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1

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

Vesa Juvonen, Eeva Nikoskelainen, Tarja Lamminen, Maila Penttinen, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1997

Language:

english

File:

PDF, 164 KB

english, 1997

2

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

Kirsi Huoponen, Tarja Lamminen, Vesa Juvonen, Pertti Aula, Eeva Nikoskelainen, Marja -Liisa Savontaus

Journal:

Year:

1993

Language:

english

File:

PDF, 602 KB

english, 1993

3

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami

Lahermo, Päivi, Savontaus, Marja-Liisa, Sistonen, Pertti, Béres, Judit, de Knijff, Peter, Aula, Pertti, Sajantila, Antti

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 159 KB

english, 1999

4

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

Polvi, Anne, Linturi, Henna, Varilo, Teppo, Anttonen, Anna-Kaisa, Byrne, Myles, Fokkema, Ivo F.A.C., Almusa, Henrikki, Metzidis, Anthony, Avela, Kristiina, Aula, Pertti, Kestilä, Marjo, Muilu, Juha

Journal:

Year:

2013

Language:

english

File:

PDF, 238 KB

english, 2013

5

New progeroid disorder

Penttinen, Maila, Niemi, Kirsti-Maria, Vinkka-Puhakka, Heli, Johansson, Reijo, Aula, Pertti

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.35 MB

english, 1997

6

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients

Kaisa Silander, Päivi Meretoja, Eva Nelis, Vincent Timmerman, Christine Van Broeckhoven, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1996

Language:

english

File:

PDF, 742 KB

english, 1996

7

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies

Kaisa Silander, Päivi Meretoja, Vesa Juvonen, Jaakko Ignatius, Helena Pihko, Ari Saarinen, Tiina Wallden, Eila Herrgård, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

8

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria

Dr. Pertti Aula, Juhani Rapola, Harriet von Koskull, Pirkko Ämmälä

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 728 KB

english, 1984

9

Second trimester prenatal diagnosis of the fragile X

Niels Tommerup, Pertti Aula, Björn Gustavii, Arvid Heiberg, Gösta Holmgren, Harriet von Koskull, Jaakko Leisti, Margareta Mikkelsen, Felix Mitelman, Karen B. Nielsen, Peter Steinbach, Sabine Stengel-R

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 603 KB

english, 1986

10

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

Dr. Martin Renlund, Pertti Aula, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 495 KB

english, 1987

11

Database for the mutations of the Finnish disease heritage

Kati Sipilä, Pertti Aula

Journal:

Year:

2002

Language:

english

File:

PDF, 252 KB

english, 2002

12

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

Kirsi Huoponen, Vesa Juvonen, Antti Iitiä, Patrik Dahlen, Harri Siitari, Pertti Aula, Eeva Nikoskelainen, Marja-Liisa Savontaus

Journal:

Year:

1994

Language:

english

File:

PDF, 633 KB

english, 1994

13

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene

Annukka Isoniemi, Marja Hietala, Pertti Aula, Anu Jalanko, Leena Peltonen

Journal:

Year:

1995

Language:

english

File:

PDF, 921 KB

english, 1995

14

The cytogenetic effects of mycoplasma in human leukocyte cultures

Pertti Aula, Warren W. Nichols

Journal:

Journal of Cellular Physiology

Year:

1967

Language:

english

File:

PDF, 610 KB

english, 1967

15

Prenatal diagnosis of free sialic acid storage disorders (SASD)

Nina Aula, Pertti Aula

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 58 KB

english, 2006

16

Amniotic fluid pregnancy-specific β1-glycoprotein (SP1) in Meckel's syndrome: A new test for prenatal diagnosis?

