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1

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

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, Bar

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 192 KB

english, 2003

2

Cervical Kyphosis in Diastrophic Dysplasia

Remes, Ville, Marttinen, Eino, Poussa, Mikko, Kaitila, Ilkka, Peltonen, Jari

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 974 KB

english, 1999

3

Craniofacial structure in diastrophic dysplasia—a cephalometric study

Karlstedt, Eva, Kaitila, Ilkka, Pirinen, Sinikka

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 188 KB

english, 1997

4

Craniofacial features in osteogenesis imperfecta: A cephalometric study

Janna Waltimo-Sirén, Marina Kolkka, Seppo Pynnönen, Kaija Kuurila, Ilkka Kaitila, Outi Kovero

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 193 KB

english, 2005

5

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland, Leena Ala-Kokko

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 163 KB

english, 2004

6

Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers

Kovero, Outi, Pynnönen, Seppo, Kuurila-Svahn, Kaija, Kaitila, Ilkka, Waltimo-Sirén, Janna

Journal:

Journal of Neurosurgery

Année:

2006

Langue:

english

Fichier:

PDF, 746 KB

english, 2006

7

The Spine in Diastrophic Dysplasia

POUSSA, MIKKO, MERIKANTO, JUHANI, RYÖPPY, SOINI, MARTTINEN, EINO, KAITILA, ILKKA

Journal:

Année:

1991

Fichier:

PDF, 743 KB

1991

8

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Henna Tyynismaa, Ilkka Kaitila, Kirsti Näntö-Salonen, Marja Ala-Houhala, Tiina Alitalo

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 22 KB

english, 2000

9

Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers

Dr. Jaana A. Leipälä, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 1.51 MB

english, 1994

10

Association of migraine-like headaches with Schimke immuno-osseous dysplasia

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, G

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 151 KB

english, 2005

11

Additional EFNB1 mutations in craniofrontonasal syndrome

Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos E. Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka I. Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey,

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 110 KB

english, 2008

12

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 59 KB

english, 2008

13

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 80 KB

english, 2008

14

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

Maaret Ridanpää, Pawan Jain, Victor A. Mckusick, Clair A. Francomano, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 67 KB

english, 2003

15

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

Pertti Ritvaniemi, Jarmo Körkkö, Jacky Bonaventure, Miikka Vikkula, James Hyland, Petteri Paassilta, Ilkka Kaitila, Helena Kääriäinen, Boris P. Sokolov, Markku Hakala, Pertti Mannismäki, Elena M. Meer

Journal:

Arthritis & Rheumatism

Année:

1995

Langue:

english

Fichier:

PDF, 582 KB

english, 1995

16

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

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 Th

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 370 KB

english, 2002

17

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland, Leena Ala-Kokko

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 58 KB

english, 2004

18

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Outi Mäkitie, Renata C Pereira, Ilkka Kaitila, Serap Turan, Murat Bastepe, Tero Laine, Heikki Kröger, William G Cole, Harald Jüppner

Journal:

Journal of Bone and Mineral Research

Année:

2010

Langue:

english

Fichier:

PDF, 413 KB

english, 2010

19

Early prenatal detection of diastrophic dysplasia

Ilkka Kaitila, Pirkko Ämmälä, Olavi Karjalainen, Sirkka Liukkonen, Juhani Rapola

Journal:

Prenatal Diagnosis

Année:

1983

Langue:

english

Fichier:

PDF, 641 KB

english, 1983

20

Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers

Tuija Sulisalo, David Sillence, Meredith Wilson, Markku Ryynänen, Ilkka Kaitila

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 426 KB

english, 1995

21

Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2

Katariina Kainulainen, Aslak Savolainen, Aarno Palotie, Ilkka Kaitila, Joel Rosenbloom, Leena Peltonen

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 435 KB

english, 1990

22

Genetic homogeneity of cartilage-hair hypoplasia

Tuija Sulisalo, Ineke Burgt, David L. Rimoin, Jaques Bonaventure, David Sillence, John B. Campbell, David Chitayat, Charles I. Scott, Albert Chapelle, Pertti Sistonen, Ilkka Kaitila

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 290 KB

english, 1995

23

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia

Eeva Juvonen, Outi Mäkitie, Anne Mäkipernaa, Tapani Ruutu, Ilkka Kaitila, Jukka Rajantie

Journal:

European Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 494 KB

english, 1995

24

Effect of tetracycline on mineralization in cycloheximide-treated bonesin vitro

Journal:

Calcified Tissue International

Année:

1971

Langue:

english

Fichier:

PDF, 920 KB

english, 1971

25

Hearing loss in children with osteogenesis imperfecta

Kaija Kuurila, Reidar Grénman, Reijo Johansson, Ilkka Kaitila

Journal:

European Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 109 KB

english, 2000

26

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

Adriana Maria Montaño, Ilkka Kaitila, Kazuko Sukegawa, Shunji Tomatsu, Zenichiro Kato, Haruki Nakamura, Seiji Fukuda, Tadao Orii, Naomi Kondo

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 267 KB

english, 2003

27

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

Sulisalo, Tuija, 2, Pertti, Hästbacka, Johanna, Wadelius, Claes, Mäkitie, Outi, de la Chapelle, Albert, Kaitila, Ilkka

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 386 KB

1993

28

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Bellus, Gary A., McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S., Kaitila, Ilkka, Horton, William A., Greenhaw, Giselle A., Hecht, Jacqueline T., Francomano, Clair A.

Journal:

Nature Genetics

Année:

1995

Fichier:

PDF, 473 KB

1995

29

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Hästbacka, Johanna, de la Chapelle, Albert, Kaitila, Ilkka, Sistonen, Pertti, Weaver, Alix, Lander, Eric

Journal:

Nature Genetics

Année:

1992

Fichier:

PDF, 1.00 MB

1992

30

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)

Hästbacka, Johanna, Kerrebrock, Anne, Mokkala, Kati, Clines, Gregory, Lovett, Michael, Kaitila, Ilkka, de la Chapelle, Albert, Lander, Eric S

Journal:

European Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 320 KB

english, 1999

31

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

Ridanpää, Maaret, Sistonen, Pertti, Rockas, Susanna, Rimoin, David L, Mäkitie, Outi, Kaitila, Ilkka

Journal:

European Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 347 KB

english, 2002

32

Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

Heidi Arponen, Outi Mäkitie, Jari Haukka, Helena Ranta, Marja Ekholm, Mervi K Mäyränpää, Ilkka Kaitila, Janna Waltimo-Sirén

Journal:

Journal of Bone and Mineral Research

Année:

2012

Langue:

english

Fichier:

PDF, 427 KB

english, 2012

33

Aortic distensibility in children with the Marfan syndrome

Aslak Savolainen, Pekka Keto, Pauli Hekali, Liisa Nisula, Ilkka Kaitila, Matti Viitasalo, Veli-Pekka Poutanen, Carl-Gustaf Standertskjöld-Nordenstam, Markku Kupari

Journal:

The American Journal of Cardiology

Année:

1992

Langue:

english

Fichier:

PDF, 414 KB

english, 1992

34

Growth hormone treatment in 35 prepubertal children with achondroplasia: A five-year dose-response trial

Niels Thomas Hertel, Ole Eklöf, Sten Ivarsson, Stefan Aronson, Otto Westphal, Ilkka Sipilä, Ilkka Kaitila, Jon Bland, Dag Veimo, Jørn Müller, Klaus Mohnike, Lo Neumeyer, Martin Ritzen, Lars Hagenäs

Journal:

Acta Paediatrica

Année:

2005

Langue:

english

Fichier:

PDF, 182 KB

english, 2005

35

The ophthalmological findings in autosomal recessive severe juvenile arteriosclerosis

Christina Raitta, Ilkka Kaitila

Journal:

Acta Ophthalmologica (Blackwell)

Année:

1985

Langue:

english

Fichier:

PDF, 2.41 MB

english, 1985

36

Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers

Anna-Lisa Söderholm, Ilkka Kaitila

Journal:

Clinical Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 650 KB

english, 1985

37

Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance

Hannu Somer, Arja Voutilainen, Sakari Knuutila, Ilkka Kaitila, Juhani Rapola, Hannu Leinonen

Journal:

Clinical Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 422 KB

english, 1985

38

Craniofrontonasal dysostosis: variable expression in a three-generation family

Juha Kere, Annukka Ritvanen, Eino Marttinen, Ilkka Kaitila

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 511 KB

english, 1990

39

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

Miikka Vikkula, Pertti Ritvaniemi, Alpo F. Vuorio, Ilkka Kaitila, Leena Ala-Kokko, Leena Peltonen

Journal:

Année:

1993

Fichier:

PDF, 364 KB

1993

40

High-Resolution Genetic Mapping of the Cartilage-Hair Hypoplasia (CHH) Gene in Amish and Finnish Families

Tuija Sulisalo, Clair A. Francomano, Pertti Sistonen, Joseph F. Maher, Victor A. McKusick, Albert de la Chapelle, Ilkka Kaitila

Journal:

Année:

1994

Fichier:

PDF, 414 KB

1994

41

Integrated High-Resolution BAC, P1, and Transcript Map of the CHH Region in Chromosome 9p13

Tanja Vakkilainen, Paula Kivipensas, Ilkka Kaitila, Albert de le Chapelle, Maaret Ridanpää

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 76 KB

english, 1999

42

Effect of tetracycline on collagen biosynthesis in cultured embryonic bones

Jouko Halme, Kari I. Kivirikko, Ilkka Kaitila, Lauri Saxén

Journal:

Biochemical Pharmacology

Année:

1969

Langue:

english

Fichier:

PDF, 892 KB

english, 1969

43

Increased incidence of cancer in patients with cartilage-hair hypoplasia

Outi Mäkitie, Eero Pukkala, Lyly Teppo, Ilkka Kaitila

Journal:

The Journal of Pediatrics

Année:

1999

Langue:

english

Fichier:

PDF, 127 KB

english, 1999

44

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Maaret Ridanpää, Hans van Eenennaam, Katarina Pelin, Robert Chadwick, Cheryl Johnson, Bo Yuan, Walther vanVenrooij, Ger Pruijn, Riika Salmela, Susanna Rockas, Outi Mäkitie, Ilkka Kaitila, Albert de la

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 535 KB

english, 2001

45

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production

Antonio Rossi, Ilkka Kaitila, William R. Wilcox, David L. Rimoin, Beat Steinmann, Giuseppe Cetta, Andrea Superti-Furga

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 698 KB

english, 1998

46

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

Outi M[auml ]kitie, Marja Heikkinen, Ilkka Kaitila, Risto Rintala

Journal:

Journal of Pediatric Surgery

Année:

2002

Langue:

english

Fichier:

PDF, 60 KB

english, 2002

47

Deficiency of humoral immunity in cartilage-hair hypoplasia

Outi Mäkitie, Ilkka Kaitila, Erkki Savilahti

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 88 KB

english, 2000

48

Hirschsprung disease associated with severe cartilage-hair hypoplasia

Outi Mäkitie, Ilkka Kaitila, Risto Rintala

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 50 KB

english, 2001

49

Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care

Eero Kajantie, Sture Andersson, Ilkka Kaitila

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 95 KB

english, 2001

50

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Douglas J. Wilkin, Jinny K. Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus, Michelle L. Mack, Ilkka Kaitila, John Loughlin, Arnold Munnich, Bryan Sykes, Jacky Bonaventure, Clair A. Francomano

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 601 KB

english, 1998