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Magnus Nordenskjöld

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Sweden

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Heterozygote

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Publications

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Carlsson Göran; Elinder Göran; Malmgren Helena; Trebinska Alicja; Grzybowska Ewa; Dahl Niklas; Nordenskjöld Magnus; Fadeel Bengt
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Bremer Anna; Schoumans Jacqueline; Nordenskjöld Magnus; Anderlid Britt-Marie; Giacobini Maibritt
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Wang Xiangling; Ottosson Astrid; Ji Chunyan; Feng Xiaoli; Nordenskjöld Magnus; Henter Jan-Inge; Fadeel Bengt; Zheng Chengyun
Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity.

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All Publications

2009: Carlsson Göran; Elinder Göran; Malmgren Helena; Trebinska Alicja; Grzybowska Ewa; Dahl Niklas; Nordenskjöld Magnus; Fadeel Bengt
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
Pediatric blood & cancer 2009;53(6):1143-6.
2009: Bremer Anna; Schoumans Jacqueline; Nordenskjöld Magnus; Anderlid Britt-Marie; Giacobini Maibritt
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
European journal of medical genetics 2009;52(5):358-62.
2009: Wang Xiangling; Ottosson Astrid; Ji Chunyan; Feng Xiaoli; Nordenskjöld Magnus; Henter Jan-Inge; Fadeel Bengt; Zheng Chengyun
Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity.
Haematologica 2009;94(4):470-8.
2008: Carlsson G; van't Hooft I; Melin M; Entesarian M; Laurencikas E; Nennesmo I; Trebinska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjöld M; Fadeel B; Henter J-I
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
Journal of internal medicine 2008;264(4):388-400.
2008: Horne AnnaCarin; Ramme Kim Göransdotter; Rudd Eva; Zheng Chengyun; Wali Yasser; al-Lamki Zakia; Gürgey Aytemiz; Yalman Nevin; Nordenskjöld Magnus; Henter Jan-Inge
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
British journal of haematology 2008;143(1):75-83.
2008: Zhang Shouting; Ma Daoxin; Wang Xiangling; Celkan Tiraje; Nordenskjöld Magnus; Henter Jan-Inge; Fadeel Bengt; Zheng Chengyun
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.
British journal of haematology 2008;142(3):469-79.
2008: Ma Daoxin; Rudd Eva; Edner Josefine; Gavhed Sofie; Ramme Kim Göransdotter; Fadeel Bengt; Nordenskjöld Magnus; Henter Jan-Inge; Zheng Chengyun
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
Pediatric blood & cancer 2008;50(5):1067-9.
2008: Kuchinskaya Ekaterina; Heyman Mats; Nordgren Ann; Schoumans Jacqueline; Staaf Johan; Borg Ake; Söderhäll Stefan; Grandér Dan; Nordenskjöld Magnus; Blennow Elisabeth
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.
British journal of haematology 2008;140(5):572-7.
2008: de Ståhl Teresita Díaz; Sandgren Johanna; Piotrowski Arkadiusz; Nord Helena; Andersson Robin; Menzel Uwe; Bogdan Adam; Thuresson Ann-Charlotte; Poplawski Andrzej; von Tell Desiree; Hansson Caisa M; Elshafie Amir I; Elghazali Gehad; Imreh Stephan; Nordenskjöld Magnus; Upadhyaya Meena; Komorowski Jan; Bruder Carl E G; Dumanski Jan P
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Human mutation 2008;29(3):398-408.
2008: Rudd E; Bryceson Y T; Zheng C; Edner J; Wood S M; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen A G; Ljunggren H-G; Fadeel B; Nordenskjöld M; Henter J-I
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Journal of medical genetics 2008;45(3):134-41.
2007: Tham Emma; Grandell Ulla; Lindgren Eva; Toss Göran; Skogseid Britt; Nordenskjöld Magnus
Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.
The Journal of clinical endocrinology and metabolism 2007;92(9):3389-95.
2007: Carlsson Göran; Melin Malin; Dahl Niklas; Ramme Kim Göransdotter; Nordenskjöld Magnus; Palmblad Jan; Henter Jan-Inge; Fadeel Bengt
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(6):813-9.
2007: Kuchinskaya E; Nordgren A; Heyman M; Schoumans J; Corcoran M; Staaf J; Borg A; Söderhäll S; Grandér D; Nordenskjöld M; Blennow E
Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2007;21(6):1327-30.
