Publications for Tobias Laurell

Article

1 Frisk S, Wachtmeister A, Laurell T, Lindstrand A, Jäntti N, Malmgren H, Lagerstedt-Robinson K, Tesi B, Taylan F, Nordgren A. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Molecular genetics & genomic medicine 2022 10:4 e1880-

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Fulltext: https://doi.org/10.1002/mgg3.1880

2 Roginski M, Laurell T. [The pain killer bag - optimized pain treatment and reduced prescription of opioids after outpatient hand surgery]. Lakartidningen 2020 117:

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3 Frisk S, Taylan F, Blaszczyk I, Nennesmo I, Annerén G, Herm B, Stattin EL, Zachariadis V, Lindstrand A, Tesi B, Laurell T, Nordgren A. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Clinical genetics 2019 96:2 118-125

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Fulltext: https://doi.org/10.1111/cge.13543

4 Goodell PB, Bauer AS, Oishi S, Arner M, Laurell T, Taylor SL, James MA. Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation. The Journal of bone and joint surgery. American volume 2017 99:13 1119-1128

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Fulltext: https://doi.org/10.2106/JBJS.16.01283

5 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. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Journal of medical genetics 2014 51:1 45-54
6 Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification. The Journal of hand surgery 2014 39:2 237-48

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Fulltext: https://doi.org/10.1016/j.jhsa.2013.11.014

7 Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Molecular genetics & genomic medicine 2014 2:5 402-11

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Fulltext: https://doi.org/10.1002/mgg3.81

8 Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype. European journal of human genetics : EJHG 2013 21:10 1085-92

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Fulltext: https://doi.org/10.1038/ejhg.2012.306

9 Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Human mutation 2012 33:7 1063-6

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Fulltext: https://doi.org/10.1002/humu.22097

10 Ekblom AG, Laurell T, Arner M. Epidemiology of Congenital Upper Limb Anomalies in 562 Children Born in 1997 to 2007: A Total Population Study from Stockholm, Sweden. JOURNAL OF HAND SURGERY-AMERICAN VOLUME 2010 35A:11 1742-54

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Fulltext: https://doi.org/10.1016/j.jhsa.2010.07.007

Review

1 Dahlin L, Arner M, Fredrikson P, Laurell T, Paolo S, Wadström J, Wiberg M. [Hand transplantation in Sweden – preparations under way]. Lakartidningen 2017 114:

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Other

1 Frisk S, Grandpeix-Guyodo C, Popovic Silwerfeldt K, Hjartarson HT, Chatzianastassiou D, Magnusson I, Laurell T, Nordgren A. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clinical case reports 2018 6:11 2103-2110

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Fulltext: https://doi.org/10.1002/ccr3.1783