Publications by authors named "Johanna Lundin"

21Publications

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Mol Genet Genomic Med 2019 03 10;7(3):e549. Epub 2019 Jan 10.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418355PMC
March 2019

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

Mutat Res 2018 11 22;812:1-4. Epub 2018 Oct 22.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm and Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2018.10.001DOI Listing
November 2018

Evaluation of the gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Hum Genome Var 2018 29;5:18009. Epub 2018 Mar 29.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1038/hgv.2018.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874392PMC
March 2018

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Oncotarget 2018 Feb 29;9(13):11170-11179. Epub 2018 Jan 29.

Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm SE-17176, Sweden.

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http://dx.doi.org/10.18632/oncotarget.24340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834248PMC
February 2018

- a novel candidate breast cancer susceptibility locus on 6q14.1.

Authors:
Xiang Jiao Christos Aravidis Rajeshwari Marikkannu Johanna Rantala Simone Picelli Tatjana Adamovic Tao Liu Paula Maguire Barbara Kremeyer Liping Luo Susanna von Holst Vinaykumar Kontham Jessada Thutkawkorapin Sara Margolin Quan Du Johanna Lundin Kyriaki Michailidou Manjeet K Bolla Qin Wang Joe Dennis Michael Lush Christine B Ambrosone Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Matthias W Beckmann Carl Blomqvist William Blot Bram Boeckx Stig E Bojesen Bernardo Bonanni Judith S Brand Hiltrud Brauch Hermann Brenner Annegien Broeks Thomas Brüning Barbara Burwinkel Qiuyin Cai Jenny Chang-Claude Fergus J Couch Angela Cox Simon S Cross Sandra L Deming-Halverson Peter Devilee Isabel Dos-Santos-Silva Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Qi Guo Melanie Gündert Christopher A Haiman Emily Hallberg Ute Hamann Patricia Harrington Maartje J Hooning John L Hopper Guanmengqian Huang Anna Jakubowska Michael E Jones Michael J Kerin Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jan Lubinski Arto Mannermaa John W M Martens Alfons Meindl Roger L Milne Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Julian Peto Katri Pylkäs Paolo Radice Valerie Rhenius Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Caroline Seynaeve Mitul Shah Jacques Simard Melissa C Southey Anthony J Swerdlow Thérèse Truong Camilla Wendt Robert Winqvist Wei Zheng Javier Benitez Alison M Dunning Paul D P Pharoah Douglas F Easton Kamila Czene Per Hall Annika Lindblom

Oncotarget 2017 Nov 12;8(61):102769-102782. Epub 2017 Oct 12.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.18632/oncotarget.21800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732689PMC
November 2017

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

Clin Immunol 2017 Mar 14;176:71-76. Epub 2017 Jan 14.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15216616163066
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http://dx.doi.org/10.1016/j.clim.2017.01.006DOI Listing
March 2017

Study on genetic stability in human urothelial cells in vitro.

J Tissue Eng Regen Med 2018 02 3;12(2):e720-e726. Epub 2017 Apr 3.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/term.2354DOI Listing
February 2018

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Hum Mol Genet 2015 Sep 23;24(18):5069-78. Epub 2015 Jun 23.

Department of Women's and Children's Health and Center for Molecular Medicine, Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, SE-17176 Stockholm, Sweden,

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http://dx.doi.org/10.1093/hmg/ddv225DOI Listing
September 2015

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Am J Med Genet A 2014 Feb 5;164A(2):425-31. Epub 2013 Dec 5.

Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36307DOI Listing
February 2014

A case with bladder exstrophy and unbalanced X chromosome rearrangement.

Eur J Pediatr Surg 2014 Aug 25;24(4):353-9. Epub 2013 Jun 25.

Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1349056
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http://dx.doi.org/10.1055/s-0033-1349056DOI Listing
August 2014

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

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http://www.nature.com/articles/ejhg2012306
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http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

Am J Med Genet A 2012 May 11;158A(5):1111-7. Epub 2012 Apr 11.

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.35311
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http://dx.doi.org/10.1002/ajmg.a.35311DOI Listing
May 2012

Chimerism resulting from parthenogenetic activation and dispermic fertilization.

Am J Med Genet A 2010 Sep;152A(9):2277-86

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33594DOI Listing
September 2010

Mutational study of the MAMLD1-gene in hypospadias.

Eur J Med Genet 2010 May-Jun;53(3):122-6. Epub 2010 Mar 25.

Department of Urology, The Second Hospital, Shandong University, Jinan 250033, PR China.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000021
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http://dx.doi.org/10.1016/j.ejmg.2010.03.005DOI Listing
October 2010

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

Eur J Med Genet 2010 Mar-Apr;53(2):61-5. Epub 2010 Jan 4.

Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.11.004DOI Listing
July 2010

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1.

Hum Genet 2008 Sep 27;124(2):155-60. Epub 2008 Jul 27.

Department of Molecular Medicine and Surgery, CMM 02, Karolinska Institutet, Karolinska University Hospital, 171 76, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00439-008-0533-5DOI Listing
September 2008