2007: Gustavsson Peter; Schoumans Jacqueline; Staaf Johan; Borg Ake; Nordenskjöld Magnus; Annerén Göran
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
European journal of medical genetics 2007;50(3):237-41.
2007: Karlsson Jenny; Carlsson Göran; Ramme Kim Göransdotter; Hägglund Hans; Fadeel Bengt; Nordenskjöld Magnus; Henter Jan-Inge; Palmblad Jan; Pütsep Katrin; Andersson Mats
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
British journal of haematology 2007;137(2):166-9.
2007: Zhou Xiao-Lei; Giacobini MaiBritt; Anderlid Britt-Marie; Anckarsäter Henrik; Omrani Davood; Gillberg Christopher; Nordenskjöld Magnus; Lindblom Annika
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):351-4.
2007: Melin M; Entesarian M; Carlsson G; Garwicz D; Klein C; Fadeel B; Nordenskjöld M; Palmblad J; Henter J I; Dahl N
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Biochemical and biophysical research communications 2007;353(3):571-5.
2006: Carlsson Goran; Garwicz Daniel; Nordenskjöld Magnus; Fadeel Bengt; Palmblad Jan; Henter Jan-Inge
[Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia]
Läkartidningen 2006;103(50-52):4022-7.
2006: Carlsson Göran; Andersson Mats; Pütsep Katrin; Garwicz Daniel; Nordenskjöld Magnus; Henter Jan-Inge; Palmblad Jan; Fadeel Bengt
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.
Acta paediatrica (Oslo, Norway : 1992) 2006;95(12):1526-32.
2006: Carlsson Göran; Aprikyan Andrew A G; Ericson Kim Göransdotter; Stein Steve; Makaryan Vahagn; Dale David C; Nordenskjöld Magnus; Fadeel Bengt; Palmblad Jan; Hentera Jan-Inge
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.
Haematologica 2006;91(5):589-95.
2006: Gustavsson P; Schoumans J; Staaf J; Jönsson G; Carlsson F; Kristoffersson U; Borg A; Nordenskjöld M; Dahl N
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Clinical genetics 2006;69(5):441-3.
2006: Ek Sara; Björck Erik; Högerkorp Carl-Magnus; Nordenskjöld Magnus; Porwit-MacDonald Anna; Borrebaeck Carl A K
Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival.
International journal of cancer. Journal international du cancer 2006;118(8):2092-7.
2006: Karpova Maria B; Schoumans Jacqueline; Blennow Elisabeth; Ernberg Ingemar; Henter Jan-Inge; Smirnov Aleksandr F; Nordenskjöld Magnus; Fadeel Bengt
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.
International journal of oncology 2006;28(3):605-17.
2006: Bu L M; Bradley M; Söderhäll C; Wahlgren C F; Kockum I; Nordenskjöld M
Genome-wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2006;36(2):204-10.
2005: Buckley Patrick G; Mantripragada Kiran K; Díaz de Ståhl Teresita; Piotrowski Arkadiusz; Hansson Caisa M; Kiss Hajnalka; Vetrie David; Ernberg Ingemar T; Nordenskjöld Magnus; Bolund Lars; Sainio Markku; Rouleau Guy A; Niimura Michihito; Wallace Andrew J; Evans D Gareth R; Grigelionis Gintautas; Menzel Uwe; Dumanski Jan P
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
Human mutation 2005;26(6):540-9.
2005: Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid B-M; Nordenskjöld M
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
Journal of medical genetics 2005;42(9):699-705.
2005: Schoumans Jacqueline; Staaf Johan; Jönsson Göran; Rantala Johanna; Zimmer Kerstin Sars; Borg Ake; Nordenskjöld Magnus; Anderlid Britt-Marie
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
European journal of medical genetics 2005;48(3):290-300.
2005: Kuchinskaya E; Heyman M; Grandér D; Linderholm M; Söderhäll S; Zaritskey A; Nordgren A; Porwit-Macdonald A; Zueva E; Pawitan Y; Corcoran M; Nordenskjöld M; Blennow E
Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles.
European journal of haematology 2005;74(6):466-80.
2005: Schoumans Jacqueline; Sanner Gunnar; Nordenskjöld Magnus; Anderlid Britt-Marie
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).
American journal of medical genetics. Part A 2005;134(3):254-8.
