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Ilkka Kaitila

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Liisamari Krüger; Timo Pohjolainen; Marja Arkela-Kautiainen; Ilkka Kaitila; Hannu Kautiainen; Heikki Hurri
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland.
Heidi Arponen; Marja Ekholm; Jari Haukka; Ilkka Kaitila; Outi Mäkitie; Mervi K Mäyränpää; Helena Ranta; Janna Waltimo-Sirén
Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta.
Ilkka Kaitila; Eero Jokinen; Jorma Kokkonen
[Marfan syndrome].

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2013: Liisamari Krüger; Timo Pohjolainen; Marja Arkela-Kautiainen; Ilkka Kaitila; Hannu Kautiainen; Heikki Hurri
Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland.
Journal of rehabilitation medicine : official journal of the UEMS European Board of Physical and Rehabilitation Medicine 2013;45(3):308-13.
2012: Heidi Arponen; Marja Ekholm; Jari Haukka; Ilkka Kaitila; Outi Mäkitie; Mervi K Mäyränpää; Helena Ranta; Janna Waltimo-Sirén
Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2012;27(5):1142-9.
2012: Ilkka Kaitila; Eero Jokinen; Jorma Kokkonen
[Marfan syndrome].
Duodecim; lääketieteellinen aikakauskirja 2012;128(5):503-13.
2010: Outi Mäkitie; Renata C Pereira; Ilkka Kaitila; Serap Turan; Murat Bastepe; Timo Laine; Heikki Kröger; William G Cole; Harald Jüppner
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(10):2165-74.
2009: Taina Sipponen; Riitta Karikoski; Hannu Nuutinen; Antti Markkola; Ilkka Kaitila
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.
Journal of clinical gastroenterology 2009;43(5):437-43.
2008: Mervi Taskinen; Annamari Ranki; Eero Pukkala; Leila Jeskanen; Ilkka Kaitila; Outi Mäkitie
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.
American journal of medical genetics. Part A 2008;146A(18):2370-5.
2008: Alireza Baradaran-Heravi; Christian Thiel; Anita Rauch; Martin Zenker; Cornelius F Boerkoel; Ilkka Kaitila
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
American journal of medical genetics. Part A 2008;146A(15):2013-7.
2008: Outi Makitie; Sanna Toiviainen-Salo; Eino Marttinen; Ilkka Kaitila; Etienne Sochett; Ilkka Sipila
Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets.
Hormone research 2008;69(4):212-20.
2007: Christian T Thiel; Geert Mortier; Ilkka Kaitila; André Reis; Anita Rauch
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
American journal of human genetics 2007;81(3):519-29.
2006: Outi Kovero; Seppo Pynnönen; Kaija Kuurila-Svahn; Ilkka Kaitila; Janna Waltimo-Sirén
Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers.
Journal of neurosurgery 2006;105(3):361-70.
2005: Niels Thomas Hertel; Ole Eklöf; Sten-A Ivarsson; Stefan Aronson; Otto Westphal; Ilkka Sipilä; Ilkka Kaitila; Jon Bland; Dag Veimo; Jørn Müller; Klaus Mohnike; Lo Neumeyer; Martin Ritzen; Lars Hagenäs
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial.
Acta paediatrica (Oslo, Norway : 1992) 2005;94(10):1402-10.
2005: Sara Sebnem Kilic; Osman Donmez; Emily A Sloan; Leah I Elizondo; Cheng Huang; Jean-Luc André; Radovan Bogdanovic; Sandra Cockfield; Isabel Cordeiro; Georges Deschenes; Stefan Fründ; Ilkka Kaitila; Giuliana Lama; Petra Lamfers; Thomas Lücke; David V Milford; Lydia Najera; Francisco Rodrigo; Jorge M Saraiva; Beate Schmidt; Graham C Smith; Nastasa Stajic; Anja Stein; Doris Taha; Dorothea Wand; Dawna Armstrong; Cornelius F Boerkoel
Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
American journal of medical genetics. Part A 2005;135(2):206-10.
2005: Janna Waltimo-Sirén; Marina Kolkka; Seppo Pynnönen; Kaija Kuurila; Ilkka Kaitila; Outi Kovero
Craniofacial features in osteogenesis imperfecta: a cephalometric study.
American journal of medical genetics. Part A 2005;133A(2):142-50.
2004: Heini Hartikka; Kaija Kuurila; Jarmo Körkkö; Ilkka Kaitila; Reidar Grénman; Seppo Pynnönen; James C Hyland; Leena Ala-Kokko
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
Human mutation 2004;24(2):147-54.
