Birgit Carlsson
Overview
Explore the profile of Birgit Carlsson including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
142
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Recent Articles
1.
Entesarian M, Carlsson B, Mansouri M, Stattin E, Holmberg E, Golovleva I, et al.
Am J Med Genet A
. 2009 Feb;
149A(3):380-6.
PMID: 19213037
We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed...
2.
Mansouri M, Schuster J, Badhai J, Stattin E, Losel R, Wehling M, et al.
Hum Mol Genet
. 2008 Sep;
17(23):3776-83.
PMID: 18782852
Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous background but genetic factors are demonstrated by the occurrence...
3.
Mansouri M, Carlsson B, Davey E, Nordenskjold A, Wester T, Anneren G, et al.
Hum Genet
. 2006 Jan;
119(1-2):162-8.
PMID: 16395596
We report a young boy with penoscrotal hypospadias, anal atresia (AA) with a recto-urethral fistula, a hypoplastic kidney and a balanced translocation t(6;17)(p21.31;q11.2). Physical mapping of the breakpoints localized the...
4.
Mansouri M, Marklund L, Gustavsson P, Davey E, Carlsson B, Larsson C, et al.
Eur J Hum Genet
. 2005 May;
13(8):970-7.
PMID: 15915161
X-linked mental retardation (XLMR) affects one in 600 males and is highly heterogeneous. We describe here a 29-year-old woman with severe nonsyndromic mental retardation and a balanced reciprocal translocation between...
5.
Klar J, Asling B, Carlsson B, Ulvsback M, Dellsen A, Strom C, et al.
Eur J Hum Genet
. 2005 May;
13(8):928-34.
PMID: 15886715
We have identified a family comprising a mother and two children with idiopathic and profound obesity body mass index (BMI) 41-49 kg/m(2). The three family members carry a balanced reciprocal...
6.
Tentler D, Johannesson T, Johansson M, Rastam M, Gillberg C, Orsmark C, et al.
Eur J Hum Genet
. 2003 Mar;
11(2):189-95.
PMID: 12634868
Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with...