2005: Björck Erik; Ek Sara; Landgren Ola; Jerkeman Mats; Ehinger Mats; Björkholm Magnus; Borrebaeck Carl A K; Porwit-MacDonald Anna; Nordenskjöld Magnus
High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma.
Blood 2005;105(7):2908-15.
2005: Schoumans Jacqueline; Nordgren Ann; Ruivenkamp Claudia; Brøndum-Nielsen Karen; Teh Bin Tean; Annéren Göran; Holmberg Eva; Nordenskjöld Magnus; Anderlid Britt-Marie
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
European journal of human genetics : EJHG 2005;13(2):260-3.
2005: Karpova M B; Schoumans J; Ernberg I; Henter J-I; Nordenskjöld M; Fadeel B
Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2005;19(1):159-61.
2004: Lindvall Charlotta; Furge Kyle; Björkholm Magnus; Guo Xiang; Haab Brian; Blennow Elisabeth; Nordenskjöld Magnus; Teh Bin Tean
Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes.
Haematologica 2004;89(9):1072-81.
2004: Stewart Douglas R; Huang Alina; Faravelli Francesca; Anderlid Britt-Marie; Medne Livija; Ciprero Karen; Kaur Maninder; Rossi Elena; Tenconi Romano; Nordenskjöld Magnus; Gripp Karen W; Nicholson Linda; Meschino Wendy S; Capua Esther; Quarrell Oliver W J; Flint Jonathon; Irons Mira; Giampietro Philip F; Schowalter David B; Zaleski Christina A; Malacarne Michela; Zackai Elaine H; Spinner Nancy B; Krantz Ian D
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Ek Sara; Björck Erik; Porwit-MacDonald Anna; Nordenskjöld Magnus; Borrebaeck Carl A K
Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis.
Haematologica 2004;89(6):686-95.
2004: Schoumans Jacqueline; Nielsen Kate; Jeppesen Iben; Anderlid Britt-Marie; Blennow Elisabeth; Brøndum-Nielsen Karen; Nordenskjöld Magnus
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
European journal of human genetics : EJHG 2004;12(6):447-54.
2004: Schoumans J; Anderlid B-M; Blennow E; Teh B T; Nordenskjöld M
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances.
Journal of medical genetics 2004;41(3):198-202.
2003: Khoo Sok Kean; Kahnoski Katherine; Sugimura Jun; Petillo David; Chen Jindong; Shockley Ken; Ludlow John; Knapp Robert; Giraud Sophie; Richard Stéphane; Nordenskjöld Magnus; Teh Bin Tean
Inactivation of BHD in sporadic renal tumors.
Cancer research 2003;63(15):4583-7.
2003: Björck Erik; Landgren Ola; Schoumans Jacqueline; Christensson Birger; Björkholm Magnus; MacDonald Anna Porwit; Nordenskjöld Magnus
Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma.
Leukemia & lymphoma 2003;44(7):1229-34.
2003: Lindvall Charlotta; Hou Mi; Komurasaki Toshi; Zheng Chengyun; Henriksson Marie; Sedivy John M; Björkholm Magnus; Teh Bin Tean; Nordenskjöld Magnus; Xu Dawei
Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene.
Cancer research 2003;63(8):1743-7.
2003: Li Chunde; Grönberg Henrik; Matsuyama Hideyasu; Weber Günther; Nordenskjöld Magnus; Naito Katsusuke; Bergh Anders; Bergerheim Ulf; Damber Jan-Erik; Larsson Catharina; Ekman Peter
Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene.
International journal of molecular medicine 2003;11(4):529-33.
2003: Anderlid Britt-Marie; Schoumans Jacqueline; Hallqvist Asa; Ståhl Ylva; Wallin Agneta; Blennow Elisabeth; Nordenskjöld Magnus
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
European journal of human genetics : EJHG 2003;11(1):89-92.
2003: Ericson Kim Göransdotter; Fadeel Bengt; Andersson Mats; Gudmundsson Gudmundur H; Gürgey Aytemiz; Yalman Nevin; Janka Gritta; Nordenskjöld Magnus; Henter Jan-Inge
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
Human genetics 2003;112(1):98-9.
