FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Maaret Ridanpää

Research Profile

Disorders

Chemicals & Drugs

Procedures

Chromosome Mapping

Physiology

Phenomena

Polymorphism, Single-Stranded Conformational

Concepts & Ideas

Geographic Areas

Finland

Anatomy

Co-author Network

Publications

TOP 3
Arto Orpana; Maaret Ridanpää; Kristiina Aittomäki; Katariina Alagrund; Tho H Ho; Jakob Stenman
Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
Annette Gylling; Maaret Ridanpää; Outi Vierimaa; Kristiina Aittomäki; Kristiina Avela; Helena Kääriäinen; Hannele Laivuori; Minna Pöyhönen; Satu-Leena Sallinen; Carina Wallgren-Pettersson; Heikki J Järvinen; Jukka-Pekka Mecklin; Päivi Peltomäki
Large genomic rearrangements and germline epimutations in Lynch syndrome.
T W Kuijpers; Maaret Ridanpää; M Peters; I de Boer; Jaak M Vossen; S T Pals; Ilkka Kaitila; Raoul Hennekam
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Maaret Ridanpää (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Arto Orpana; Maaret Ridanpää; Kristiina Aittomäki; Katariina Alagrund; Tho H Ho; Jakob Stenman
Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
The Journal of molecular diagnostics : JMD 2013;15(1):110-5.
2009: Annette Gylling; Maaret Ridanpää; Outi Vierimaa; Kristiina Aittomäki; Kristiina Avela; Helena Kääriäinen; Hannele Laivuori; Minna Pöyhönen; Satu-Leena Sallinen; Carina Wallgren-Pettersson; Heikki J Järvinen; Jukka-Pekka Mecklin; Päivi Peltomäki
Large genomic rearrangements and germline epimutations in Lynch syndrome.
International journal of cancer. Journal international du cancer 2009;124(10):2333-40.
2003: T W Kuijpers; Maaret Ridanpää; M Peters; I de Boer; Jaak M Vossen; S T Pals; Ilkka Kaitila; Raoul Hennekam
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
Journal of medical genetics 2003;40(10):761-6.
2003: Maaret Ridanpää; L M Ward; Susanna Rockas; Merja Särkioja; H Mäkelä; Miki Susic; Francis H Glorieux; William G Cole; Outi Mäkitie
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
Journal of medical genetics 2003;40(10):741-6.
2003: Maaret Ridanpää; Pawan Jain; Victor A McKusick; Clair A Francomano; Ilkka Kaitila
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;121C(1):81-3.
2002: Maaret Ridanpää; Pertti Sistonen; Susanna Rockas; David L Rimoin; Outi Mäkitie; Ilkka Kaitila
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
European journal of human genetics : EJHG 2002;10(7):439-47.
2002: Kristian Donner; Miina Ollikainen; Maaret Ridanpää; Hans-Jürgen Christen; Hans H Goebel; Marianne de Visser; Katarina Pelin; Carina Wallgren-Pettersson
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
Neuromuscular disorders : NMD 2002;12(2):151-8.
2001: Maaret Ridanpää; H van Eenennaam; Katarina Pelin; R Chadwick; C Johnson; B Yuan; W vanVenrooij; G Pruijn; R Salmela; Susanna Rockas; Outi Mäkitie; Ilkka Kaitila; Albert de La Chapelle
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Cell 2001;104(2):195-203.
1999: T Vakkilainen; P Kivipensas; Ilkka Kaitila; A de le Chapelle; Maaret Ridanpää
Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.
Genomics 1999;59(3):319-25.
1998: Akseli Hemminki; D Markie; Ian Tomlinson; E Avizienyte; S Roth; Anu Loukola; Graham R Bignell; William Warren; M Aminoff; Pia Höglund; Heikki Järvinen; Paula Kristo; Katarina Pelin; Maaret Ridanpää; Reijo Salovaara; T Toro; Walter Bodmer; S Olschwang; A S Olsen; Michael R Stratton; Albert de La Chapelle; Lauri A Aaltonen
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Nature 1998;391(6663):184-7.
1997: Katarina Pelin; Maaret Ridanpää; Kristian Donner; Stephen D Wilton; J Krishnarajah; Nigel Laing; B Kolmerer; S Millevoi; Siegfried Labeit; Albert de La Chapelle; C Wallgren-Petterson
Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
European journal of human genetics : EJHG 1997;5(4):229-34.
1997: T Sulisalo; Outi Mäkitie; Pertti Sistonen; Maaret Ridanpää; Wa'el El-Rifai; O Ruuskanen; Albert de La Chapelle; Ilkka Kaitila
Uniparental disomy in cartilage-hair hypoplasia.
European journal of human genetics : EJHG 1997;5(1):35-42.