Publications by authors named "Birgit Carlsson"

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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.
Miriam Entesarian, Birgit Carlsson, Mahmoud Reza Mansouri, Eva-Lena Stattin, Eva Holmberg

Am J Med Genet A· March 2009

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Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
Mahmoud Reza Mansouri, Jens Schuster, Jitendra Badhai, Eva-Lena Stattin, Ralf Lösel, Birgit Carlsson

Hum Mol Genet· December 2008

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Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.
Mahmoud Reza Mansouri, Birgit Carlsson, Edward Davey, Agneta Nordenskjöld, Tomas Wester

Hum Genet· March 2006

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RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
Joakim Klar, Bengt Asling, Birgit Carlsson, Magnus Ulvsbäck, Anita Dellsén

Eur J Hum Genet· August 2005

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Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
Mahmoud Reza Mansouri, Lena Marklund, Peter Gustavsson, Edward Davey, Birgit Carlsson

Eur J Hum Genet· August 2005

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A candidate region for Asperger syndrome defined by two 17p breakpoints.
Dmitry Tentler, Tonnie Johannesson, Maria Johansson, Maria Råstam, Christopher Gillberg, Birgit Carlsson

Eur J Hum Genet· February 2003

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