Maja Ficko
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Maja Ficko has a total of 6 co-authors. Here are the top co-authors by number of shared publications:
- Jera Stritar
Clinical Institute of Special Laboratory Diagnostics, University Children’s Hospital, UMC, 1000 Ljubljana, Slovenia
1 shared publication - Katarina Trebušak Podkrajšek
Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
1 shared publication - Lana Stavber
Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, UMC, 1000 Ljubljana, Slovenia
1 shared publication - Primož Kotnik
Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, 1000 Ljubljana, Slovenia
1 shared publication - Tadej Battelino
University Medical Center Ljubljana, and Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
1 shared publication - Tinka Hovnik
Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, UMC, 1000 Ljubljana, Slovenia
1 shared publication
Latest Publications
- Open Access
Detection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2–15% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations.
Open AccessDetection of Del/Dup Inside SHOX/PAR1 Region in Children and Young Adults with Idiopathic Short Stature
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2–15% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations.