Publications by authors named "Margit Nõukas"

14Publications

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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November 2019

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Authors:
Aurélien Macé Marcus A Tuke Patrick Deelen Kati Kristiansson Hannele Mattsson Margit Nõukas Yadav Sapkota Ursula Schick Eleonora Porcu Sina Rüeger Aaron F McDaid David Porteous Thomas W Winkler Erika Salvi Nick Shrine Xueping Liu Wei Q Ang Weihua Zhang Mary F Feitosa Cristina Venturini Peter J van der Most Anders Rosengren Andrew R Wood Robin N Beaumont Samuel E Jones Katherine S Ruth Hanieh Yaghootkar Jessica Tyrrell Aki S Havulinna Harmen Boers Reedik Mägi Jennifer Kriebel Martina Müller-Nurasyid Markus Perola Markku Nieminen Marja-Liisa Lokki Mika Kähönen Jorma S Viikari Frank Geller Jari Lahti Aarno Palotie Päivikki Koponen Annamari Lundqvist Harri Rissanen Erwin P Bottinger Saima Afaq Mary K Wojczynski Petra Lenzini Ilja M Nolte Thomas Sparsø Nicole Schupf Kaare Christensen Thomas T Perls Anne B Newman Thomas Werge Harold Snieder Timothy D Spector John C Chambers Seppo Koskinen Mads Melbye Olli T Raitakari Terho Lehtimäki Martin D Tobin Louise V Wain Juha Sinisalo Annette Peters Thomas Meitinger Nicholas G Martin Naomi R Wray Grant W Montgomery Sarah E Medland Morris A Swertz Erkki Vartiainen Katja Borodulin Satu Männistö Anna Murray Murielle Bochud Sébastien Jacquemont Fernando Rivadeneira Thomas F Hansen Albertine J Oldehinkel Massimo Mangino Michael A Province Panos Deloukas Jaspal S Kooner Rachel M Freathy Craig Pennell Bjarke Feenstra David P Strachan Guillaume Lettre Joel Hirschhorn Daniele Cusi Iris M Heid Caroline Hayward Katrin Männik Jacques S Beckmann Ruth J F Loos Dale R Nyholt Andres Metspalu Johan G Eriksson Michael N Weedon Veikko Salomaa Lude Franke Alexandre Reymond Timothy M Frayling Zoltán Kutalik

Nat Commun 2017 09 29;8(1):744. Epub 2017 Sep 29.

Institute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.

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September 2017

C14orf132 gene is possibly related to extremely low birth weight.

BMC Genet 2016 Sep 22;17(1):132. Epub 2016 Sep 22.

Department of Pathophysiology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

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September 2016

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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March 2016

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.

Mol Syndromol 2015 Sep 15;6(3):135-40. Epub 2015 Aug 15.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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September 2015

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Eur J Hum Genet 2014 Nov 26;22(11):1327-9. Epub 2014 Feb 26.

1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] United Laboratories, Department of Genetics, Tartu University Hospital, Tartu, Estonia.

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November 2014