Publications by authors named "Jaakko Ignatius"

40Publications

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

Eur J Med Genet 2019 Nov 10;62(11):103573. Epub 2018 Nov 10.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

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November 2019

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

Eur J Obstet Gynecol Reprod Biol 2018 Nov 11;230:32-35. Epub 2018 Sep 11.

Obstetrics and Gynecology, PEDEGO Research Unit, Medical Research Centre, Oulu University Hospital, Oulu, Finland.

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November 2018

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

Am J Med Genet A 2018 08 28;176(8):1764-1767. Epub 2018 Jul 28.

Departments of Child Neurology, University of Turku, Finland.

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August 2018

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

Am J Med Genet A 2013 Jun 23;161A(6):1491-4. Epub 2013 Apr 23.

Department of Paediatric Orthopaedic Surgery, Turku University Central Hospital, Turku, Finland.

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June 2013

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

J Clin Endocrinol Metab 2012 Dec 18;97(12):E2314-9. Epub 2012 Oct 18.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.

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December 2012

9q22 Deletion--first familial case.

Orphanet J Rare Dis 2011 Jun 22;6:45. Epub 2011 Jun 22.

Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland.

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June 2011

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity.

Am J Med Genet B Neuropsychiatr Genet 2011 Jun 22;156B(4):448-53. Epub 2011 Mar 22.

Department of Pathology, Haartman Institute, University of Helsinki, Finland.

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June 2011

[Current prospects of genetics in epilepsy diagnostics--when and what?].

Duodecim 2009 ;125(22):2521-30

lasten ja nuorten klinikka, lastenneurologian yksikkö ja Kliinisen tutkimuksen keskus, Oulun yliopistollinen sairaala.

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March 2010

Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.

Am J Med Genet A 2009 Nov;149A(11):2593-601

Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland.

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November 2009

Effect of a new marker, ADAM12, on Down risk figures in first trimester screening.

J Matern Fetal Neonatal Med 2009 Jul;22(7):602-7

Department of Obstetrics and Gynecology, Oulu University Hospital, Finland.

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July 2009

Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.

J Neuropathol Exp Neurol 2008 Aug;67(8):750-62

Department of Pathology, University of Helsinki, Helsinki, Finland.

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August 2008