Marjatta Hietala
#24,844
Most Influential Person Now
Finnish historian
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History
Marjatta Hietala's Degrees
- PhD History University of Helsinki
Why Is Marjatta Hietala Influential?
(Suggest an Edit or Addition)According to Wikipedia, Marjatta Hietala is a Finnish historian specialising in urban history and the history of innovations. She is professor emerita of General History at the University of Tampere. Hietala introduced in Finland the study of innovations and international contacts. She has held a range of positions of trust both in Finland and internationally.
Marjatta Hietala's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer (2002) (1329)
- Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. (2001) (211)
- Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (2007) (137)
- Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland. (1995) (112)
- Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes (2020) (106)
- PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. (2013) (100)
- What is ideal genetic counselling? A survey of current international guidelines (2008) (85)
- Acceptance of genetic testing in a general population: age, education and gender differences. (1997) (83)
- Attitudes towards genetic testing: analysis of contradictions. (1998) (80)
- MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features (2001) (71)
- Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion (2000) (67)
- The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population (2005) (64)
- Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations. (2010) (56)
- A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency (2017) (49)
- Services and urbanization at the turn of the century: The diffusion of innovations (1987) (45)
- Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020) (44)
- Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation (2015) (40)
- Hypomorphic mutations of TRIP11 cause odontochondrodysplasia (2019) (38)
- Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene (1995) (34)
- Epidemiology of Huntington's disease in Finland. (2015) (33)
- Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. (2008) (33)
- Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer (2009) (32)
- No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome (2010) (32)
- Prospects of Carrier Screening of Aspartylglucosaminuria in Finland (1993) (32)
- A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria (2000) (26)
- Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin (2002) (26)
- Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives (2008) (25)
- Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities (2009) (21)
- A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features (2008) (20)
- Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene. (2013) (19)
- DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. (1996) (18)
- Ethical issues in the diagnostic genetic testing process (2004) (16)
- Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). (2012) (16)
- Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia (2002) (15)
- Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2018) (12)
- Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation (1997) (10)
- TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex (2017) (9)
- SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population (2017) (9)
- Food allergy in a child with de novo KAT6A mutation (2017) (9)
- Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (2014) (9)
- The foundation of an information city : education and culture in the development of Tampere (2005) (7)
- Hypomorphic mutations of TRIP 11 cause odontochondrodysplasia (2019) (7)
- Origin of Finnish mutations causing aspartylglucosaminuria. (2004) (7)
- Have patients ’ opinion been asked ? A review of 102 studies from the years 1997 – 2007 on patient perspective of genetic counselling services in genetic testing situations (2008) (6)
- HTT haplogroups in Finnish patients with Huntington disease (2019) (6)
- Privacy and Equality in Diagnostic Genetic Testing (2007) (5)
- Finnish Industry in Transition, 1885-1920: Responding to Technological Challenges. (1991) (5)
- DIAGNOSTIC GENETIC TESTING (2007) (4)
- The diffusion of innovations (1983) (4)
- Are Patient Rights to Information and Self-Determination in Diagnostic Genetic Testing Upheld? A Comparison Of Patients’ and Providers’ Perceptions (2009) (4)
- New Challenges for Urban History: Culture, Networks, Globalization (2012) (3)
- A 69‐year‐old woman with Coffin–Siris syndrome (2018) (3)
- Wilson's Disease in Finland: A Nationwide Population‐Based Study (2020) (3)
- Cold War Cities (2016) (3)
- [Attitudes toward genetic testing in Finland]. (1996) (2)
- Epilogue Cities, Competition, and Cooperation (2008) (2)
- G.P.10.01 Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations (2007) (2)
- Clinical and imaging findings in Parkinson disease associated with the A 53 E SNCA mutation (2)
- [Parkinson's disease associated with a mutation in the PARK2 gene]. (2015) (1)
- Reply to Kratz et al. (2020) (1)
- Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype (2021) (1)
- Key Factors behind the Innovativeness of Helsinki (2003) (1)
- Consequences as ethical issues in diagnostic genetic testing—a comparison of the perceptions of patients/parents and personnel (2007) (1)
- Cultural spaces in Post-Industrial Cities – The trend towards Creative Cities. Examples from two Finnish Cities (2018) (0)
- Erratum to: high-resolution SNP array analysis of patients with developmental disorder and normal array CGH result (2014) (0)
- Town Plans as Expressions of Political and Economic Power and Ecclesiastical Organization in Scandinavia (2017) (0)
- An innovative city : challenges for the future (1999) (0)
- Assessing Quality of Counselling in the Context of Genetic Testing Workshop (2008) (0)
- Romanticist elements in ernst jünger's nationalism (1993) (0)
- Science, Art, and Expertise: Helsinki in the Perspective of European Development, 1875-1917. Volume 1, The Decades of Innovations and Internationalization.@@@Science, Art, and Expertise: Helsinki in the Perspective of European Development, 1875-1917. Volume 2, On Social Policy and Town Planning.@@@S (1994) (0)
- Novel Phenotype Caused by a TP63 Variant: Overlapping EEC and AEC Features with Immunodeficiency and Enlargement of Left Cardiac Compartments in a Very Preterm Infant (2022) (0)
- Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2018) (0)
- Author response: A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency (2017) (0)
- Food and the city in Europe since 1800 - Edited by Peter J. Atkins, Peter Lummel, and Derek J. Oddy (2009) (0)
- Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant. (2023) (0)
- [Congenital insensitivity to pain, anhidrosis and premature loss of baby teeth as a symptoms of rare neuropathy]. (2005) (0)
- The founding of new towns, Helsinki as an example (1992) (0)
- Brief Report (2013) (0)
- Richard D. Bingham and Robert Mier (eds), Dilemmas of Urban Economic Development. The Urban Affairs Annual Revues Nr. 47. Thousand Oaks: Sage Publications, 1997. 344pp. £22.00. (1999) (0)
- Hypomorphic mutations of TRIP11 cause (2019) (0)
- Abstract 1844: No evidence for genetic factor increasing renal cell cancer risk in Hereditary Leiomyomatosis and Renal Cell Cancer syndrome (2010) (0)
- Attitudes towardGenetic Testing among theGeneralPopulation andRelatives ofPatients witha SevereGeneticDisease: A SurveyfromFinland (1995) (0)
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What Schools Are Affiliated With Marjatta Hietala?
Marjatta Hietala is affiliated with the following schools:
