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Author/Creator Pettersson, Maria

1. Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Issue 10 (22nd August 2018)

Authors:
Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M.B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna
Journal:
Human mutation
Issue:
Volume 39:Issue 10(2018)
Page Start:
1456
Record Type:
Journal Article
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4. Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy. Issue 2 (8th November 2022)

Authors:
Nordenskjöld, Agneta; Arkani, Samara; Pettersson, Maria; Winberg, Johanna; Cao, Jia; Fossum, Magdalena; Anderberg, Magnus; Barker, Gillian; Holmdahl, Gundela; Lundin, Johanna
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
378
Record Type:
Journal Article
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5. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Issue 11 (1st October 2020)

Authors:
Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstr...
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1979
Record Type:
Journal Article
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6. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Issue 1 (7th November 2013)

Authors:
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, Josephin...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
45
Record Type:
Journal Article
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8. Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity. Issue 5 (20th March 2017)

Authors:
Pettersson, Maria; Bergendal, Birgitta; Norderyd, Johanna; Nilsson, Daniel; Anderlid, Britt‐Marie; Nordgren, Ann; Lindstrand, Anna
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1396
Record Type:
Journal Article
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9. Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Issue 5 (14th May 2014)

Authors:
Laurell, Tobias; Nilsson, Daniel; Hofmeister, Wolfgang; Lindstrand, Anna; Ahituv, Nadav; Vandermeer, Julia; Amilon, Anders; Annerén, Göran; Arner, Marianne; Pettersson, Maria; Jäntti, Nina; Rosberg, Hans‐Eric; Cattini, Peter A.; Nordenskjöld, Agneta; Mäkitie, Outi; Grigelioniene, Giedre; Nordgren...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 5(2014:Sep.)
Page Start:
402
Record Type:
Journal Article
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