Markku Heikinheimo, Pertti Aula, Juhani Rapola, Torsten Wahlström, Hannu Jalanko, Markku Seppälä

Journal:

Prenatal Diagnosis

Year:

1982

Language:

english

File:

PDF, 338 KB

english, 1982

17

Amniotic fluid pregnancy-specific β1-glycoprotein (SP1) in fetal developmental disorders

Markku Heikinheimo, Hannu Jalanko, Jaakko Leisti, Kaija-Leena Kolho, Riitta Salonen, Harriet Von Koskull, Pertti Aula

Journal:

Prenatal Diagnosis

Year:

1984

Language:

english

File:

PDF, 203 KB

english, 1984

18

Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a University Centre

Pertti Palo, Olli Piiroinen, Erkki Honkonen, Taina Lakkala, Pertti Aula

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 453 KB

english, 1994

19

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

Pirjo Salomäki, Nina Aula, Vesa Juvonen, Martin Renlund, Pertti Aula

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

20

Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4

Kristiina Grön, Pertti Aula, Leena Peltonen

Journal:

Year:

1990

Language:

english

File:

PDF, 346 KB

english, 1990

21

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

Leena Haataja, Johanna Schlentker, Martin Renlund, Aarno Palotie, Leena Peltonen, Pertti Aula

Journal:

Year:

1992

Language:

english

File:

PDF, 264 KB

english, 1992

22

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease

Johanna Schleutker, Leena Haataja, Martin Renlund, Lea Puhakka, Juha Viitala, Leena Peltonen, Pertti Aula

Journal:

Year:

1991

Language:

english

File:

PDF, 458 KB

english, 1991

23

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

Maris Laan, Kristiina Grön-Virta, Armi Salo, Pertti Aula, Leena Peltonen, Aarno Palotie, Ann-Christine Syvänen

Journal:

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

24

A deletion in chromosome 22 can cause digeorge syndrome

Albert Chapelle, Riitta Herva, Maila Koivisto, Pertti Aula

Journal:

Year:

1981

Language:

english

File:

PDF, 519 KB

english, 1981

25

Inherited (13; 14) translocation and reproduction

Harriet Koskull, Pertti Aula

Journal:

Year:

1974

Language:

english

File:

PDF, 603 KB

english, 1974

26

Distribution of spontaneous chromosome breaks in human chromosomes

Pertti Aula, Harriet Koskull

Journal:

Year:

1976

Language:

english

File:

PDF, 679 KB

english, 1976

27

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

T. Lauteala, Nina Horelli-Kuitunen, Ellen Closs, Marja-Liisa Savontaus, Mari Lukkarinen, Olli Simell, James Cunningham, Aarno Palotie, Pertti Aula

Journal:

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

28

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

K. Silander, Päivi Meretoja, Helena Pihko, Vesa Juvonen, Jouni Issakainen, Pertti Aula, Marja-Liisa Savontaus

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

29

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

Arja Laitinen, Marja Hietala, James C. Haworth, Marlis L Schroeder, Lome E. Seargeant, Cheryl R. Greenberg, Pertti Aula

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 538 KB

english, 1997

30

Neurocognitive profiles in Salla disease

Liisa Alajoki, Tarja Varho, Kristiina Posti, Pertti Aula, Tapio Korhonen

Journal:

Developmental Medicine & Child Neurology

Year:

2004

Language:

english

File:

PDF, 143 KB

english, 2004

31

10.1038/70585

Verheijen, Frans W., Verbeek, Elly, Aula, Nina, Beerens, Cecile E.M.T., Havelaar, Adrie C., Joosse, Marijke, Peltonen, Leena, Aula, Pertti, Galjaard, Hans, van der Spek, Peter J., Mancini, Grazia M.S.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 1.43 MB

english, 1999

32

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis

Männikkö, Minna, Kestilä, Marjo, Lenkkeri, Ulla, Alakurtti, Heli, Holmberg, Christer, Leisti, Jaakko, Salonen, Riitta, Aula, Pertti, Mustonen, Aki, Peltonen, Leena

Journal:

Kidney International

Year:

1997

Language:

english

File:

PDF, 465 KB

english, 1997

33

Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders

Pertti Aula, Juhani Rapola, Leif C. Andersson

Journal:

Virchows Archiv B Cell Pathology Zell-pathologie

Year:

1975

Language:

english

File:

PDF, 2.05 MB

english, 1975

34

Chromosome Breaks in Leukocytes of Chickenpox Patients. Preliminary communication

Journal:

Year:

1963

Language:

english

File:

PDF, 462 KB

english, 1963

35

THE KARYOTYPE OF THE ELK (ALCES ALCES)

PERTTI AULA, LEEVI KÄÄRIÄINEN

Journal:

Year:

1964

Language:

english

File:

PDF, 492 KB

english, 1964

36

CHROMOSOME DAMAGE ASSOCIATED WITH THE MEASLES VIRUS IN VITRO

WARREN W. NICHOLS, ALBERT LEVAN, PERTTI AULA, ERLING NORRBY

Journal:

Year:

1965

Language:

english

File:

PDF, 1.43 MB

english, 1965

37

Extreme chromosome breakage induced by measles virus in different in vitro systems. Preliminary communication

Warren W. Nichols, Albert Levan, Pertti Aula, Erling Norrby

Journal:

Year:

1964

Language:

english

File:

PDF, 816 KB

english, 1964

38

EARLY MORPHOLOGY OF THE CHROMOSOME DAMAGE INDUCED BY SENDAI VIRUS

PERTTI AULA, EERO SAKSELA

Journal:

Year:

1966

Language:

english

File:

PDF, 416 KB

english, 1966

39

Electron-microscopic observations on Sendai virus-induced chromosome pulverization in HeLa cells

Journal:

Year:

1970

Language:

english

File:

PDF, 2.51 MB

english, 1970

40

Banding characteristics of paracentric marker constrictions in human chromosomes

Pertti Aula, Eero Saksela

Journal:

Year:

1972

Language:

english

File:

PDF, 167 KB

english, 1972

41

Virus-induced premature chromosome condensation (PCC) in single cells and G-bands of PCC-chromatin

Journal:

Year:

1973

Language:

english

File:

PDF, 540 KB

english, 1973

42

Distribution of chromosome breaks in measles, Fanconi's anemia and controls

HARRIET VON KOSKULL, PERTTI AULA

Journal:

Year:

1977

Language:

english

File:

PDF, 771 KB

english, 1977

43

Characterization of the Lysinuric Protein Intolerance (LPI) Region within T-cell Receptor α/δ Gene Cluster on Chromosome Site 14qll

Tuija Lauteala, Juha Mykkänen, Nina Horelli-Kuitunen, Johanna Aaltonen, Paulina Paavola, Marja-Liisa Savontaus, Olli Simell, Pertti Aula

Journal:

Year:

1999

Language:

english

File:

PDF, 525 KB

english, 1999

44

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

Albert de La Chapelle, Eeva-Marja Sankila, Mikael Lindlöf, Pertti Aula, Reuo Norio

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 401 KB

english, 1985

45

Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis

Johanna Mäenpää, Elina Lindahl, Pertti Aula, Marja-Liisa Savontaus

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 453 KB

english, 1990

46

Increased Urinary Excretion of Free N-Acetylneuraminic Acid in Thirteen Patients with Salla Disease

Martin RENLUND, M. Alan CHESTER, Arne LUNDBLAD, Pertti AULA, Kari O. RAIVIO, Seppo AUTIO, Sirkka-Liisa KOSKELA

Journal:

Year:

1979

Language:

english

File:

PDF, 535 KB

english, 1979

47

Expression of Normal and Mutant GFP-Tagged y+L Amino Acid Transporter-1 in Mammalian Cells

Minna Toivonen, Juha Mykkänen, Pertti Aula, Olli Simell, Marja-Liisa Savontaus, Kirsi Huoponen

Journal:

Biochemical and Biophysical Research Communications

Year:

2002

Language:

english

File:

PDF, 201 KB

english, 2002

48

Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15

Johanna Schleutker, Antti-Pekka Laine, Leena Haataja, Martin Renlund, Jean Weissenbach, Pertti Aula, Leena Peltonen

Journal:

Year:

1995

File:

PDF, 450 KB

1995

49

A Physical Map of the 6q14–q15 Region Harboring the Locus for the Lysosomal Membrane Sialic Acid Transport Defect

Pirjo Leppänen, Juha Isosomppi, Johanna Schleutker, Pertti Aula, Leena Peltonen

Journal:

Year:

1996

Language:

english

File:

PDF, 195 KB

english, 1996

50

Gene defects in Leber hereditary optic neuroretinopathy

Marja-Liisa Savontaus, Kirsi Huoponen, Anna Majander, Pertti Aula, Eeva K. Nikoskelainen

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1992

Language:

english

File:

PDF, 194 KB

english, 1992

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