of human genetics, 1997-09, Vol.61 (3), p.529-538

1997

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Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

European journal of medical genetics, 2019-11, Vol.62 (11), p.103573-103573, Article 103573

2019

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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

The Journal of clinical investigation, 2010-03, Vol.120 (3), p.791-802

2010

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Placenta-mediated pregnancy complications are not associated with fetal or paternal factor V Leiden mutation

European journal of obstetrics & gynecology and reproductive biology, 2018-11, Vol.230, p.32-35

2018

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Dissecting the epidemiology of a trinucleotide repeat disease: example of FRDA in Finland

Human genetics, 2002-01, Vol.110 (1), p.36-40

2002

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Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

American journal of human genetics, 1998-08, Vol.63 (2), p.506-516

1998

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Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

European journal of human genetics : EJHG, 1999-09, Vol.7 (6), p.625-632

1999

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De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

The journal of clinical endocrinology and metabolism, 2012-12, Vol.97 (12), p.E2314-E2319

2012

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Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

Human molecular genetics, 1994-08, Vol.3 (8), p.1345-1354

1994

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Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1491-1494

2013

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Hydrolethalus Syndrome: Neuropathology of 21 Cases Confirmed by HYLS1 Gene Mutation Analysis

Journal of neuropathology and experimental neurology, 2008-08, Vol.67 (8), p.750-762

2008

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Consanguineous marriages in Finland and their implication for genetic disease

Finnish yearbook of population research, 1995-01, Vol.32, p.45-53

Ignatius, Jaakko

1995

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Array CGH in molecular diagnosis of mental retardation-A study of 150 Finnish patients

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1398-1410

2010

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TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland-An epidemiological study

PAK3 related mental disability: Further characterization of the phenotype

9q22 Deletion--first familial case

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

A 69‐year‐old woman with Coffin–Siris syndrome

Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Placenta-mediated pregnancy complications are not associated with fetal or paternal factor V Leiden mutation

Dissecting the epidemiology of a trinucleotide repeat disease: example of FRDA in Finland

Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

Hydrolethalus Syndrome: Neuropathology of 21 Cases Confirmed by HYLS1 Gene Mutation Analysis

Consanguineous marriages in Finland and their implication for genetic disease

Array CGH in molecular diagnosis of mental retardation-A study of 150 Finnish patients

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