Ann Nordgren

Ann Nordgren

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Ann Nordgren

Publications by authors named "Ann Nordgren"

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Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study.

Clin Epidemiol 2019 3;11:793-800. Epub 2019 Sep 3.

Institute of Environmental Medicine, Unit of Epidemiology, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.2147/CLEP.S216634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732901PMC
September 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Clin Genet 2019 Aug 9;96(2):118-125. Epub 2019 May 9.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13543
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http://dx.doi.org/10.1111/cge.13543DOI Listing
August 2019

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

Stem Cell Res 2019 Aug 27;39:101518. Epub 2019 Jul 27.

Uppsala University, Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101518DOI Listing
August 2019

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Br J Haematol 2019 Apr 13;185(2):354-357. Epub 2018 Jul 13.

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

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http://dx.doi.org/10.1111/bjh.15494DOI Listing
April 2019

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

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR.

Clin Chem 2019 Feb 5;65(2):345-347. Epub 2018 Dec 5.

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

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http://dx.doi.org/10.1373/clinchem.2018.293548DOI Listing
February 2019

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Mol Autism 2018 8;9. Epub 2018 Jan 8.

NevSom, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway.

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https://molecularautism.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s13229-017-0184-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759230PMC
October 2018

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Hum Mutat 2018 10 22;39(10):1456-1467. Epub 2018 Aug 22.

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

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http://dx.doi.org/10.1002/humu.23605DOI Listing
October 2018

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.

Adv Exp Med Biol 2017 ;1031:39-54

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176, Stockholm, Sweden.

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http://dx.doi.org/10.1007/978-3-319-67144-4_3DOI Listing
June 2018

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Twin Res Hum Genet 2018 02 8;21(1):1-11. Epub 2018 Jan 8.

Center of Neurodevelopmental Disorders (KIND),Department of Women's and Children's Health,Karolinska Institutet,Solna,Sweden.

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http://dx.doi.org/10.1017/thg.2017.69DOI Listing
February 2018

Minor physical anomalies in neurodevelopmental disorders: a twin study.

Child Adolesc Psychiatry Ment Health 2017 28;11:57. Epub 2017 Nov 28.

Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet & Child and Adolescent Psychiatry, Center for Psychiatry Research, Stockholm County Council, Gävlegatan 22B, 113 30 Stockholm, Sweden.

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http://dx.doi.org/10.1186/s13034-017-0195-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706157PMC
November 2017

[Insufficient knowledge of the relationship between sex chromosome abnormalities and psychiatric diagnoses].

Lakartidningen 2017 06 2;114. Epub 2017 Jun 2.

Karolinska Institutet - Institutionen för klinisk neurovetenskap Stockholm, Sweden - Department of Clinical Neuroscience Stockholm, Sweden.

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June 2017

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Am J Med Genet A 2017 May 20;173(5):1396-1399. Epub 2017 Mar 20.

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

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http://dx.doi.org/10.1002/ajmg.a.38214DOI Listing
May 2017

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

J Hum Genet 2017 Apr 26;62(4):503-506. Epub 2017 Jan 26.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.157DOI Listing
April 2017

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

Leuk Lymphoma 2016 09 19;57(9):2161-70. Epub 2016 Apr 19.

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

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http://dx.doi.org/10.3109/10428194.2015.1136740DOI Listing
September 2016

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Am J Hum Genet 2016 Feb 28;98(2):363-72. Epub 2016 Jan 28.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester M13 9WL, UK. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(15)00509-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500509
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http://dx.doi.org/10.1016/j.ajhg.2015.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746363PMC
February 2016

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

Neurol Genet 2016 Feb 21;2(1):e49. Epub 2016 Jan 21.

Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817910PMC
February 2016

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Am J Med Genet A 2016 Jan 30;170A(1):266-9. Epub 2015 Sep 30.