2002: Khoo S K; Giraud S; Kahnoski K; Chen J; Motorna O; Nickolov R; Binet O; Lambert D; Friedel J; Lévy R; Ferlicot S; Wolkenstein P; Hammel P; Bergerheim U; Hedblad M-A; Bradley M; Teh B T; Nordenskjöld M; Richard S
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
Journal of medical genetics 2002;39(12):906-12.
2002: Bui The-Hung; Blennow Elisabeth; Nordenskjöld Magnus
Prenatal diagnosis: molecular genetics and cytogenetics.
Best practice & research. Clinical obstetrics & gynaecology 2002;16(5):629-43.
2002: Bui The-Hung; Blennow Elisabeth; Nordenskjöld Magnus
[New analytic methods provide answers regarding chromosome aberrations in 1-2 days]
Läkartidningen 2002;99(37):3601-2.
2002: Söderhäll C; Bradley M; Kockum I; Luthman H; Wahlgren C-F; Nordenskjöld M
Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor b;alpha; regions in Swedish atopic dermatitis families.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2002;32(8):1199-202.
2002: Bradley M; Söderhäll C; Luthman H; Wahlgren C-F; Kockum I; Nordenskjöld M
Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population.
Human molecular genetics 2002;11(13):1539-48.
2002: Anderlid Britt-Marie; Schoumans Jacqueline; Annerén Göran; Tapia-Paez Isabel; Dumanski Jan; Blennow Elisabeth; Nordenskjöld Magnus
FISH-mapping of a 100-kb terminal 22q13 deletion.
Human genetics 2002;110(5):439-43.
2002: Malmgren H; Sahlén S; Inzunza J; Aho M; Rosenlund B; Fridström M; Hovatta O; Ahrlund-Richter L; Nordenskjöld M; Blennow E
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations.
Molecular human reproduction 2002;8(5):502-10.
2002: Castaños-Vélez Esmeralda; Heiden Thomas; Lindvall Charlotta; Capello Daniela; Sandlund Agneta; Imreh Stefan; Blennow Elisabeth; Andersson Leif C; Gaidano Gianluca; Nordenskjöld Magnus; Biberfeld Peter
Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations.
AIDS research and human retroviruses 2002;18(5):383-90.
2002: Anderlid Britt-Marie; Schoumans Jacqueline; Annerén Göran; Sahlén Sigrid; Kyllerman Mårten; Vujic Mihailo; Hagberg Bengt; Blennow Elisabeth; Nordenskjöld Magnus
Subtelomeric rearrangements detected in patients with idiopathic mental retardation.
American journal of medical genetics 2002;107(4):275-84.
2002: Nordgren Ann; Heyman Mats; Sahlén Sigrid; Schoumans Jacqueline; Söderhäll Stefan; Nordenskjöld Magnus; Blennow Elisabeth
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.
European journal of haematology 2002;68(1):31-41.
2001: Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre A G; Westphal O; Nilsson N O; Elfving M; Ellis I; Anderlid B M; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski J P
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Human genetics 2001;109(5):551-8.
2001: Lindvall C; Nordenskjöld M; Porwit A; Björkholm M; Blennow E
Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements.
Haematologica 2001;86(11):1158-64.
2001: Bradley M; Söderhäll C; Wahlgren C F; Luthman H; Nordenskjöld M; Kockum I
The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis.
Acta dermato-venereologica 2001;81(5):340-2.
2001: Nordgren A; Schoumans J; Söderhäll S; Nordenskjöld M; Blennow E
Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype.
British journal of haematology 2001;114(4):786-93.
2001: Fridström M; Ahrlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.
Prenatal diagnosis 2001;21(9):781-7.
2001: Khoo S K; Bradley M; Wong F K; Hedblad M A; Nordenskjöld M; Teh B T
Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.
Oncogene 2001;20(37):5239-42.
2001: Söderhäll C; Bradley M; Kockum I; Wahlgren C F; Luthman H; Nordenskjöld M
Linkage and association to candidate regions in Swedish atopic dermatitis families.
Human genetics 2001;109(2):129-35.
2001: Nordgren A; Farnebo F; Johansson B; Holmgren G; Forestier E; Larsson C; Söderhäll S; Nordenskjöld M; Blennow E
Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping.
European journal of haematology 2001;66(5):297-304.
2001: Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
American journal of human genetics 2001;68(3):590-7.
2000: Iwarsson E; Malmgren H; Inzunza J; Ahrlund-Richter L; Sjöblom P; Rosenlund B; Fridström M; Hovatta O; Nordenskjöld M; Blennow E
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.
