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Kristina Lagerstedt

Associated

Visiting address : Karolinska Universitetssjukhuset, Solna, Cmm (L8:02) 171 76 Stockholm, Sweden
Postal address : Department of Molecular Medicine and Surgery (MMK), K1, Cancer Genetics , Karolinska Universitetssjukhuset, Solna (L6b:02) 171 76 Stockholm, Sweden
Delivery address : Karolinska Universitetssjukhuset, Solna, Cmm (L8:02) 171 76 Stockholm, Sweden

Publications

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund Ea, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-robinson K, et al
European journal of human genetics : EJHG 2016;24(2):198-207

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
Hammarsjö A, Nordgren A, Lagerstedt-robinson K, Malmgren H, Nilsson D, Wedrén S, et al
American journal of medical genetics. Part A 2016;170A(1):266-9

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi B, Lagerstedt-robinson K, Chiang Sc, Ben Bdira E, Abboud M, Belen B, et al
Genome medicine 2015;7():130-

A case with bladder exstrophy and unbalanced X chromosome rearrangement
Soderhall C, Lundin J, Lagerstedt-robinson K, Grigelioniene G, Lackgren G, Kockum Cc, et al
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2014;24(4):353-9

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Insight, Thompson Ba, Spurdle Ab, Plazzer Jp, Greenblatt Ms, Akagi K, et al
NATURE GENETICS 2014;46(2):107-15

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
Navarro Cl, Esteves-vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong Le Tt, et al
European journal of human genetics : EJHG 2014;22(8):1002-11

DNA repair genes are selectively mutated in diffuse large B cell lymphomas
De Miranda Nf, Peng R, Georgiou K, Wu C, Falk Sörqvist E, Berglund M, et al
The Journal of experimental medicine 2013;210(9):1729-42

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment
Engman M, Varghese S, Lagerstedt Robinson K, Malmgren H, Hammarsjö A, Byström B, et al
PloS one 2013;8(12):e80114-

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
Bisschoff Ij, Zeschnigk C, Horn D, Wellek B, Riess A, Wessels M, et al
HUMAN MUTATION 2013;34(1):237-47

Partial tetrasomy 14 associated with multiple malformations
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, et al
American journal of medical genetics. Part A 2013;161A(6):1284-90

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
Carlsson G, Fasth A, Berglof E, Lagerstedt-robinson K, Nordenskjold M, Palmblad J, et al
BRITISH JOURNAL OF HAEMATOLOGY 2012;158(3):363-9

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
Barbaro M, Cook J, Lagerstedt-robinson K, Wedell A
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY 2012;:504904-

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia
Aminoff A, Gunnar E, Barbaro M, Mannila Mn, Duponchel C, Tosi M, et al
CLINICAL GENETICS 2012;82(2):197-200

Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J, Gustavsson P, Lagerstedt-robinson K, Blennow E, Lundin J, Iwarsson E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(9):2277-86

Leiden Open Variation Database of the MUTYH Gene
Out Aa, Tops Cmj, Nielsen M, Weiss Mm, Van Minderhout Ijhm, Fokkema Ifac, et al
HUMAN MUTATION 2010;31(11):1205-15

Mutational study of the MAMLD1-gene in hypospadias
Chen Yg, Thai Htt, Lundin J, Lagerstedt-robinson K, Zhao St, Markljung E, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2010;53(3):122-6

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
Hoornaert Kp, Vereecke I, Dewinter C, Rosenberg T, Beemer Fa, Leroy Jg, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2010;18(8):872-80

Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy
Lunden L, Boxhammer S, Carlsson G, Ellstrom Kg, Nordenskjold M, Lagerstedt-robinson K, et al
BRITISH JOURNAL OF HAEMATOLOGY 2009;147(4):587-90

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis
Hammar B, Bjorck E, Lind H, Lagerstedt K, Dellby A, Fagerholm P
ACTA OPHTHALMOLOGICA 2009;87(6):659-65

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Lagerstedt-robinson K, Svenningsson A, Nordenskjold A
JOURNAL OF HUMAN GENETICS 2009;54(12):706-8

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
Svenningsson A, Lagerstedt K, Omrani Md, Nordenskjold A
JOURNAL OF PEDIATRIC SURGERY 2008;43(3):443-6

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
Clendenning M, Senter L, Hampel H, Robinson Kl, Sun S, Buchanan D, et al
JOURNAL OF MEDICAL GENETICS 2008;45(6):340-5

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P
ACTA OPHTHALMOLOGICA 2008;86(7):758-63

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Thai Htt, Soderhall C, Lagerstedt K, Omrani Md, Frisen L, Lundin J, et al
HUMAN GENETICS 2008;124(2):155-60

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
Wincent J, Holmberg E, Stromland K, Soller M, Mirzaei L, Djureinovic T, et al
CLINICAL GENETICS 2008;74(1):31-8

Concurrent microdeletion and duplication of 22q11.2
Blennow E, Lagerstedt K, Malmgren H, Sahlen S, Schoumans J, Anderlid Bm
CLINICAL GENETICS 2008;74(1):61-7

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter Jd, et al
GASTROENTEROLOGY 2008;135(2):419-28

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
Beleza-meireles A, Lundberg F, Lagerstedt K, Zhou Xl, Omrani D, Frisen L, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2007;15(4):405-10

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
Robinson Kl, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, et al
JOURNAL OF THE NATIONAL CANCER INSTITUTE 2007;99(4):291-9

Polymorphisms of estrogen receptor beta gene are associated with hypospadias
Beleza-meireles A, Omrani D, Kockum I, Frisen L, Lagerstedt K, Nordenskjold A
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION 2006;29(1):5-10

Somatic BRAF-V600E mutations in familial colorectal cancer
Vandrovcova J, Lagerstedt-robinsson K, Pahlman L, Lindblom A
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION 2006;15(11):2270-3

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer
Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M
FAMILIAL CANCER 2006;5(4):353-8

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer
Halvarsson B, Lindblom A, Johansson L, Lagerstedt K, Nilbert M
MODERN PATHOLOGY 2005;18(8):1095-101

The BRCA1 exon 13 duplication in the Swedish population
Kremeyer B, Soller M, Lagerstedt K, Maguire P, Mazoyer S, Nordling M, et al
FAMILIAL CANCER 2005;4(2):191-4

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias
Thai Htt, Kalbasi M, Lagerstedt K, Frisen L, Kockum I, Nordenskjold A
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2005;90(12):6695-8

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status
Oliveira C, Westra Jl, Arango D, Ollikainen M, Domingo E, Ferreira A, et al
HUMAN MOLECULAR GENETICS 2004;13(19):2303-11

Inherited recurrent corneal erosions - a large family with an autosomal dominant inherited disorder
Fagerholm P, Hammar B, Bjorck E, Dellby A, Lagerstedt K, Nordenskjold M
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2004;:U571-U571

Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?
Halvarsson B, Lindblom A, Rambech E, Lagerstedt K, Nilbert M
VIRCHOWS ARCHIV 2004;444(2):135-41

Recurrent corneal erosions - studies of an autosomal dominant inherited corneal dystrophy
Hammar B, Lind H, Bjorck E, Lagerstedt K, Dellby A, Nordenskjold M, et al
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2004;:U571-U571

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
Frisen L, Lagerstedt K, Tapper-persson M, Kockum I, Nordenskjold A
JOURNAL OF MEDICAL GENETICS 2003;40(4):e49-

Identification of a 40 kb deletion in 3q23 causing the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).
Lagerstedt K, Anneren G, Jagell S, Crisponi L, Pilia G, Bondeson Ml
AMERICAN JOURNAL OF HUMAN GENETICS 2001;69(4):644-644

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene
Lagerstedt K, Carlberg Bm, Karimi-nejad R, Kleijer Wj, Bondeson Ml
HUMAN MUTATION 2000;15(4):324-31

Identification of a deletion in 3q23 causing the Blepharophimosis, Ptosis and Epicantus inversus Syndrome (BPES).
Bondeson Ml, Lagerstedt K, Anneren G, Jagell S, Zech L
AMERICAN JOURNAL OF HUMAN GENETICS 2000;67(4):386-386

Identification of complex genetic rearrangements in the iduronate-2-sulfatase (IDS) gene causing the Hunter syndrome (MPSII).
Bondeson Ml, Karsten Sl, Carlberg Bm, Kleijer Wj, Lagerstedt K
AMERICAN JOURNAL OF HUMAN GENETICS 1999;65(4):A285-A285

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Lagerstedt K, Karsten Sl, Carlberg Bm, Kleijer Wj, Tonnesen T, Pettersson U, et al
HUMAN MOLECULAR GENETICS 1997;6(4):627-33

Homologous- and nonhomologous recombinations in the IDS region common causes of the Hunter syndrome
Bondeson Ml, Lagerstedt K, Karsten Sl, Carlberg Bm, Pettersson U
AMERICAN JOURNAL OF HUMAN GENETICS 1997;61(4):A249-A249

Molecular and phenotypic variation in patients with severe Hunter syndrome
Timms Km, Bondeson Ml, Ansarilari Ma, Lagerstedt K, Muzny Dm, Duganrocha Sp, et al
HUMAN MOLECULAR GENETICS 1997;6(3):479-86

Two distinct deletions in the IDS gene and the gene W: A novel type of mutation associated with the Hunter syndrome
Karsten Sl, Lagerstedt K, Carlberg Bm, Kleijer Wj, Zaremba J, Vandiggelen Op, et al
GENOMICS 1997;43(2):123-9

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