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Items: 1 to 50 of 306

1.

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A.

Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019.

2.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

3.

Cell-free tumour DNA testing for early detection of cancer - a potential future tool.

Barbany G, Arthur C, Liedén A, Nordenskjöld M, Rosenquist R, Tesi B, Wallander K, Tham E.

J Intern Med. 2019 Aug;286(2):118-136. doi: 10.1111/joim.12897. Epub 2019 Apr 8. Review.

PMID:
30861222
4.

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

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

5.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T.

Nat Med. 2019 Apr;25(4):583-590. doi: 10.1038/s41591-019-0353-2. Epub 2019 Feb 25.

6.

Haploinsufficiency of UNC13D increases the risk of lymphoma.

Löfstedt A, Ahlm C, Tesi B, Bergdahl IA, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.

Cancer. 2019 Jun 1;125(11):1848-1854. doi: 10.1002/cncr.32011. Epub 2019 Feb 13.

7.

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E, Gréen A, Gustavsson P, Liedén A, Nordenskjöld M, Papadogiannakis N, Pettersson K, Nilsson D, Jonasson J, Iwarsson E.

PLoS One. 2019 Jan 7;14(1):e0210017. doi: 10.1371/journal.pone.0210017. eCollection 2019.

8.

Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis.

Asad S, Tapia-Páez I, Montano Montes A, Wahlgren CF, Bilcha KD, Nordenskjöld M, Bradley M.

Acta Derm Venereol. 2019 Jan 1;99(1):101-102. doi: 10.2340/00015555-3051. No abstract available.

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.

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Tran AN, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, Lötstedt B, Nordenskjöld M, Nordgren A, Nilsson D, Barbany G.

PLoS One. 2018 Mar 12;13(3):e0193928. doi: 10.1371/journal.pone.0193928. eCollection 2018.

11.

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

Paucar M, Bergendal Å, Gustavsson P, Nordenskjöld M, Laffita-Mesa J, Savitcheva I, Svenningsson P.

Cerebellum. 2018 Aug;17(4):465-476. doi: 10.1007/s12311-018-0927-4.

12.

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT.

J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. No abstract available.

13.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

14.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

Khare S, Nick JA, Zhang Y, Galeano K, Butler B, Khoshbouei H, Rayaprolu S, Hathorn T, Ranum LPW, Smithson L, Golde TE, Paucar M, Morse R, Raff M, Simon J, Nordenskjöld M, Wirdefeldt K, Rincon-Limas DE, Lewis J, Kaczmarek LK, Fernandez-Funez P, Nick HS, Waters MF.

PLoS One. 2017 May 3;12(5):e0173565. doi: 10.1371/journal.pone.0173565. eCollection 2017.

15.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

16.

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

Fernandez K, Asad S, Taylan F, Wahlgren CF, Bilcha KD, Nordenskjöld M, Winge MCG, Bradley M.

Pediatr Dermatol. 2017 May;34(3):e140-e141. doi: 10.1111/pde.13095. Epub 2017 Mar 10.

PMID:
28295514
17.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

18.

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A.

Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5.

19.

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

Asad S, Winge MC, Wahlgren CF, Bilcha KD, Nordenskjöld M, Taylan F, Bradley M.

J Eur Acad Dermatol Venereol. 2016 Nov;30(11):1939-1941. doi: 10.1111/jdv.13806. Epub 2016 Aug 31.

PMID:
27581203
20.

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

Georgsson S, Sahlin E, Iwarsson M, Nordenskjöld M, Gustavsson P, Iwarsson E.

J Genet Couns. 2017 Jun;26(3):447-454. doi: 10.1007/s10897-016-9997-y. Epub 2016 Aug 2.

21.

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Sahlin E, Nordenskjöld M, Gustavsson P, Wincent J, Georgsson S, Iwarsson E.

PLoS One. 2016 May 19;11(5):e0156088. doi: 10.1371/journal.pone.0156088. eCollection 2016.

22.

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

Ivanov Öfverholm I, Tran AN, Olsson L, Zachariadis V, Heyman M, Rudd E, Syk Lundberg E, Nordenskjöld M, Johansson B, Nordgren A, Barbany G.