Prenatal diagnosis 2000;20(13):1038-47.
2000: Zhang A; Zheng C; Lindvall C; Hou M; Ekedahl J; Lewensohn R; Yan Z; Yang X; Henriksson M; Blennow E; Nordenskjöld M; Zetterberg A; Björkholm M; Gruber A; Xu D
Frequent amplification of the telomerase reverse transcriptase gene in human tumors.
Cancer research 2000;60(22):6230-5.
2000: Björck E J; Bui T H; Wijmenga C; Grandell U; Nordenskjöld M
Early prenatal diagnosis of the ICF syndrome.
Prenatal diagnosis 2000;20(10):828-31.
2000: Bradley M; Kockum I; Söderhäll C; Van Hage-Hamsten M; Luthman H; Nordenskjöld M; Wahlgren C F
Characterization by phenotype of families with atopic dermatitis.
Acta dermato-venereologica 2000;80(2):106-10.
2000: Nordgren A; Farnebo F; Björkholm M; Sahlén S; Porwit-MacDonald A; Osby E; Kytölä S; Larsson C; Nordenskjöld M; Blennow E
Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.
The hematology journal : the official journal of the European Haematology Association / EHA 2000;1(2):95-101.
1999: Iwarsson E; Lundqvist M; Inzunza J; Ahrlund-Richter L; Sjöblom P; Lundkvist O; Simberg N; Nordenskjöld M; Blennow E
A high degree of aneuploidy in frozen-thawed human preimplantation embryos.
Human genetics 1999;104(5):376-82.
1999: Carlson K M; Gruber A; Liliemark E; Larsson R; Nordenskjöld M
Characterization of drug-resistant cell lines by comparative genomic hybridization.
Cancer genetics and cytogenetics 1999;111(1):32-6.
1999: Li C; Berx G; Larsson C; Auer G; Aspenblad U; Pan Y; Sundelin B; Ekman P; Nordenskjöld M; van Roy F; Bergerheim U S
Distinct deleted regions on chromosome segment 16q23-24 associated with metastases in prostate cancer.
Genes, chromosomes & cancer 1999;24(3):175-82.
1998: Inzunza J; Iwarsson E; Fridström M; Rosenlund B; Sjöblom P; Hillensjö T; Blennow E; Jones B; Nordenskjöld M; Ahrlund-Richter L
Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis.
Prenatal diagnosis 1998;18(13):1381-8.
1998: Teh B T; Esapa C T; Houlston R; Grandell U; Farnebo F; Nordenskjöld M; Pearce C J; Carmichael D; Larsson C; Harris P E
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
American journal of human genetics 1998;63(5):1544-9.
1998: Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridström M; Rosenlund B; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Preimplantation genetic diagnosis of DiGeorge syndrome.
Molecular human reproduction 1998;4(9):871-5.
1998: Iwarsson E; Ahrlund-Richter L; Inzunza J; Rosenlund B; Fridström M; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5.
Molecular human reproduction 1998;4(7):719-23.
1998: Teh B T; Blennow E; Giraud S; Sahlén S; Hii S I; Brookwell R; Brauch H; Nordenskjöld M; Larsson C; Nicol D
Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution.
Genes, chromosomes & cancer 1998;21(3):260-4.
1998: Li C; Weber G; Ekman P; Lagercrantz J; Norlen B J; Akerström G; Nordenskjöld M; Bergerheim U S
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.
Human mutation 1998;Suppl 1():S31-3.
1997: Carlson K M; Bruder C; Nordenskjöld M; Dumanski J P
1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization.
Genes, chromosomes & cancer 1997;20(4):419-24.
1997: Nordgren A; Nordenskjöld M; Söderhäll S; Porwit-MacDonald A; Blennow E
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.
Cancer genetics and cytogenetics 1997;99(2):93-6.
1997: Enmark E; Pelto-Huikko M; Grandien K; Lagercrantz S; Lagercrantz J; Fried G; Nordenskjöld M; Gustafsson J A
Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern.
The Journal of clinical endocrinology and metabolism 1997;82(12):4258-65.
1997: Tannergård P; Liu T; Weger A; Nordenskjöld M; Lindblom A
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer.
Human genetics 1997;101(1):51-5.
