Publications by authors named "Jaakko Ignatius"

40Publications

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

Authors:
Mehran Kausar Riikka E Mäkitie Sanna Toiviainen-Salo Jaakko Ignatius Mariam Anees Outi Mäkitie

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.

Authors:
Jaana Nevalainen Jaakko Ignatius E-R Savolainen Markku Ryynanen Jouko Jarvenpaa

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

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

Authors:
Valérie Biancalana Norma B Romero Inger Johanne Thuestad Jaakko Ignatius Janne Kataja Maria Gardberg Delphine Héron Edoardo Malfatti Anders Oldfors Jocelyn Laporte

Acta Neuropathol Commun 2018 09 12;6(1):93. Epub 2018 Sep 12.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France.

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September 2018

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Authors:
Richard S Smith Connor J Kenny Vijay Ganesh Ahram Jang Rebeca Borges-Monroy Jennifer N Partlow R Sean Hill Taehwan Shin Allen Y Chen Ryan N Doan Anna-Kaisa Anttonen Jaakko Ignatius Livija Medne Carsten G Bönnemann Jonathan L Hecht Oili Salonen A James Barkovich Annapurna Poduri Martina Wilke Marie Claire Y de Wit Grazia M S Mancini Laszlo Sztriha Kiho Im Dina Amrom Eva Andermann Ritva Paetau Anna-Elina Lehesjoki Christopher A Walsh Maria K Lehtinen

Neuron 2018 09 23;99(5):905-913.e7. Epub 2018 Aug 23.

Department of Pathology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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September 2018

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

Authors:
Laura Määttänen Marja Hietala Jaakko Ignatius Maria Arvio

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

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

Authors:
Eeva Sliz Mari Taipale Maiju Welling Sini Skarp Viivi Alaraudanjoki Jaakko Ignatius Lloyd Ruddock Ritva Nissi Minna Männikkö

PLoS One 2017 14;12(4):e0175474. Epub 2017 Apr 14.

Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.

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April 2017

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

Authors:
Christoffer Löf Konrad Patyra Teemu Kuulasmaa Jagadish Vangipurapu Henriette Undeutsch Holger Jaeschke Tuulia Pajunen Andreina Kero Heiko Krude Heike Biebermann Gunnar Kleinau Peter Kühnen Krista Rantakari Päivi Miettinen Turkka Kirjavainen Juha-Pekka Pursiheimo Taina Mustila Jarmo Jääskeläinen Marja Ojaniemi Jorma Toppari Jaakko Ignatius Markku Laakso Jukka Kero

Thyroid 2016 09 2;26(9):1215-24. Epub 2016 Aug 2.

1 Department of Physiology, Institute of Biomedicine, University of Turku , Turku, Finland .

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September 2016

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

Authors:
Elisa Rahikkala Linda M Forsström Hannaleena Kokkonen Sakari Knuutila Aki Mustonen Jaakko Ignatius

Eur J Med Genet 2013 Jul 22;56(7):389-96. Epub 2013 May 22.

Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland.

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July 2013

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

Authors:
Johanna Syvänen Ilkka Helenius Matti Hero Outi Mäkitie Jaakko Ignatius

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.

Authors:
Serap Turan Jaakko Ignatius Jukka S Moilanen Outi Kuismin Helen Stewart Nicholas P Mann Agnès Linglart Murat Bastepe Harald Jüppner

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

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

Authors:
Tuija Löppönen Aarno Dietz Marja-Leena Väisänen Hannu Valtonen Ari Kosunen Antti Hyvärinen Jaakko Ignatius Heikki Löppönen

Acta Otolaryngol 2012 Aug 5;132(8):862-73. Epub 2012 Jun 5.

Department of Paediatrics, Child Neurology, Kuopio University Hospital, Finland.

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August 2012

False-negative results in routine combined first-trimester screening for down syndrome in Finland.

Authors:
Jaana Marttala Marja Kaijomaa Jenni Ranta Anna Dahlbacka Pentti Nieminen Aydin Tekay Hannaleena Kokkonen Paivi Laitinen Jaakko Ignatius Jarkko Romppanen Seppo Heinonen Ilkka Jarvela Matti Heikkila Ari Yla-Outinen Veli-Matti Ulander Esa Hamalainen Markku Ryynanen

Am J Perinatol 2012 Mar 10;29(3):211-6. Epub 2011 Aug 10.

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

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March 2012

9q22 Deletion--first familial case.

Authors:
Linda Siggberg Maarit Peippo Marjatta Sipponen Taina Miikkulainen Keiko Shimojima Toshiyuki Yamamoto Jaakko Ignatius Sakari Knuutila

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.

Authors:
Linda Siggberg Aki Mustonen Robert Schuit Gajja S Salomons Birthe Roos K Michael Gibson Cornelis Jakobs Jaakko Ignatius Sakari Knuutila

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

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

Authors:
Linda Siggberg Sirpa Ala-Mello Elisa Jaakkola Esa Kuusinen Robert Schuit Jürgen Kohlhase Detlef Böhm Jaakko Ignatius Sakari Knuutila

Am J Med Genet A 2010 Jun;152A(6):1398-410

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

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June 2010

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

Authors:
John F O'Toole Yangjian Liu Erica E Davis Christopher J Westlake Massimo Attanasio Edgar A Otto Dominik Seelow Gudrun Nurnberg Christian Becker Matti Nuutinen Mikko Kärppä Jaakko Ignatius Johanna Uusimaa Salla Pakanen Elisa Jaakkola Lambertus P van den Heuvel Henry Fehrenbach Roger Wiggins Meera Goyal Weibin Zhou Matthias T F Wolf Eric Wise Juliana Helou Susan J Allen Carlos A Murga-Zamalloa Shazia Ashraf Moumita Chaki Saskia Heeringa Gil Chernin Bethan E Hoskins Hassan Chaib Joseph Gleeson Takehiro Kusakabe Takako Suzuki R Elwyn Isaac Lynne M Quarmby Bryan Tennant Hisashi Fujioka Hannu Tuominen Ilmo Hassinen Hellevi Lohi Judith L van Houten Agnes Rotig John A Sayer Boris Rolinski Peter Freisinger Sethu M Madhavan Martina Herzer Florence Madignier Holger Prokisch Peter Nurnberg Peter K Jackson Peter Jackson Hemant Khanna Nicholas Katsanis Friedhelm Hildebrandt

J Clin Invest 2010 Mar 22;120(3):791-802. Epub 2010 Feb 22.

Department of Pediatrics, University of Michigan, Ann Arbor, 48109-5646, USA.

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March 2010

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

Authors:
Johanna Uusimaa Eija Gaily Jaakko Ignatius Anna-Elina Lehesjoki

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.

Authors:
Maarit Peippo Leena Valanne Marja Perhomaa Leena Toivanen Jaakko Ignatius

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.

Authors:
Yrtti Valinen Paivi Laitinen Jenni Ranta Jaakko Ignatius Ilkka Jarvela Markku Ryynänen

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.

Authors:
Anders Paetau Heli Honkala Riitta Salonen Jaakko Ignatius Marjo Kestilä Riitta Herva

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

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

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August 2008