2004: Maila Penttinen; Ilkka Kantola; Pirjo Nuutila; Aki Hietaharju; Eero Honkanen; Ilkka Kaitila; Leo Niskanen; Markku Savolainen; Jorma Viikari
[Fabry's disease, recommendation for diagnostics, follow up and treatment in Finland].
Duodecim; lääketieteellinen aikakauskirja 2004;120(20):2407-14.
2004: Ilkka Kaitila
[Who picks up the costs of expensive enzyme replacement therapy?].
Duodecim; lääketieteellinen aikakauskirja 2004;120(20):2375-7.
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: Gwenaëlle Collod-Béroud; Saga Le Bourdelles; Lesley Ades; Leena Ala-Kokko; Patrick Booms; Maureen Boxer; Anne Child; Paolo Comeglio; Anne De Paepe; James C Hyland; Katerine Holman; Ilkka Kaitila; Bart Loeys; Gabor Matyas; Lieve Nuytinck; Leena Peltonen; Terhi Rantamaki; Peter Robinson; Beat Steinmann; Claudine Junien; Christophe Béroud; catherine boileau
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Human mutation 2003;22(3):199-208.
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.
2003: Kaija Kuurila; E Kentala; S Karjalainen; Seppo Pynnönen; Outi Kovero; Ilkka Kaitila; Reidar Grénman; J Waltimo
Vestibular dysfunction in adult patients with osteogenesis imperfecta.
American journal of medical genetics. Part A 2003;120A(3):350-8.
2003: Adriana Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
Human genetics 2003;113(2):162-9.
2003: Lyly Teppo; Per-Henrik Groop; Ilkka Kaitila; Kimmo Kontula; Veli-Pekka Lehto; Aki Rovasalo; Olavi Ylikorkala
[Have you been feeling good?].
Duodecim; lääketieteellinen aikakauskirja 2003;119(23):2237-8.
2002: Outi Mäkitie; Marja Heikkinen; Ilkka Kaitila; Risto J Rintala
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.
Journal of pediatric surgery 2002;37(11):1585-8.
2002: Kaija Kuurila; Ilkka Kaitila; Reijo Johansson; Reidar Grénman
Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey.
The Annals of otology, rhinology, and laryngology 2002;111(10):939-46.
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: Katariina Hannula; Marita Lipsanen-Nyman; Paula Kristo; Ilkka Kaitila; Kalle O J Simola; Hanna-Liisa Lenko; Päivi Tapanainen; Christer Holmberg; Juha Kere
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.
Pediatrics 2002;109(3):441-8.
2002: Jarmo Körkkö; Ilkka Kaitila; L Lönnqvist; L Peltonen; Leena Ala-Kokko
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Journal of medical genetics 2002;39(1):34-41.
2002: Prateek A Gupta; Elizabeth A Putnam; Sonya G Carmical; Ilkka Kaitila; Beat Steinmann; Anne Child; Cesare Danesino; Kay Metcalfe; Susan A Berry; Emily Chen; Catherine Vincent Delorme; Meow-Keong Thong; Lesley C Adès; Dianna M Milewicz
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Human mutation 2002;19(1):39-48.
2001: Eero Kajantie; Sture Andersson; Ilkka Kaitila
Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.
The Journal of pediatrics 2001;139(1):130-3.
2001: Outi Mäkitie; Ilkka Kaitila; Risto J Rintala
Hirschsprung disease associated with severe cartilage-hair hypoplasia.
The Journal of pediatrics 2001;138(6):929-31.
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.
2001: Ilkka Kaitila; Kaija Kuurila; P Kallio
[Osteogenesis imperfecta--a congenital brittleness of bones].
Duodecim; lääketieteellinen aikakauskirja 2001;117(21):2195-202.
2001: Outi Mäkitie; E Pukkala; Ilkka Kaitila
Increased mortality in cartilage-hair hypoplasia.
Archives of disease in childhood 2001;84(1):65-67.
2000: Eero Kajantie; Sinikka Pirinen; Viena Tommiska; Ilkka Kaitila
A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity.
Clinical dysmorphology 2000;9(4):259-64.
2000: Outi Mäkitie; Ilkka Kaitila; E Savilahti
Deficiency of humoral immunity in cartilage-hair hypoplasia.
The Journal of pediatrics 2000;137(4):487-92.
2000: Kaija Kuurila; Reidar Grénman; R Johansson; Ilkka Kaitila
Hearing loss in children with osteogenesis imperfecta.
