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Items: 29

1.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D.

Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1.

2.

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series.

Andréasson M, Lagerstedt-Robinson K, Samuelsson K, Solders G, Blennow K, Paucar M, Svenningsson P.

Neurol Genet. 2019 Jun 12;5(4):e344. doi: 10.1212/NXG.0000000000000344. eCollection 2019 Aug.

3.

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.

Wallander K, Liu W, von Holst S, Thutkawkorapin J, Kontham V, Forsberg A, Lindblom A, Lagerstedt-Robinson K.

Genes Chromosomes Cancer. 2019 Nov;58(11):775-782. doi: 10.1002/gcc.22786. Epub 2019 Aug 7.

4.

Parafibromin immunostainings of parathyroid tumors in clinical routine: a near-decade experience from a tertiary center.

Juhlin CC, Nilsson IL, Lagerstedt-Robinson K, Stenman A, Bränström R, Tham E, Höög A.

Mod Pathol. 2019 Jul;32(8):1082-1094. doi: 10.1038/s41379-019-0252-6. Epub 2019 Mar 28.

PMID:
30923346
5.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

6.

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M.

Cancer Epidemiol Biomarkers Prev. 2019 Jun;28(6):1010-1014. doi: 10.1158/1055-9965.EPI-18-0576. Epub 2019 Mar 1.

PMID:
30824524
7.

Testing strategies to reduce morbidity and mortality from Lynch syndrome.

Keränen A, Ghazi S, Carlson J, Papadogiannakis N, Lagerstedt-Robinson K, Lindblom A.

Scand J Gastroenterol. 2018 Dec;53(12):1535-1540. doi: 10.1080/00365521.2018.1542453. Epub 2018 Dec 20.

PMID:
30572730
8.

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.

Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E.

Hered Cancer Clin Pract. 2018 Oct 23;16:16. doi: 10.1186/s13053-018-0098-9. eCollection 2018.

9.

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

Kvarnung M, Taylan F, Nilsson D, Anderlid BM, Malmgren H, Lagerstedt-Robinson K, Holmberg E, Burstedt M, Nordenskjöld M, Nordgren A, Lundberg ES.

Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15.

PMID:
30221345
10.

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.

Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P.

Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. No abstract available.

11.

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.

Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K.

Dev Med Child Neurol. 2018 Dec;60(12):1251-1255. doi: 10.1111/dmcn.13939. Epub 2018 Jun 28.

12.

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

von Salomé J, Liu T, Keihäs M, Morak M, Holinski-Feder E, Berry IR, Moilanen JS, Baert-Desurmont S, Lindblom A, Lagerstedt-Robinson K.

Fam Cancer. 2018 Oct;17(4):531-537. doi: 10.1007/s10689-017-0067-x.

13.

Genetic anticipation in Swedish Lynch syndrome families.

von Salomé J, Boonstra PS, Karimi M, Silander G, Stenmark-Askmalm M, Gebre-Medhin S, Aravidis C, Nilbert M, Lindblom A, Lagerstedt-Robinson K.

PLoS Genet. 2017 Oct 31;13(10):e1007012. doi: 10.1371/journal.pgen.1007012. eCollection 2017 Oct.

14.

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K, Rohlin A, Aravidis C, Melin B, Nordling M, Stenmark-Askmalm M, Lindblom A, Nilbert M.

Oncol Rep. 2016 Nov;36(5):2823-2835. doi: 10.3892/or.2016.5060. Epub 2016 Sep 1.

15.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT.

Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1.

16.

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, Nordenskjöld M, Nishimura G, Grigelioniene G.

Am J Med Genet A. 2016 Jan;170A(1):266-9. doi: 10.1002/ajmg.a.37387. Epub 2015 Sep 30. No abstract available.

PMID:
26420734
17.

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, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G.

Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13.

18.

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, Lalitkumar PG, Gemzell-Danielsson K.

PLoS One. 2013 Dec 4;8(12):e80114. doi: 10.1371/journal.pone.0080114. eCollection 2013.

19.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A.

J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.

PMID:
24203977
20.

A case with bladder exstrophy and unbalanced X chromosome rearrangement.

Soderhall C, Lundin J, Lagerstedt-Robinson K, Grigelioniene G, Lackgren G, Kockum CC, Nordenskjold A.

Eur J Pediatr Surg. 2014 Aug;24(4):353-9. doi: 10.1055/s-0033-1349056. Epub 2013 Jun 25.

PMID:
23801353
21.

Partial tetrasomy 14 associated with multiple malformations.

Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P.

Am J Med Genet A. 2013 Jun;161A(6):1284-90. doi: 10.1002/ajmg.a.35887. Epub 2013 Apr 23.

PMID:
23613323
22.

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.

Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, Henter JI, Fadeel B.

Br J Haematol. 2012 Aug;158(3):363-9. doi: 10.1111/j.1365-2141.2012.09171.x. Epub 2012 May 25.

PMID:
22624626
23.

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.

Int J Endocrinol. 2012;2012:504904. doi: 10.1155/2012/504904. Epub 2012 Feb 28.

24.

Chimerism resulting from parthenogenetic activation and dispermic fertilization.

Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenström A, Anderlid BM, Bondeson ML, Nordenskjöld A, Nordgren A.

Am J Med Genet A. 2010 Sep;152A(9):2277-86. doi: 10.1002/ajmg.a.33594.

PMID:
20803645
25.

Leiden Open Variation Database of the MUTYH gene.

Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ.

Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343.

PMID:
20725929
26.

Mutational study of the MAMLD1-gene in hypospadias.

Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A.

Eur J Med Genet. 2010 May-Jun;53(3):122-6. doi: 10.1016/j.ejmg.2010.03.005. Epub 2010 Mar 25.

PMID:
20347055
27.

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis.

Lagerstedt-Robinson K, Svenningsson A, Nordenskjöld A.

J Hum Genet. 2009 Dec;54(12):706-8. doi: 10.1038/jhg.2009.101. Epub 2009 Oct 23.

PMID:
19851341
28.

Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.

Lundén L, Boxhammer S, Carlsson G, Ellström KG, Nordenskjöld M, Lagerstedt-Robinson K, Fadeel B.

Br J Haematol. 2009 Nov;147(4):587-90. doi: 10.1111/j.1365-2141.2009.07866.x. Epub 2009 Aug 19. No abstract available.

PMID:
19694719
29.

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

PMID:
17312306

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