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

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http://dx.doi.org/10.1002/ajmg.a.37387DOI Listing
January 2016

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Mol Genet Genomic Med 2016 Jan 22;4(1):39-45. Epub 2015 Sep 22.

Department of Molecular Medicine and SurgeryCenter for Molecular MedicineCMM L8:02Karolinska InstitutetKarolinska University HospitalStockholmSweden; Department of Clinical GeneticsKarolinska University HospitalStockholmSweden.

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http://dx.doi.org/10.1002/mgg3.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707034PMC
January 2016

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Nat Genet 2015 Jun 11;47(6):672-6. Epub 2015 May 11.

1] Department of Laboratory Medicine, Division of Clinical Genetics, Lund University, Lund, Sweden. [2] Department of Clinical Genetics, University and Regional Laboratories Region Skåne, Lund, Sweden.

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http://dx.doi.org/10.1038/ng.3301DOI Listing
June 2015

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.

Eur J Med Genet 2015 Mar 31;58(3):129-33. Epub 2015 Jan 31.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.01.003DOI Listing
March 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

PLoS One 2014 9;9(1):e85313. Epub 2014 Jan 9.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden ; Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085313PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887047PMC
September 2014

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Mol Genet Genomic Med 2014 Sep 14;2(5):402-11. Epub 2014 May 14.

Department of Molecular Medicine and Surgery and Center 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/mgg3.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190875PMC
September 2014

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Am J Med Genet A 2014 Jul 26;164A(7):1635-41. Epub 2014 Mar 26.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Center for 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.36502DOI Listing
July 2014

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

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

The phenotype range of achondrogenesis 1A.

Am J Med Genet A 2013 Oct 16;161A(10):2554-8. Epub 2013 Aug 16.

Department of Molecular Medicine and Surgery, 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.36106DOI Listing
October 2013

Partial tetrasomy 14 associated with multiple malformations.

Am J Med Genet A 2013 Jun 23;161A(6):1284-90. Epub 2013 Apr 23.

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.35887DOI Listing
June 2013

High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.

Genes Chromosomes Cancer 2012 Feb 10;51(2):196-206. Epub 2011 Nov 10.

Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Sweden.

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http://dx.doi.org/10.1002/gcc.20944DOI Listing
February 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

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

Molecular and clinical characterization of patients with overlapping 10p deletions.

Am J Med Genet A 2010 May;152A(5):1233-43

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

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http://dx.doi.org/10.1002/ajmg.a.33366DOI Listing
May 2010

Quantitation of RNA decay in dried blood spots during 20 years of storage.

Clin Chem Lab Med 2009 ;47(12):1467-9

Division of Pediatrics, Department of Clinical Science, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.

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https://www.degruyter.com/view/j/cclm.2009.47.issue-12/cclm.
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http://dx.doi.org/10.1515/CCLM.2009.351DOI Listing
February 2010

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts.

Am J Med Genet A 2009 Aug;149A(8):1706-11

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

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http://dx.doi.org/10.1002/ajmg.a.32984DOI Listing
August 2009

Expression of PTEN and SHP1, investigated from tissue microarrays in pediatric acute lymphoblastic, leukemia.

Pediatr Hematol Oncol 2009 Jan;26(1):48-56

Department of Clinical Science, Intervention and Technology (CLINTEC), Division of Pediatrics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1080/08880010802625530DOI Listing
January 2009

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hum Mol Genet 2007 Jul 21;16(14):1773-82. Epub 2007 May 21.

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddm125DOI Listing
July 2007

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Eur J Hum Genet 2007 Feb 15;15(2):143-9. Epub 2006 Nov 15.

Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201737DOI Listing
February 2007

Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia.

Authors:
Ann Nordgren

Leuk Lymphoma 2003 Dec;44(12):2039-53

Department of Molecular Medicine, Karolinska Institutet, L8-02, Karolinska Hospital SE-171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1080/1042819031000083361DOI Listing
December 2003