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1

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline, Nordgren, Ann, Ruivenkamp, Claudia, Brøndum-Nielsen, Karen, Teh, Bin Tean, Annéren, Göran, Holmberg, Eva, Nordenskjöld, Magnus, Anderlid, Britt-Marie

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

2

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Anna Bremer, MaiBritt Giacobini, Mats Eriksson, Peter Gustavsson, Viviann Nordin, Elisabeth Fernell, Christopher Gillberg, Ann Nordgren, Åsa Uppströmer, Britt-Marie Anderlid, Magnus Nordenskjöld, Jacq

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 171 KB

english, 2011

3

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)

Xiao-Lei Zhou, MaiBritt Giacobini, Britt-Marie Anderlid, Henrik Anckarsäter, Davood Omrani, Christopher Gillberg, Magnus Nordenskjöld, Annika Lindblom

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

4

Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22–p21 tumour-suppressor region by two-colour fluorescencein situhybridization

Anna Szeles, Svetlana Bajalica-Lagercrantz, Annika Lindblom, Tamara Lushnikova, Vladimir I. Kashuba, Stephan Imreh, Magnus Nordenskjöld, George Klein, R. Zabarovsky

Journal:

Chromosome Research

Year:

1996

Language:

english

File:

PDF, 1.03 MB

english, 1996

5

Early prenatal diagnosis of the ICF syndrome

Erik J. Björck, The-Hung Bui, Cisca Wijmenga, Ulla Grandell, Magnus Nordenskjöld

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 78 KB

english, 2000

6

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt-Marie, Malmgren, Helena, Lagerstedt-Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Syk Lundb

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 6.05 MB

english, 2018

7

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

Michael S. Nahorski, Anne Reiman, Derek H.K. Lim, Ravi K. Nookala, Laurence Seabra, Xiaohong Lu, Janine Fenton, Uncaar Boora, Magnus Nordenskjöld, Farida Latif, Laurence D. Hurst, Eamonn R. Maher

Journal:

Year:

2011

Language:

english

File:

PDF, 463 KB

english, 2011

8

Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22

Ya-Gang Xie, Fei-Yu Han, Svetlana Bajalica, Elisabeth Blennow, Ulf Kristoffersson, Jan P. Dumanski, Magnus Nordenskjöld

Journal:

Year:

1994

Language:

english

File:

PDF, 622 KB

english, 1994

9

Genetic influence on dystocia

Michael Algovik, Emma Nilsson, Sven Cnattingius, Paul Lichtenstein, Agneta Nordenskjöld, Magnus Westgren

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2004

Language:

english

File:

PDF, 72 KB

english, 2004

10

Induction of dna damage by menadione (2-methyl-1,4-naphthoquinone) in primary cultures of rat hepatocytes

Helen Morrison, Bengt Jernström, Magnus Nordenskjöld, Hjördis Thor, Sten Orrenius

Journal:

Biochemical Pharmacology

Year:

1984

Language:

english

File:

PDF, 1.00 MB

english, 1984

11

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Winge, Mårten C.G., Hoppe, Torborg, Liedén, Agne, Nordenskjöld, Magnus, Vahlquist, Anders, Wahlgren, Carl-Fredrik, Törmä, Hans, Bradley, Maria, Berne, Berit

Journal:

Journal of Dermatological Science

Year:

2011

Language:

english

File:

PDF, 244 KB

english, 2011

12

Detailed Physical Map of Human Chromosomal Region 11q12-13 Shows High Meiotic Recombination Rate Around the MEN1 Locus

Marie Janson, Catharina Larsson, Barbro Werelius, Carol Jones, Tom Glaser, Yusuke Nakamura, C. Peter Jones and Magnus Nordenskjold

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 1.04 MB

english, 1991

13

Expression of the phosphoinositide-specific phospholipase Cβ3 gene in the rat

Lagercrantz, Jacob, Piehl, Fredrik, Nordenskjöld, Magnus, Larsson, Catharina, Weber, Gunther

Journal:

Year:

1995

File:

PDF, 301 KB

1995

14

Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1

Sean Grimmond, Gunther Weber, Catharina Larsson, Marilyn Walters, Bin Teh, Joseph Shepherd, Magnus Nordenskjold, Nick Hayward

Journal:

Year:

1995

Language:

english

File:

PDF, 569 KB

english, 1995

15

Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells

Shouting Zhang, Daoxin Ma, Xiangling Wang, Tiraje Celkan, Magnus Nordenskjöld, Jan-Inge Henter, Bengt Fadeel, Chengyun Zheng

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 542 KB

english, 2008

16

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors

Bin T. Teh, Christopher T. Esapa, Richard Houlston, Ulla Grandell, Filip Farnebo, Magnus Nordenskjöld, Christopher J. Pearce, David Carmichael, Catharina Larsson, Philip E. Harris

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

17

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization

Katrin M. Carlson, Carl Bruder, Magnus Nordenskjöld, Jan P. Dumanski

Journal:

Genes, Chromosomes and Cancer

Year:

1997

Language:

english

File:

PDF, 78 KB

english, 1997

18

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

Britt-Marie Anderlid, Jacqueline Schoumans, Göran Annerén, Sigrid Sahlén, Mårten Kyllerman, Mihailo Vujic, Bengt Hagberg, Elisabeth Blennow, Magnus Nordenskjöld

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 562 KB

english, 2002

19

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)

Jacqueline Schoumans, Gunnar Sanner, Magnus Nordenskjöld, Britt-Marie Anderlid

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 187 KB

english, 2005

20

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing

Chunde Li, Günther Weber, Peter Ekman, Jacob Lagercrantz, Bo Johan Norlen, Göran Åkerström, Magnus Nordenskjöld, Dr. Ulf S. R. Bergerheim

Journal:

Year:

1998

Language:

english

File:

PDF, 349 KB

english, 1998

21

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol

Ekaterina Kuchinskaya, Mats Heyman, Ann Nordgren, Stefan Söderhäll, Erik Forestier, Peder Wehner, Kim Vettenranta, Olafur Jonsson, Finn Wesenberg, Sigrid Sahlén, Magnus Nordenskjöld, Elisabeth Blennow

Journal:

British Journal of Haematology

Year:

2011

Language:

english

File:

PDF, 211 KB

english, 2011

22

Reactive products formed by peroxidase catalyzed oxidation of p-phenetidine

Roger Larsson, David Ross, Magnus Nordenskjöld, Björn Lindeke, Lars-Inge Olsson, Peter Moldéus

Journal:

Chemico-Biological Interactions

Year:

1984

Language:

english

File:

PDF, 831 KB

english, 1984

23

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 713 KB

english, 2019

24

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

Sahlin, Ellika, Gustavsson, Peter, Liedén, Agne, Papadogiannakis, Nikos, Bjäreborn, Linus, Pettersson, Karin, Nordenskjöld, Magnus, Iwarsson, Erik

Journal:

Fetal Diagnosis and Therapy

Year:

2014

Language:

english

File:

PDF, 526 KB

english, 2014

25

Complete characterization of a large marker chromosome by reverse and forward chromosome painting

Elisabeth Blennow, Håkan Telenius, Catharina Larsson, Diana Vos, Svetlana Bajalica, Bruce A. J. Ponder, Magnus Nordenskjöld

Journal:

Year:

1992

Language:

english

File:

PDF, 1.28 MB

english, 1992

26

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

Lindblom, Annika, Tannergård, Pia, Werelius, Barbro, Nordenskjöld, Magnus

Journal:

Nature Genetics

Year:

1993

File:

PDF, 447 KB

1993

27

A Case of Acute Lymphoblastic Leukemia, Near-Triploidy, and Poor Outcome: Characterization by Fluorescence In Situ Hybridization Using Chromosome-Specific Libraries from All Human Chromosomes

Ann Nordgren, Magnus Nordenskjöld, Stefan Söderhäll, Anna Porwit-MacDonald, Elisabeth Blennow

Journal:

Cancer Genetics and Cytogenetics

Year:

1997

Language:

english

File:

PDF, 338 KB

english, 1997

28

Prostaglandin synthase catalyzed activation of paracetamol and p-phenetidine

Moldéus, Peter, Andersson, Bo, Larsson, Roger, Lindeke, Björn, Rahimtula, Anver, Nordenskjöld, Magnus

Journal:

Toxicology Letters

Year:

1983

Language:

english

File:

PDF, 75 KB

english, 1983

29

Studies on the in vitro transfer of DNA binding benzo[a]pyrene metabolites from rat hepatocytes to human fibroblasts

Nordenskjöld, Magnus, Svensson, Sten-Åke, Jernström, Bengt, Moldéus, Peter, Dock, Lennart, Söderhäll, Stefan

Journal:

Year:

1981

Language:

english

File:

PDF, 2.74 MB

english, 1981

30

Hereditary breast cancer in sweden: a predominance of maternally inherited cases

Annika Lindblom, Sam Rotstein, Catharina Larsson, Magnus Nordenskjöld, Lennart Iselius

Journal:

Breast Cancer Research and Treatment

Year:

1992

Language:

english

File:

PDF, 657 KB

english, 1992

31

Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding

Ekaterina Kuchinskaya, Mats Heyman, Ann Nordgren, Jacqueline Schoumans, Johan Staaf, Åke Borg, Stefan Söderhäll, Dan Grandér, Magnus Nordenskjöld, Elisabeth Blennow

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

32

Multiple endocrine neoplasia 1

Magnus Nordenskjöld, Bertil Hamberger, Kjell Öberg

Journal:

Journal of Internal Medicine

Year:

1995

Language:

english

File:

PDF, 123 KB

english, 1995

33

Deletion Mapping of a Locus on Human Chromosome 22 Involved in the Oncogenesis of Meningioma

Jan P. Dumanski, Elisabeth Carlbom, V. Peter Collins and Magnus Nordenskjöld

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 962 KB

english, 1987

34

Localization of the MEN1 Gene to a Small Region within Chromosome 11q13 by Deletion Mapping in Tumors

Camilla Bystrom, Catharina Larsson, Carl Blomberg, Kerstin Sandelin, Ursula Falkmer, Britt Skogseid, Kjell Oberg, Sigbritt Werner and Magnus Nordenskjold

Journal:

Proceedings of the National Academy of Sciences

Year:

1990

Language:

english

File:

PDF, 988 KB

english, 1990

35

Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression

Annika Lindblom, Martin Ruttledge, V. Peter Collins, Magnus Nordenskjöld, Jan P. Dumanski

Journal:

International Journal of Cancer

Year:

1994

Language:

english

File:

PDF, 628 KB

english, 1994

36

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype

Ann Nordgren, Jacqueline Schoumans, Stefan Söderhäll, Magnus Nordenskjöld, Elisabeth Blennow

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 562 KB

english, 2001

37

Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10

A. Elisabeth Karlbom, C. David James, Jürgen Boethius, Webster K. Cavenee, V. Peter Collins, Magnus Nordenskjöld, Catharina Larsson

Journal:

Year:

1993

Language:

english

File:

PDF, 785 KB

english, 1993

38

Sequence and Expression of the Mouse Homologue to Human Phospholipase C β3 Neighboring Gene

Jacob Lagercrantz, Darek Kedra, Emma Carson, Magnus Nordenskjöld, Jan P. Dumanski, Günther Weber, Fredrik Piehl

Journal:

Biochemical and Biophysical Research Communications

Year:

1996

Language:

english

File:

PDF, 1.48 MB

english, 1996

39

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome

Scambler, Peter J., Carey, Alisoun H., Wyse, Richard K.H., Roach, Sherry, Dumanski, Jan P., Nordenskjold, Magnus, Williamson, Robert

Journal:

Year:

1991

Language:

english

File:

