A5057231372- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Ubiquitin and proteasome pathways
- CRISPR and Genetic Engineering
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Neonatal and Maternal Infections
- Microtubule and mitosis dynamics
- Spinal Dysraphism and Malformations
- Cancer-related gene regulation
- RNA regulation and disease
- Prenatal Screening and Diagnostics
- Cerebrospinal fluid and hydrocephalus
- Neonatal Respiratory Health Research
- dental development and anomalies
- Vestibular and auditory disorders
- Nursing education and management
- Axon Guidance and Neuronal Signaling
- Congenital Ear and Nasal Anomalies
University of Turku
2009-2024
Turku University Hospital
2016-2024
Varsinais-Suomen Sairaanhoitopiiri
2016
Abstract The 3p deletion syndrome is a rare disorder caused by deletions of different sizes in the 3p25‐pter region. It characterized growth retardation, developmental delay, mental dysmorphism, microcephaly, and ptosis. phenotype individuals with varies from normal to severe. Most cases occur de novo, but few familial have been reported. We describe two families terminal extremely variable clinical features. In family A, mother daughter were mildly affected whereas son had more severe B,...
Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both presentation location pathogenic variant gene. This division is complicated by significant overlap between syndromes. Here we describe patient with characteristics different TP63-associated...
We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by
Abstract The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality the NSD1 gene. We investigated dental this disorder found one or several premolar teeth were absent 9 out 13 (69%) affected children adolescents. A heterozygous mutation gene was identified 12 patients, including all with hypodontia. severity...
Apolipoprotein E plays an important role in neurodegenerative processes adulthood, whereas its neurodevelopmental is uncertain. We aimed to study the effect of apolipoprotein on neurodevelopment a cohort liable changes. The consisted very preterm (<32 gestational weeks) and/or low birth weight (<1500 g) children, and longitudinal follow‐up protocol included sequential cranial ultrasounds during infancy, brain magnetic resonance imaging at term‐equivalent age, neurological cognitive...
Abstract We have analyzed the histopathological, clinical, and genetic characteristics in hereditary breast ovarian cancer patients of counselled families from 1996 up to today southwestern Finland population. In this study we incidence different BRCA1 BRCA2 pathogenic variants (PV). 1211 were evaluated, classified as 38 families, 48 689 non- BRCA 436 other (criteria for testing was not met). those consisted 44 and/or patients, 58 602 328 patients. Breast mean onset 4.6 years earlier...
Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50–60% congenital cases. The transmembrane channel-like protein 1 (TMC1) gene has been linked autosomal recessive (DFNB7/11) dominant (DFNA36) non-syndromic loss, it a relatively cause SNHL. Here, we report eight Finnish families with 11 affected family members either recessively inherited homozygous or compound heterozygous TMC1 variants associated...
To examine the clinical and genetic characteristics of childhood-onset bilateral sensorineural hearing loss (SNHL) in Finland.
Abstract Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual motor disability, namely a previously undescribed missense mutation MECP2.
It is often the case that genetic background of a rare disease has been solved, but testing clinical patient can be performed only through research projects. Translating research-based test into diagnostic service may also appear laborious and costly. Based on our molecular genetics Sotos syndrome, we developed laboratory both effective relatively inexpensive.Pilot was with samples clinically diagnosed cases (n=13), continued patients who were suspected having syndrome (n=161). The methods...