Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
Mantere, T., Haanpää, M., Hanenberg, H., Schleutker, J., Kallioniemi, A., Kähkönen, M., Parto, K., Avela, K., Aittomäki, K., von Koskull, H., Hartikainen, J.M., Kosma, V.-M., Laasanen, S.-L., Mannermaa, A., Pylkäs, K., Winqvist, R.
Published in Clinical genetics (01.07.2015)
Published in Clinical genetics (01.07.2015)
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Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
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Published in Gut (01.07.2003)
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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia
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Published in American journal of medical genetics. Part A (01.02.2015)
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A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis
Wallgren-Pettersson, C., Avela, K., Marchand, S., Kolehmainen, J., Tahvanainen, E., Hansen, F.Juul, Muntoni, F., Dubowitz, V., de Visser, M., van Langen, I.M., Laing, Nigel G., Fauré, S., de la Chapelle, A.
Published in Neuromuscular disorders : NMD (01.11.1995)
Published in Neuromuscular disorders : NMD (01.11.1995)
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Hajdu–Cheney syndrome with severe dural ectasia
Avela, Kristiina, Valanne, Leena, Helenius, Ilkka, Mäkitie, Outi
Published in American journal of medical genetics. Part A (01.03.2011)
Published in American journal of medical genetics. Part A (01.03.2011)
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Comprehensive Copy Number and Gene Expression Profiling of the 17q23 Amplicon in Human Breast Cancer
Monni, Outi, Bärlund, Maarit, Mousses, Spyro, Kononen, Juha, Sauter, Guido, Heiskanen, Mervi, Paavola, Paulina, Avela, Kristiina, Chen, Yidong, Bittner, Michael L., Kallioniemi, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (08.05.2001)
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The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder
Kallijärvi, Jukka, Avela, Kristiina, Lipsanen-Nyman, Marita, Ulmanen, Ismo, Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P, Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Published in Nature genetics (01.07.2000)
Published in Nature genetics (01.07.2000)
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Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping
Cormand, Bru, Avela, Kristiina, Pihko, Helena, Santavuori, Pirkko, Talim, Beril, Topaloglu, Haluk, de la Chapelle, Albert, Lehesjoki, Anna-Elina
Published in American journal of human genetics (1999)
Published in American journal of human genetics (1999)
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Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
Savander, M, Ropponen, A, Avela, K, Weerasekera, N, Cormand, B, Hirvioja, M-L, Riikonen, S, Ylikorkala, O, Lehesjoki, A-E, Williamson, C, Aittomäki, K
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23
Paavola, P, Avela, K, Horelli-Kuitunen, N, Bärlund, M, Kallioniemi, A, Idänheimo, N, Kyttälä, M, de la Chapelle, A, Palotie, A, Lehesjoki, A E, Peltonen, L
Published in Genome research (01.03.1999)
Published in Genome research (01.03.1999)
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Assignment of the Mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis
AVELA, K, LIPSANEN-NYMAN, M, PERHEENTUPA, J, WALLGREN-PETTERSSON, C, MARCHAND, S, FAURE, S, SISTONEN, P, DE LA CHAPELLE, A, LEHESJOKI, A.-E
Published in American journal of human genetics (01.04.1997)
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Published in American journal of human genetics (01.04.1997)
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