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D-Index & Metrics

Biology and Biochemistry

D-Index
59
Citations
12060
World Ranking
12570
National Ranking
89

Overview

Ilkka Kaitila is affiliated with the University of Helsinki in Finland and is active in the fields of Biochemistry, Genetics, and Molecular Biology. Their research encompasses subfields including Genetics, Molecular Biology, and Cell Biology.

The scientist's work focuses on topics such as connective tissue disorders research, congenital heart defects research, and Hippo pathway signaling and YAP/TAZ. These areas reflect an emphasis on molecular mechanisms underlying developmental and pathological processes.

Ilkka Kaitila has contributed to the academic literature with publications in peer-reviewed journals, including the following paper:

  • A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant, 2022, Frontiers in Endocrinology

Frequent collaborators in their research include:

  • Riikka E. Mäkitie
  • Sanna Toiviainen-Salo
  • Outi Mäkitie

Ilkka Kaitila has published predominantly in Frontiers in Endocrinology, indicating a focus on endocrinological aspects connected to genetic and molecular biology research.

Best Publications

  • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

    Johanna Hästbacka;Albert de la Chapelle;Melanie M. Mahtani;Greg Clines

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

    Johanna Hästbacka;Albert de la Chapelle;Ilkka Kaitila;Ilkka Kaitila;Pertti Sistonen

  • 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

  • Fetal membrane collagens: identification of two new collagen alpha chains

    R E Burgeson;F A El Adli;I I Kaitila;D W Hollister

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

    Gary A. Bellus;Iain McIntosh;Iain McIntosh;E. Anne Smith;Arthur S. Aylsworth

  • Location on chromosome 15 of the gene defect causing Marfan syndrome.

    Katariina Kainulainen;Leena Pulkkinen;Aslak Savolainen;Ilkka Kaitila

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

    Gwenaëlle Collod-Béroud;Saga Le Bourdelles;Lesley Ades;Lesley Ades;Leena Ala-Kokko;Leena Ala-Kokko

  • Identification of a novel common genetic risk factor for lumbar disk disease.

    Petteri Paassilta;Jaana Lohiniva;Harald H. H. Göring;Harald H. H. Göring;Merja Perälä

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Cornelius F. Boerkoel;Hiroshi Takashima;Joy John;Jiong Yan

  • Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

    Susanna Annunen;Jarmo Körkkö;Jarmo Körkkö;Malwina Czarny;Matthew L. Warman

  • 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

  • Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

    O. Mäkitie;I. Kaitila

  • Quality of life in early adolescence: a sixteen-dimensional health-related measure (16D).

    M Apajasalo;H Sintonen;C Holmberg;J Sinkkonen

  • Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

    Iain McIntosh;Sandra D. Dreyer;Sandra D. Dreyer;Mark V. Clough;Jennifer A. Dunston

  • International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone

    David L. Rimoin;Glair A. Francomano;Andres Giedion;Christine Hall

  • Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

    C. F. Boerkoel;S. O'Neill;J. L. André;P. J. Benke

  • 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

  • Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey.

    Kaija Kuurila;Ilkka Kaitila;Reijo Johansson;Reidar Grénman

  • The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency†

    Stephen D. Cederbaum;Illka Kaitila;David L. Rimoin;E. Richard Stiehm

  • Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

    Kristien P Hoornaert;Inge Vereecke;Chantal Dewinter;Thomas Rosenberg

Frequent Co-Authors

Pertti Sistonen
Pertti Sistonen Finnish Red Cross
Leena Ala-Kokko
Leena Ala-Kokko University of Oulu
Clair A. Francomano
Clair A. Francomano Indiana University
Albert de la Chapelle
Albert de la Chapelle The Ohio State University
Leena Peltonen
Leena Peltonen University of Helsinki
Sakari Knuutila
Sakari Knuutila University of Helsinki
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Juha Kere
Juha Kere Karolinska Institute
Miikka Vikkula
Miikka Vikkula Université Catholique de Louvain
Cornelius F. Boerkoel
Cornelius F. Boerkoel University of British Columbia

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