Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

Anna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, Maria Pettersson, Wolfgang Hofmeister, Britt-Marie Anderlid, Sarina G. Kant, Claudia A. L. Ruivenkamp, Peter Gustavsson, Helena Valta, Stefan Geiberger, Alexandra Topa, Kristina Lagerstedt-Robinson, Fulya Taylan, Josephine Wincent, Tobias Laurell, Minna Pekkinen, Magnus Nordenskjold, Outi Makitie, Ann Nordgren

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftJournal of Medical Genetics
Volym51
Utgåva1
Sidor (från-till)45-54
Antal sidor10
ISSN0022-2593
DOI
StatusPublicerad - jan 2014
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3111 Biomedicinska vetenskaper

Citera det här

Lindstrand, A., Grigelioniene, G., Nilsson, D., Pettersson, M., Hofmeister, W., Anderlid, B-M., ... Nordgren, A. (2014). Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Journal of Medical Genetics, 51(1), 45-54. https://doi.org/10.1136/jmedgenet-2013-101937
Lindstrand, Anna ; Grigelioniene, Giedre ; Nilsson, Daniel ; Pettersson, Maria ; Hofmeister, Wolfgang ; Anderlid, Britt-Marie ; Kant, Sarina G. ; Ruivenkamp, Claudia A. L. ; Gustavsson, Peter ; Valta, Helena ; Geiberger, Stefan ; Topa, Alexandra ; Lagerstedt-Robinson, Kristina ; Taylan, Fulya ; Wincent, Josephine ; Laurell, Tobias ; Pekkinen, Minna ; Nordenskjold, Magnus ; Makitie, Outi ; Nordgren, Ann. / Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. I: Journal of Medical Genetics. 2014 ; Vol. 51, Nr. 1. s. 45-54.
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title = "Different mutations in PDE4D associated with developmental disorders with mirror phenotypes",
keywords = "Clinical Genetics, Copy-Number, Developmental, Other Neurology, Other Endocrinology, REFERENCE VALUES, ACRODYSOSTOSIS, DELINEATION, DEFICIENCY, GENE, 3111 Biomedicine",
author = "Anna Lindstrand and Giedre Grigelioniene and Daniel Nilsson and Maria Pettersson and Wolfgang Hofmeister and Britt-Marie Anderlid and Kant, {Sarina G.} and Ruivenkamp, {Claudia A. L.} and Peter Gustavsson and Helena Valta and Stefan Geiberger and Alexandra Topa and Kristina Lagerstedt-Robinson and Fulya Taylan and Josephine Wincent and Tobias Laurell and Minna Pekkinen and Magnus Nordenskjold and Outi Makitie and Ann Nordgren",
year = "2014",
month = "1",
doi = "10.1136/jmedgenet-2013-101937",
language = "English",
volume = "51",
pages = "45--54",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group Ltd",
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Lindstrand, A, Grigelioniene, G, Nilsson, D, Pettersson, M, Hofmeister, W, Anderlid, B-M, Kant, SG, Ruivenkamp, CAL, Gustavsson, P, Valta, H, Geiberger, S, Topa, A, Lagerstedt-Robinson, K, Taylan, F, Wincent, J, Laurell, T, Pekkinen, M, Nordenskjold, M, Makitie, O & Nordgren, A 2014, 'Different mutations in PDE4D associated with developmental disorders with mirror phenotypes', Journal of Medical Genetics, vol. 51, nr. 1, s. 45-54. https://doi.org/10.1136/jmedgenet-2013-101937

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. / Lindstrand, Anna; Grigelioniene, Giedre; Nilsson, Daniel; Pettersson, Maria; Hofmeister, Wolfgang; Anderlid, Britt-Marie; Kant, Sarina G.; Ruivenkamp, Claudia A. L.; Gustavsson, Peter; Valta, Helena; Geiberger, Stefan; Topa, Alexandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya; Wincent, Josephine; Laurell, Tobias; Pekkinen, Minna; Nordenskjold, Magnus; Makitie, Outi; Nordgren, Ann.

I: Journal of Medical Genetics, Vol. 51, Nr. 1, 01.2014, s. 45-54.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

AU - Lindstrand, Anna

AU - Grigelioniene, Giedre

AU - Nilsson, Daniel

AU - Pettersson, Maria

AU - Hofmeister, Wolfgang

AU - Anderlid, Britt-Marie

AU - Kant, Sarina G.

AU - Ruivenkamp, Claudia A. L.

AU - Gustavsson, Peter

AU - Valta, Helena

AU - Geiberger, Stefan

AU - Topa, Alexandra

AU - Lagerstedt-Robinson, Kristina

AU - Taylan, Fulya

AU - Wincent, Josephine

AU - Laurell, Tobias

AU - Pekkinen, Minna

AU - Nordenskjold, Magnus

AU - Makitie, Outi

AU - Nordgren, Ann

PY - 2014/1

Y1 - 2014/1

KW - Clinical Genetics

KW - Copy-Number

KW - Developmental

KW - Other Neurology

KW - Other Endocrinology

KW - REFERENCE VALUES

KW - ACRODYSOSTOSIS

KW - DELINEATION

KW - DEFICIENCY

KW - GENE

KW - 3111 Biomedicine

U2 - 10.1136/jmedgenet-2013-101937

DO - 10.1136/jmedgenet-2013-101937

M3 - Article

VL - 51

SP - 45

EP - 54

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 1

ER -

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid B-M et al. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Journal of Medical Genetics. 2014 jan;51(1):45-54. https://doi.org/10.1136/jmedgenet-2013-101937