1997: Iwarsson E; Blennow E S; Anvret M; Nordenskjöld M; Inzunza J; Ahrlund-Richter L; Pousette A; Hillensjó T; Fridström M; Rosenlund B; Sjöblom P
[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis]
Läkartidningen 1997;94(35):2919-22.
1997: Bajalica-Lagercrantz S; Piehl F; Lagercrantz J; Lindahl J; Weber G; Kerckeart J P; Porwit-MacDonald A; Nordenskjöld M
Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 1997;11(4):594-8.
1997: Weber G; Grimmond S; Lagercrantz J; Friedman E; Phelan C; Carson E; Hayward N; Jacobovitz O; Nordenskjöld M; Larsson C
Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.
Human genetics 1997;99(1):130-2.
1996: Bajalica-Lagercrantz S; Tingaard Pedersen N; Sørensen A G; Nordenskjöld M
Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma.
Cancer genetics and cytogenetics 1996;90(2):102-5.
1996: DeMarco L; Stratakis C A; Boson W L; Jakbovitz O; Carson E; Andrade L M; Amaral V F; Rocha J L; Choursos G P; Nordenskjöld M; Friedman E
Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene.
Human genetics 1996;98(2):185-8.
1996: Lagercrantz J; Kedra D; Carson E; Nordenskjöld M; Dumanski J P; Weber G; Piehl F
Sequence and expression of the mouse homologue to human phospholipase C beta3 neighboring gene.
Biochemical and biophysical research communications 1996;223(2):335-40.
1996: Townson S; Lagercrantz J; Grimmond S; Silins G; Nordenskjöld M; Weber G; Hayward N
Characterization of the murine VEGF-related factor gene.
Biochemical and biophysical research communications 1996;220(3):922-8.
1996: Lagercrantz J; Carson E; Larsson C; Nordenskjöld M; Weber G
Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13.
Genomics 1996;31(3):380-4.
1995: Tannergård P; Lipford J R; Kolodner R; Frödin J E; Nordenskjöld M; Lindblom A
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.
Cancer research 1995;55(24):6092-6.
1995: Tannergård P; Nordenskjöld M; Lindblom A
Finnish mutations in Swedish HNPCC families.
Nature medicine 1995;1(11):1104.
1995: Lagercrantz J; Larsson C; Grimmond S; Skogseid B; Gobl A; Friedman E; Carson E; Phelan C; Oberg K; Nordenskjöld M
Candidate genes for multiple endocrine neoplasia type 1.
Journal of internal medicine 1995;238(3):245-8.
1995: Bajalica S; Brøndum-Nielsen K; Sørensen A G; Pedersen N T; Kristoffersson U; Akerman M; Anderson M; Pisa P; Nordenskjöld M
Characterization of add(1)(p36) in non-Hodgkin lymphomas by fluorescence in situ hybridization.
Genes, chromosomes & cancer 1995;13(1):34-9.
1995: Lagercrantz J; Carson E; Phelan C; Grimmond S; Rosén A; Daré E; Nordenskjöld M; Hayward N K; Larsson C; Weber G
Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3).
Genomics 1995;26(3):467-72.
1995: Blennow E; Nielsen K B; Telenius H; Carter N P; Kristoffersson U; Holmberg E; Gillberg C; Nordenskjöld M
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
American journal of medical genetics 1995;55(1):85-94.
1994: Blennow E; Bui T H; Kristoffersson U; Vujic M; Annerén G; Holmberg E; Nordenskjöld M
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
Prenatal diagnosis 1994;14(11):1019-28.
1994: Xie Y G; Han F Y; Bajalica S; Blennow E; Kristoffersson U; Dumanski J P; Nordenskjöld M
Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22.
Human genetics 1994;94(4):339-45.
1994: Friedman E; Bale A E; Carson E; Boson W L; Nordenskjöld M; Ritzén M; Ferreira P C; Jammal A; De Marco L
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(18):8457-61.
1994: Tannergård P; Zabarovsky E; Stanbridge E; Nordenskjöld M; Lindblom A
Sublocalization of a locus at 3p21.3-23 predisposing to hereditary nonpolyposis colon cancer.
Human genetics 1994;94(2):210-4.
1994: Larsson C; Nordenskjöld M
Family screening in multiple endocrine neoplasia type 1 (MEN 1).
Annals of medicine 1994;26(3):191-8.