PDF, 949 KB

english, 1991

40

Simian AIDS-Related Lymphoma Growth in Severe Combined Immunodeficiency Mice Is Independent of Karyotypic Abnormalities or Bcl-6 Mutations

Castaños-Vélez, Esmeralda, Heiden, Thomas, Lindvall, Charlotta, Capello, Daniela, Sandlund, Agneta, Imreh, Stefan, Blennow, Elisabeth, Andersson, Leif C., Gaidano, Gianluca, Nordenskjöld, Magnus, Bibe

Journal:

AIDS Research and Human Retroviruses

Year:

2002

Language:

english

File:

PDF, 446 KB

english, 2002

41

Human Estrogen Receptor β-Gene Structure, Chromosomal Localization, and Expression Pattern 1

Enmark, Eva, Pelto-Huikko, Markku, Grandien, Kaj, Lagercrantz, Svetlana, Lagercrantz, Jacob, Fried, Gabriel, Nordenskjöld, Magnus, Gustafsson, Jan-Åke

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1997

Language:

english

File:

PDF, 1.59 MB

english, 1997

42

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations

Karlsson, Kasper, Sahlin, Ellika, Iwarsson, Erik, Westgren, Magnus, Nordenskjöld, Magnus, Linnarsson, Sten

Journal:

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

43

Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance

Esparza-Gordillo, Jorge, Matanovic, Anja, Marenholz, Ingo, Bauerfeind, Anja, Rohde, Klaus, Nemat, Katja, Lee-Kirsch, Min-Ae, Nordenskjöld, Magnus, Winge, Marten C. G., Keil, Thomas, Krüger, Renate, La

Journal:

Year:

2015

Language:

english

File:

PDF, 398 KB

english, 2015

44

Haploinsufficiency of UNC13D increases the risk of lymphoma

Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan-Inge, Meeths, Marie

Journal:

Year:

2019

Language:

english

File:

PDF, 201 KB

english, 2019

45

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers

Erik Iwarsson, Helena Malmgren, José Inzunza, Lars Ährlund-Richter, Peter Sjöblom, Björn Rosenlund, Margareta Fridström, Outi Hovatta, Magnus Nordenskjöld, Elisabeth Blennow

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

46

Differences in the repair of DNA strand breaks induced by 9-hydroxy-benzo(a)pyrene and trans-7,8-dihydro-7,8-dihydroxy-benzo(a)pyrene in cultured human fibroblasts

Magnus Nordenskjöld, Stefan Söderhäll, Peter Moldéus, Bengt Jernström

Journal:

Biochemical and Biophysical Research Communications

Year:

1978

Language:

english

File:

PDF, 380 KB

english, 1978

47

Genetic toxicity of dopamine

Peter Moléus, Magnus Nordenskjöld, George Bolcsfoldi, Andrievs Eiche, Ulla Haglund, Bo Lambert

Journal:

Mutation Research/Genetic Toxicology

Year:

1983

Language:

english

File:

PDF, 844 KB

english, 1983

48

Clinical Testing for Mutations in the MEN1 Gene in Sweden: A Report on 200 Unrelated Cases

Tham, Emma, Grandell, Ulla, Lindgren, Eva, Toss, Göran, Skogseid, Britt, Nordenskjöld, Magnus

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 210 KB

english, 2007

49

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Jeff A Klomp, David Petillo, Natalie M Niemi, Karl J Dykema, Jindong Chen, Ximing J Yang, Annika Sääf, Peter Zickert, Markus Aly, Ulf Bergerheim, Magnus Nordenskjöld, Sophie Gad, Sophie Giraud, Yves D

Journal:

BMC Medical Genomics

Year:

2010

Language:

english

File:

PDF, 484 KB

english, 2010

50

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

Margareta Fridström, Lars Ährlund-Richter, Erik Iwarsson, Helena Malmgren, José Inzunza, Björn Rosenlund, Peter Sjöblom, Magnus Nordenskjöld, Elisabeth Blennow, Outi Hovatta

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

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