Jaakko Ignatius

Turku, Finland

Last Updated: 09/26/2026

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Found 12 publications

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

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

Journal: Acta neuropathologica communications

Published: August 14, 2018

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

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

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: May 09, 2018

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

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

Journal: European journal of medical genetics

Published: March 06, 2018

A 69-year-old woman with Coffin-Siris syndrome.

A 69-year-old woman with Coffin-Siris syndrome.

Journal: American journal of medical genetics. Part A

Published: January 26, 2018

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

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

Journal: Neuron

Published: December 28, 2017

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

Journal: Clinical genetics

Published: April 24, 2017

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

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

Journal: PloS one

Published: November 23, 2016

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

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

Journal: Thyroid : official journal of the American Thyroid Association

Published: July 05, 2016

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

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

Journal: American journal of medical genetics. Part A

Published: November 29, 2012

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.

Journal: European journal of medical genetics

Published: September 26, 2012

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

Journal: Acta oto-laryngologica

Published: June 07, 2012

Pitt-Hopkins Syndrome.

Pitt-Hopkins Syndrome.

Journal: Molecular syndromology

Published: June 07, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026