1994: Ruttledge M H; Xie Y G; Han F Y; Peyrard M; Collins V P; Nordenskjöld M; Dumanski J P
Deletions on chromosome 22 in sporadic meningioma.
Genes, chromosomes & cancer 1994;10(2):122-30.
1994: Blennow E; Telenius H; de Vos D; Larsson C; Henriksson P; Johansson O; Carter N P; Nordenskjöld M
Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.
American journal of human genetics 1994;54(5):877-83.
1994: Lindblom A; Sandelin K; Iselius L; Dumanski J; White I; Nordenskjöld M; Larsson C
Predisposition for breast cancer in carriers of constitutional translocation 11q;22q.
American journal of human genetics 1994;54(5):871-6.
1994: Telenius H; Mulligan L; Ponder B; Berg B; Berg M; Hallengren B; Jansson S; Svensson K A; Wallin G; Nordenskjöld M
[Multiple endocrine neoplasia type 2 A: identification of the gene simplifies screening]
Läkartidningen 1994;91(13):1307-10, 1315.
1994: Friedman E; Adams E F; Höög A; Gejman P V; Carson E; Larsson C; De Marco L; Werner S; Fahlbusch R; Nordenskjöld M
Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors.
The Journal of clinical endocrinology and metabolism 1994;78(3):568-74.
1994: Lindblom A; Ruttledge M; Collins V P; Nordenskjöld M; Dumanski J P
Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression.
International journal of cancer. Journal international du cancer 1994;56(3):354-7.
1994: Ruttledge M H; Sarrazin J; Rangaratnam S; Phelan C M; Twist E; Merel P; Delattre O; Thomas G; Nordenskjöld M; Collins V P
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas.
Nature genetics 1994;6(2):180-4.
1994: Janson M; Nordenskjöld M
A constitutional mutation within the retinoblastoma gene detected by PFGE.
Clinical genetics 1994;45(1):5-10.
1993: Lindblom A; Tannergård P; Werelius B; Nordenskjöld M
Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer.
Nature genetics 1993;5(3):279-82.
1993: Nordenskjöld A; Hedborg F; Luthman H; Nordenskjöld M
Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus.
Human genetics 1993;92(3):296-8.
1993: Karlbom A E; James C D; Boethius J; Cavenee W K; Collins V P; Nordenskjöld M; Larsson C
Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10.
Human genetics 1993;92(2):169-74.
1993: Lindblom A; Skoog L; Rotstein S; Werelius B; Larsson C; Nordenskjöld M
Loss of heterozygosity in familial breast carcinomas.
Cancer research 1993;53(18):4356-61.
1993: Xie Y G; Han F Y; Peyrard M; Ruttledge M H; Fransson I; DeJong P; Collins J; Dunham I; Nordenskjöld M; Dumanski J P
Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12.
Human molecular genetics 1993;2(9):1361-8.
1993: Lindblom A; Rotstein S; Skoog L; Nordenskjöld M; Larsson C
Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases.
Cancer research 1993;53(16):3707-11.
1993: Blennow E; Annerén G; Bui T H; Berggren E; Asadi E; Nordenskjöld M
Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
American journal of human genetics 1993;53(2):433-42.
1993: Lindblom A; Rotstein S; Nordenskjöld M; Larsson C
Linkage analysis with markers on 17q in 29 Swedish breast cancer families.
American journal of human genetics 1993;52(4):749-53.
1993: Lindblom A; Skoog L; Andersen T I; Rotstein S; Nordenskjöld M; Larsson C
Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas.
Human genetics 1993;91(1):6-12.
1992: Blennow E; Telenius H; Larsson C; de Vos D; Bajalica S; Ponder B A; Nordenskjöld M
Complete characterization of a large marker chromosome by reverse and forward chromosome painting.
Human genetics 1992;90(4):371-4.
1992: Telenius H; Carter N P; Bebb C E; Nordenskjöld M; Ponder B A; Tunnacliffe A
Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer.
Genomics 1992;13(3):718-25.
1992: Larsson C; Weber G; Kvanta E; Lewis K; Janson M; Jones C; Glaser T; Evans G; Nordenskjöld M
Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus.
Human genetics 1992;89(2):187-93.
1992: Telenius H; Pelmear A H; Tunnacliffe A; Carter N P; Behmel A; Ferguson-Smith M A; Nordenskjöld M; Pfragner R; Ponder B A
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes.
Genes, chromosomes & cancer 1992;4(3):257-63.
