List of works - Minna Pöyhönen

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.

scientific article published in January 2017

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

scientific article

A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in Northern Finland.

scientific article published in December 2000

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

scientific article

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

scientific article published on 23 November 2017

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors.

scientific article published on 08 December 2016

CADASIL and CARASIL.

scientific article

CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells

scientific article

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

scientific article published on 01 November 2000

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

scientific article published on 31 October 2019

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.

scientific article published on 15 January 2018

Congenital pseudarthrosis of the tibia. Treatment and outcome at skeletal maturity in 10 children

scientific article published on 01 June 1999

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

scientific article published on 27 January 2009

Detection of the founder effect in Finnish CADASIL families

scientific article published in October 2004

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.

scientific article

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families

scientific article

Genetics of dementia in a Finnish cohort.

scientific article published on 23 February 2018

Haploinsufficiency of the NF1 gene is associated with protection against diabetes

scientific article published on 22 June 2020

Hereditary spinal neurofibromatosis: a rare form of NF1?

scientific article

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis.

scientific article published on 2 January 2018

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

scientific article published on 5 May 2011

Incidence and mortality of neurofibromatosis: a total population study in Finland

scientific article published on 29 October 2014

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

scientific article published on 30 July 2015

Large genomic rearrangements and germline epimutations in Lynch syndrome

scientific article published on 01 May 2009

Loss of SUFU function in familial multiple meningioma.

scientific article

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

scientific article published on 29 June 2006

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

article

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

scientific article published on 28 March 2017

Neurofibromatosis 1-related osteopenia often progresses to osteoporosis in 12 years.

scientific article published on 30 October 2012

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

scientific article

Neurofibromatosis type 1 of the child increases birth weight

scientific article published on 24 April 2019

Neurologic symptoms are common during gestation and puerperium in CADASIL.

scientific article published in April 2005

New function for NF1 tumor suppressor

scientific article published on 01 March 2000

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

scientific article published on 05 December 2019

Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

scientific article published on 26 March 2014

Occult neurofibroma and increased S100 protein in the skin of patients with neurofibromatosis type 1: new insight to the etiopathomechanism of neurofibromas

scientific article published on 01 October 2000

Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation

scientific article published on 23 April 2019

Pediatric malignancies in neurofibromatosis type 1: A population-based cohort study

scientific article published on 18 February 2019

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

scientific article published on 01 August 2001

Prevalence of neurofibromatosis type 1 in the Finnish population

scientific article published on 7 December 2017

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.

scientific article

Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.

scientific article published in May 2007

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population

scientific article published on 19 October 2016

Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.

scientific article

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

scientific article

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

scientific article published on 14 November 2016

The pregnancy in neurofibromatosis 1: A retrospective register-based total population study.

scientific article published on 16 August 2017

List of works by Minna Pöyhönen

A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in Northern Finland.

APOE and AGT in the Finnish p.Arg133Cys CADASIL population

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors.

CADASIL and CARASIL.

CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.

Congenital pseudarthrosis of the tibia. Treatment and outcome at skeletal maturity in 10 children

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Detection of the founder effect in Finnish CADASIL families

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families

Genetics of dementia in a Finnish cohort.

Haploinsufficiency of the NF1 gene is associated with protection against diabetes

Hereditary spinal neurofibromatosis: a rare form of NF1?

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis.

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Incidence and mortality of neurofibromatosis: a total population study in Finland

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Large genomic rearrangements and germline epimutations in Lynch syndrome

Loss of SUFU function in familial multiple meningioma.

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Molecular Analysis of Familial Endometrial Carcinoma: A Manifestation of Hereditary Nonpolyposis Colorectal Cancer or a Separate Syndrome?

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Neurofibromatosis 1-related osteopenia often progresses to osteoporosis in 12 years.

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

Neurofibromatosis type 1 of the child increases birth weight

Neurologic symptoms are common during gestation and puerperium in CADASIL.

New function for NF1 tumor suppressor

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology

Occult neurofibroma and increased S100 protein in the skin of patients with neurofibromatosis type 1: new insight to the etiopathomechanism of neurofibromas

Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation

Pediatric malignancies in neurofibromatosis type 1: A population-based cohort study

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

Prevalence of neurofibromatosis type 1 in the Finnish population

Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.

Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient.

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population

Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

The pregnancy in neurofibromatosis 1: A retrospective register-based total population study.