European journal of pediatrics 2000;159(7):515-9.
2000: Henna Tyynismaa; Ilkka Kaitila; Kirsti Näntö-Salonen; Marja Ala-Houhala; Tiina Alitalo
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
Human mutation 2000;15(4):383-4.
2000: Aarne Kivioja; H Ervasti; Jaakko Kinnunen; Ilkka Kaitila; M Wolf; Tom Böhling
Chondrosarcoma in a family with multiple hereditary exostoses.
The Journal of bone and joint surgery. British volume 2000;82(2):261-6.
2000: Outi Mäkitie; E Juvonen; Leo Dunkel; Ilkka Kaitila; M A Siimes
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system.
The Journal of clinical endocrinology and metabolism 2000;85(2):563-8.
2000: Outi Mäkitie; Ilkka Kaitila; E Pukkala; Lyly Teppo; E Savilahti
[The role of immune deficiency in cartilage-hair hypoplasia].
Duodecim; lääketieteellinen aikakauskirja 2000;116(12):1299-305; quiz 1305, 1308.
1999: Ville Remes; Eino Marttinen; Mikko Poussa; Ilkka Kaitila; Jari Peltonen
Cervical kyphosis in diastrophic dysplasia.
Spine 1999;24(19):1990-5.
1999: S Annunen; Jarmo Körkkö; M Czarny; Matthew L Warman; H G Brunner; Helena Kääriäinen; J B Mulliken; Lisbeth Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; Ilkka Kaitila; Maciej R Krawczynski; Anna Latos-Bielenska; S Mukai; Bjorn R Olsen; N Shinno; Mirja Somer; Miikka Vikkula; J Zlotogora; Darwin J Prockop; Leena Ala-Kokko
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
American journal of human genetics 1999;65(4):974-83.
1999: Johanna Hästbacka; A Kerrebrock; K Mokkala; GA Clines; M Lovett; Ilkka Kaitila; Albert de La Chapelle; Eric S Lander
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
European journal of human genetics : EJHG 1999;7(6):664-70.
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.
1999: Outi Mäkitie; E Pukkala; Lyly Teppo; Ilkka Kaitila
Increased incidence of cancer in patients with cartilage-hair hypoplasia.
The Journal of pediatrics 1999;134(3):315-8.
1998: Iain McIntosh; Sandra D Dreyer; MV Clough; Jennifer A Dunston; W Eyaid; C M Roig; T Montgomery; S Ala-Mello; Ilkka Kaitila; Andreas Winterpacht; Bernhard Zabel; Moshe Frydman; W G Cole; Clair A Francomano; Brendan Lee
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
American journal of human genetics 1998;63(6):1651-8.
1998: Outi Mäkitie; Ilkka Kaitila; Erkki Savilahti
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.
European journal of pediatrics 1998;157(10):816-20.
1998: Douglas J Wilkin; J K Szabo; R Cameron; S Henderson; GA Bellus; M L Mack; Ilkka Kaitila; John Loughlin; A Munnich; B Sykes; J Bonaventure; Clair A Francomano
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
American journal of human genetics 1998;63(3):711-6.
1998: Ilkka Kaitila; Erkki Savilahti; Timo Ormälä
Autoimmune enteropathy in Schimke immunoosseous dysplasia.
American journal of medical genetics 1998;77(5):427-30.
1998: P Vaara; Jari Peltonen; Mikko Poussa; Joonas Merikanto; Markku Nurminen; Ilkka Kaitila; S Ryöppy
Development of the hip in diastrophic dysplasia.
The Journal of bone and joint surgery. British volume 1998;80(2):315-20.
1998: Marjo Apajasalo; Harri Sintonen; Jukka Rautonen; Ilkka Kaitila
Health-related quality of life of patients with genetic skeletal dysplasias.
European journal of pediatrics 1998;157(2):114-21.
1998: M Wolf; Akseli Hemminki; Aarne Kivioja; Pertti Sistonen; Ilkka Kaitila; H Ervasti; Jaakko Kinnunen; Erkki O Karaharju; Sakari Knuutila
A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.
Human mutation 1998;12(5):362.
1998: E Karlstedt; Elina Isotalo; Marja-Leena Haapanen; Mirjam Kalland; Sinikka Pirinen; Ilkka Kaitila
Correlation between speech outcome and cephalometric dimensions in patients with diastrophic dysplasia.
Journal of craniofacial genetics and developmental biology 1998;18(1):38-43.
1997: E Karlstedt; Ilkka Kaitila; Sinikka Pirinen
Craniofacial structure in diastrophic dysplasia--a cephalometric study.
American journal of medical genetics 1997;72(3):266-74.
1997: E Karlstedt; Outi Kovero; Ilkka Kaitila; Sinikka Pirinen
Transverse facial morphology in patients with diastrophic dysplasia.
Journal of craniofacial genetics and developmental biology 1997;17(4):178-83.
1997: Outi Mäkitie; Ilkka Kaitila
Growth in diastrophic dysplasia.
The Journal of pediatrics 1997;130(4):641-6.
1997: Aslak Savolainen; Markku Kupari; L Toivonen; Ilkka Kaitila; Matti Viitasalo
Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome.
Journal of internal medicine 1997;241(3):221-6.
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.
1996: Marjo Apajasalo; Jukka Rautonen; C Holmberg; Jari Sinkkonen; Veikko A Aalberg; H Pihko; Martti A Siimes; Ilkka Kaitila; A Mäkelä; Krista Erkkilä; Harri Sintonen
Quality of life in pre-adolescence: a 17-dimensional health-related measure (17D).
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 1996;5(6):532-8.
1996: E Karlstedt; Ilkka Kaitila; Sinikka Pirinen
Phenotypic features of dentition in diastrophic dysplasia.
Journal of craniofacial genetics and developmental biology 1996;16(3):164-73.
1996: GA Bellus; Iain McIntosh; J Szabo; Arthur S Aylsworth; Ilkka Kaitila; Clair A Francomano
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.
Annals of the New York Academy of Sciences 1996;785():182-7.
1996: Ilkka Kaitila; Jarmo Körkkö; Eino Marttinen; Leena Ala-Kokko
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
American journal of medical genetics 1996;63(1):111-22.
1996: Marjo Apajasalo; Harri Sintonen; C Holmberg; Jari Sinkkonen; Veikko A Aalberg; H Pihko; Martti A Siimes; Ilkka Kaitila; A Mäkelä; K Rantakari; RM Anttila; Jukka Rautonen
Quality of life in early adolescence: a sixteen-dimensional health-related measure (16D).
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 1996;5(2):205-11.
1995: GA Bellus; Iain McIntosh; E A Smith; Arthur S Aylsworth; Ilkka Kaitila; W A Horton; G A Greenhaw; Jacqueline T Hecht; Clair A Francomano
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Nature genetics 1995;10(3):357-9.
1995: GA Bellus; T W Hefferon; R I Ortiz de Luna; Jacqueline T Hecht; W A Horton; M Machado; Ilkka Kaitila; Iain McIntosh; Clair A Francomano
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
American journal of human genetics 1995;56(2):368-73.
1995: T Sulisalo; D Sillence; M Wilson; M Ryynänen; Ilkka Kaitila
Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers.
Prenatal diagnosis 1995;15(2):135-40.
1995: Outi Mäkitie; T Sulisalo; Albert de La Chapelle; Ilkka Kaitila
Cartilage-hair hypoplasia.
Journal of medical genetics 1995;32(1):39-43.
1995: E Juvonen; Outi Mäkitie; Anne Mäkipernaa; Tapani Ruutu; Ilkka Kaitila; Jukka Rajantie
Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.
European journal of pediatrics 1995;154(1):30-4.
1995: A Savolainen; H Savolainen; T Savunen; Markku Kupari; Ilkka Kaitila; M Inberg; SP Mattila
Results of cardiovascular surgery in the Marfan syndrome. A retrospective study of 49 patients.
Scandinavian journal of thoracic and cardiovascular surgery 1995;29(1):11-5.
1994: T Sulisalo; J Klockars; Outi Mäkitie; Clair A Francomano; Albert de La Chapelle; Ilkka Kaitila; Pertti Sistonen
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
American journal of human genetics 1994;55(5):937-45.
1994: A Savolainen; L Nisula; Pekka Keto; Pauli E Hekali; Matti Viitasalo; Ilkka Kaitila; Markku Kupari
Left ventricular function in children with the Marfan syndrome.
European heart journal 1994;15(5):625-30.
1994: T Sulisalo; Clair A Francomano; Pertti Sistonen; J F Maher; Victor A McKusick; Albert de La Chapelle; Ilkka Kaitila
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Genomics 1994;20(3):347-53.
1993: J Hästbacka; R Salonen; P Laurila; Albert de La Chapelle; Ilkka Kaitila
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
Journal of medical genetics 1993;30(4):265-8.