1991: Carlbom E; Sugawa N; Larsson C; Scambler P J; Dumanski J P; Collins V P; Nordenskjöld M
Identification of twelve new RFLP-markers on chromosome 22q11-qter.
Human genetics 1991;88(2):135-8.
1991: Janson M; Larsson C; Werelius B; Jones C; Glaser T; Nakamura Y; Jones C P; Nordenskjöld M
Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(23):10609-13.
1991: Dumanski J P; Carlbom E; Collins V P; Nordenskjöld M; Emanuel B S; Budarf M L; McDermid H E; Wolff R; O'Connell P; White R
A map of 22 loci on human chromosome 22.
Genomics 1991;11(3):709-19.
1991: Anvret M; Nordenskjöld M; Stolpe L; Johansson L; Bröndum-Nielsen K
Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere.
Human genetics 1991;86(5):481-3.
1991: Anvret M; Stolpe L; Dahl N; Eiserman M; Nordenskjöld M; Starborg M; Johansson L
Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families.
Clinical genetics 1991;39(3):238-9.
1991: Kogner P; Björk O; Hedborg F; Nordenskjöld A; Nordenskjöld M; Söderhäll S; Theodorsson E
Characterization of neuropeptide Y in pediatric neural crest tumors: relation to tumor malignancy and genetic findings.
Progress in clinical and biological research 1991;366():351-7.
1990: Bjelfman C; Hedborg F; Johansson I; Nordenskjöld M; Påhlman S
Expression of the neuronal form of pp60c-src in neuroblastoma in relation to clinical stage and prognosis.
Cancer research 1990;50(21):6908-14.
1990: Dumanski J P; Rouleau G A; Nordenskjöld M; Collins V P
Molecular genetic analysis of chromosome 22 in 81 cases of meningioma.
Cancer research 1990;50(18):5863-7.
1990: Larsson C; Byström C; Skoog L; Rotstein S; Nordenskjöld M
Genomic alterations in human breast carcinomas.
Genes, chromosomes & cancer 1990;2(3):191-7.
1990: Collins V P; Nordenskjöld M; Dumanski J P
The molecular genetics of meningiomas.
Brain pathology (Zurich, Switzerland) 1990;1(1):19-24.
1990: Nordenskjöld M; Werelius B; Ringborg U
Allele losses in malignant melanoma reflect random events.
Anticancer research 1990;10(4):883-6.
1990: Janson M; Kock E; Nordenskjöld M
Constitutional deletions predisposing to retinoblastoma.
Human genetics 1990;85(1):21-4.
1990: Byström C; Larsson C; Blomberg C; Sandelin K; Falkmer U; Skogseid B; Oberg K; Werner S; Nordenskjöld M
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(5):1968-72.
1990: Dumanski J P; Geurts van Kessel A H; Ruttledge M; Wladis A; Sugawa N; Collins V P; Nordenskjöld M
Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter.
Human genetics 1990;84(3):219-22.
1990: Nordenskjöld M; Nicholson L; Edström L; Anvret M; Eiserman M; Slater C; Stolpe L
A normal male with an inherited deletion of one exon within the DMD gene.
Human genetics 1990;84(2):207-9.
1990: Larsson C; Nordenskjöld M
Multiple endocrine neoplasia.
Cancer surveys 1990;9(4):703-23.
1990: Nordenskjöld M
Recessive mutations in the oncogenesis of certain solid tumors.
Immunology series 1990;51():145-67.
1989: Nordenskjöld M; Larsson C; Oberg K; Nakamura Y
Mapping of the gene for multiple endocrine neoplasia type I to chromosome 11q13.
Pathologie-biologie 1989;37(9):951.
1989: Bergerheim U; Nordenskjöld M; Collins V P
Deletion mapping in human renal cell carcinoma.
Cancer research 1989;49(6):1390-6.
1988: Larsson C; Skogseid B; Oberg K; Nakamura Y; Nordenskjöld M
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.
Nature 1988;332(6159):85-7.
1988: Wiggs J; Nordenskjöld M; Yandell D; Rapaport J; Grondin V; Janson M; Werelius B; Petersen R; Craft A; Riedel K
Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene.
The New England journal of medicine 1988;318(3):151-7.
1987: Dumanski J P; Carlbom E; Collins V P; Nordenskjöld M
Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(24):9275-9.

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