Leuk Lymphoma. 2016 Sep;57(9):2161-70. doi: 10.3109/10428194.2015.1136740. Epub 2016 Apr 19.

PMID:
27090575
23.

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas.

Georgiou K, Chen L, Berglund M, Ren W, de Miranda NF, Lisboa S, Fangazio M, Zhu S, Hou Y, Wu K, Fang W, Wang X, Meng B, Zhang L, Zeng Y, Bhagat G, Nordenskjöld M, Sundström C, Enblad G, Dalla-Favera R, Zhang H, Teixeira MR, Pasqualucci L, Peng R, Pan-Hammarström Q.

Blood. 2016 Jun 16;127(24):3026-34. doi: 10.1182/blood-2015-12-686550. Epub 2016 Mar 30.

PMID:
27030389
24.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.

Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.

25.

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.

26.

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
27.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi B, Chiang SC, El-Ghoneimy D, Hussein AA, Langenskiöld C, Wali R, Fadoo Z, Silva JP, Lecumberri R, Unal S, Nordenskjöld M, Bryceson YT, Henter JI, Meeths M.

Pediatr Blood Cancer. 2015 Dec;62(12):2094-100. doi: 10.1002/pbc.25646. Epub 2015 Jul 16.

PMID:
26184781
28.

Disruption of tubular Flcn expression as a mouse model for renal tumor induction.

Chen J, Huang D, Rubera I, Futami K, Wang P, Zickert P, Khoo SK, Dykema K, Zhao P, Petillo D, Cao B, Zhang Z, Si S, Schoen SR, Yang XJ, Zhou M, Xiao GQ, Wu G, Nordenskjöld M, Tauc M, Williams BO, Furge KA, Teh BT.

Kidney Int. 2015 Nov;88(5):1057-69. doi: 10.1038/ki.2015.177. Epub 2015 Jun 17.

PMID:
26083655
29.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F, Nilsson D, Asad S, Lieden A, Wahlgren CF, Winge MC, Bilcha KD, Nordenskjöld M, Bradley M.

J Allergy Clin Immunol. 2015 Aug;136(2):507-9.e19. doi: 10.1016/j.jaci.2015.02.010. Epub 2015 Mar 26. No abstract available.

PMID:
25819062
30.

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

Esparza-Gordillo J, Matanovic A, Marenholz I, Bauerfeind A, Rohde K, Nemat K, Lee-Kirsch MA, Nordenskjöld M, Winge MC, Keil T, Krüger R, Lau S, Beyer K, Kalb B, Niggemann B, Hübner N, Cordell HJ, Bradley M, Lee YA.

PLoS Genet. 2015 Mar 10;11(3):e1005076. doi: 10.1371/journal.pgen.1005076. eCollection 2015 Mar.

31.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E.

Clin Genet. 2016 Jan;89(1):99-103. doi: 10.1111/cge.12565. Epub 2015 Mar 4.

PMID:
25677735
32.

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Tesi B, Sieni E, Neves C, Romano F, Cetica V, Cordeiro AI, Chiang S, Schlums H, Galli L, Avenali S, Tondo A, Canessa C, Henter JI, Nordenskjöld M, Hsu AP, Holland SM, Neves JF, Azzari C, Bryceson YT.

J Allergy Clin Immunol. 2015 Jun;135(6):1638-41. doi: 10.1016/j.jaci.2014.11.030. Epub 2015 Jan 13. No abstract available.

PMID:
25592983
33.

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

Karlsson K, Sahlin E, Iwarsson E, Westgren M, Nordenskjöld M, Linnarsson S.

Genomics. 2015 Mar;105(3):150-8. doi: 10.1016/j.ygeno.2014.12.005. Epub 2014 Dec 24.

34.

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A.

J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3.

PMID:
25473103
35.

Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor.

Lim ML, Ooi BN, Jungebluth P, Sjöqvist S, Hultman I, Lemon G, Gustafsson Y, Asmundsson J, Baiguera S, Douagi I, Gilevich I, Popova A, Haag JC, Rodríguez AB, Lim J, Liedén A, Nordenskjöld M, Alici E, Baker D, Unger C, Luedde T, Vassiliev I, Inzunza J, Ahrlund-Richter L, Macchiarini P.

PLoS One. 2014 Sep 17;9(9):e107712. doi: 10.1371/journal.pone.0107712. eCollection 2014.

36.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M.

Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

37.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G.

Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8. No abstract available.

PMID:
25060605
38.

Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.

Sahlin E, Gustavsson P, Liedén A, Papadogiannakis N, Bjäreborn L, Pettersson K, Nordenskjöld M, Iwarsson E.

Fetal Diagn Ther. 2014;36(4):326-32. doi: 10.1159/000361017. Epub 2014 Jul 19.

PMID:
25059832
39.

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT.

J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29. No abstract available.

PMID:
24882743
40.

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

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.

Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26. Review.

PMID:
24677493
41.

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A.

Clin Genet. 2015 Mar;87(3):273-8. doi: 10.1111/cge.12371. Epub 2014 Apr 1.

PMID:
24598000
42.

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment.

Rodin S, Antonsson L, Niaudet C, Simonson OE, Salmela E, Hansson EM, Domogatskaya A, Xiao Z, Damdimopoulou P, Sheikhi M, Inzunza J, Nilsson AS, Baker D, Kuiper R, Sun Y, Blennow E, Nordenskjöld M, Grinnemo KH, Kere J, Betsholtz C, Hovatta O, Tryggvason K.

Nat Commun. 2014;5:3195. doi: 10.1038/ncomms4195.

PMID:
24463987
43.

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller ML, Chiang SC, Meeths M, Tesi B, Entesarian M, Nilsson D, Wood SM, Nordenskjöld M, Henter JI, Naqvi A, Bryceson YT.

Front Immunol. 2014 Jan 14;4:515. doi: 10.3389/fimmu.2013.00515. eCollection 2014 Jan 14.

44.

Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype.

Hoppe T, Winge MC, Bradley M, Nordenskjöld M, Vahlquist A, Törmä H, Berne B.

J Eur Acad Dermatol Venereol. 2015 Jan;29(1):174-7. doi: 10.1111/jdv.12333. Epub 2013 Dec 12.

PMID:
24330146
45.

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
46.

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Weidinger S, Willis-Owen SA, Kamatani Y, Baurecht H, Morar N, Liang L, Edser P, Street T, Rodriguez E, O'Regan GM, Beattie P, Fölster-Holst R, Franke A, Novak N, Fahy CM, Winge MC, Kabesch M, Illig T, Heath S, Söderhäll C, Melén E, Pershagen G, Kere J, Bradley M, Lieden A, Nordenskjold M, Harper JI, McLean WH, Brown SJ, Cookson WO, Lathrop GM, Irvine AD, Moffatt MF.

Hum Mol Genet. 2013 Dec 1;22(23):4841-56. doi: 10.1093/hmg/ddt317. Epub 2013 Jul 25.

47.

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.

Zachariadis V, Schoumans J, Ofverholm I, Barbany G, Halvardsson E, Forestier E, Johansson B, Nordenskjöld M, Nordgren A.

Leukemia. 2014 Jan;28(1):196-8. doi: 10.1038/leu.2013.189. Epub 2013 Jun 21. No abstract available.

PMID:
23787394
48.

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

Entesarian M, Chiang SC, Schlums H, Meeths M, Chan MY, Mya SN, Soh SY, Nordenskjöld M, Henter JI, Bryceson YT.

Br J Haematol. 2013 Aug;162(3):415-8. doi: 10.1111/bjh.12371. Epub 2013 May 14. No abstract available.

PMID:
23672263
49.

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A.

J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.

PMID:
23636107
50.

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols.

Ofverholm I, Tran AN, Heyman M, Zachariadis V, Nordenskjöld M, Nordgren A, Barbany G.

Leukemia. 2013 Sep;27(9):1936-9. doi: 10.1038/leu.2013.92. Epub 2013 Mar 29. No abstract available.

PMID:
23538749

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