1993: Miikka Vikkula; P Ritvaniemi; Alpo Vuorio; Ilkka Kaitila; Leena Ala-Kokko; Leena Peltonen
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Genomics 1993;16(1):282-5.
1993: T Sulisalo; Pertti Sistonen; J Hästbacka; Claes Wadelius; Outi Mäkitie; Albert de La Chapelle; Ilkka Kaitila
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Nature genetics 1993;3(4):338-41.
1993: Outi Mäkitie; Ilkka Kaitila
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.
European journal of pediatrics 1993;152(3):211-7.
1992: Outi Mäkitie; Jukka Rajantie; Ilkka Kaitila
Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
Acta paediatrica (Oslo, Norway : 1992) 1992;81(12):1026-9.
1992: J Hästbacka; Albert de La Chapelle; Ilkka Kaitila; Pertti Sistonen; A Weaver; Eric S Lander
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
Nature genetics 1992;2(3):204-11.
1992: A Savolainen; Pekka Keto; Pauli E Hekali; L Nisula; Ilkka Kaitila; Matti Viitasalo; Veli-Pekka Poutanen; Carl-Gustav Standertskjöld-Nordenstam; Markku Kupari
Aortic distensibility in children with the Marfan syndrome.
The American journal of cardiology 1992;70(6):691-3.
1992: K Kainulainen; L Y Sakai; A Child; F Michael Pope; L Puhakka; L Ryhänen; Aarno Palotie; Ilkka Kaitila; Leena Peltonen
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(13):5917-21.
1992: S Ryöppy; Mikko Poussa; Joonas Merikanto; Eino Marttinen; Ilkka Kaitila
Foot deformities in diastrophic dysplasia. An analysis of 102 patients.
The Journal of bone and joint surgery. British volume 1992;74(3):441-4.
1992: Outi Mäkitie; Jaakko Perheentupa; Ilkka Kaitila
Growth in cartilage-hair hypoplasia.
Pediatric research 1992;31(2):176-80.
1992: Outi Mäkitie; Eino Marttinen; Ilkka Kaitila
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
Pediatric radiology 1992;22(6):434-9.
1992: J I Peltonen; V Hoikka; Mikko Poussa; T Paavilainen; Ilkka Kaitila
Cementless hip arthroplasty in diastrophic dysplasia.
The Journal of arthroplasty 1992;7 Suppl():369-76.
1991: J Hästbacka; Pertti Sistonen; Ilkka Kaitila; B Weiffenbach; Kenneth K Kidd; Albert de La Chapelle
A linkage map spanning the locus for diastrophic dysplasia (DTD).
Genomics 1991;11(4):968-73.
1991: Mikko Poussa; Joonas Merikanto; S Ryöppy; Eino Marttinen; Ilkka Kaitila
The spine in diastrophic dysplasia.
Spine 1991;16(8):881-7.
1991: Ilkka Kaitila; J Hästbacka; ALBERT DE LA CHAPELLE; Pertti Sistonen
[Defective gene causing diastrophic dysplasia has been localized].
Duodecim; lääketieteellinen aikakauskirja 1991;107(17):1418-9.
1990: Juha Kere; A Ritvanen; Eino Marttinen; Ilkka Kaitila
Craniofrontonasal dysostosis: variable expression in a three-generation family.
Clinical genetics 1990;38(6):441-6.
1990: K Kainulainen; L Pulkkinen; A Savolainen; Ilkka Kaitila; Leena Peltonen
Location on chromosome 15 of the gene defect causing Marfan syndrome.
The New England journal of medicine 1990;323(14):935-9.
1990: J Hästbacka; Ilkka Kaitila; Pertti Sistonen; Albert de La Chapelle
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(20):8056-9.
1990: K Kainulainen; A Savolainen; Aarno Palotie; Ilkka Kaitila; J Rosenbloom; Leena Peltonen
Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2.
Human genetics 1990;84(3):233-6.
1990: K Kainulainen; L Palotie; A Savolainen; Ilkka Kaitila
[The Marfan syndrome gene is localized].
Duodecim; lääketieteellinen aikakauskirja 1990;106(21):1453-5.
1987: P Peltomäki; Sakari Knuutila; A Ritvanen; Ilkka Kaitila; A de la Chapelle
Pallister-Killian syndrome: cytogenetic and molecular studies.
Clinical genetics 1987;31(6):399-405.
1986: A Rintala; Eino Marttinen; S L Rantala; Ilkka Kaitila
Cleft palate in diastrophic dysplasia. Morphology, results of treatment and complications.
Scandinavian journal of plastic and reconstructive surgery 1986;20(1):45-9.