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1

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

2

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

3

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

4

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

5

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

6

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

Pertti Aula, Juhani Rapola, Seppo Autio, Kari Raivio, Olavi Karjalainen

Journal:

The Journal of Pediatrics

Year:

1975

Language:

english

File:

PDF, 4.35 MB

english, 1975

7

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

8

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

9

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

10

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

11

'Salla Disease'

Journal:

Archives of Neurology

Year:

1979

Language:

english

File:

PDF, 2.04 MB

english, 1979

12

Characterization of Two Glycoasparagines Isolated from the Urine of Patients with Aspartylglycosylaminuria (AGU)1

SUGAHARA, Kazuyuki, FUNAKOSHI, Susumu, FUNAKOSHI, Ikuo, AULA, Pertti, YAMASHINA, Ikuo

Journal:

Journal of Biochemistry

Year:

1975

Language:

english

File:

PDF, 1.53 MB

english, 1975

13

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

14

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)

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

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 222 KB

english, 2003

15

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

16

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

17

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

18

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

19

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

20

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

21

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin

Nina Aula, Anu Jalanko, Pertti Aula, Leena Peltonen

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 725 KB

english, 2002

22

Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1978

Language:

english

File:

PDF, 3.42 MB

english, 1978

23

Characterization of a mannose-containing glycoasparagine isolated from urine of a patient with aspartylglycosylaminuria (AGU)

Moriaki Akasaki, Kazuyuki Sugahara, Ikuo Funakoshi, Pertti Aula, Ikuo Yamashina

Journal:

Year:

1976

Language:

english

File:

PDF, 238 KB

english, 1976

24

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

25

PRENATAL DIAGNOSIS OF SALLA DISEASE (SD)

Renlund, Martin, Aula, Pertti

Journal:

Pediatric Research

Year:

1987

Language:

english

File:

PDF, 156 KB

english, 1987

26

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

27

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

28

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy

Huoponen, Kirsi, Vilkki, Johanna, Savontaus, Marja-Liisa, Aula, Pertti, Nikoskelainen, Eeva K.

Journal:

Year:

1990

Language:

english

File:

PDF, 284 KB

english, 1990

29

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

30

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

31

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

32

Glial Origin Of Rapidly Adhering Amniotic Fluid Cells

Pertti Aula, Harriet Von Koskull, Kari Teramo, Olavi Karjalainen, Ismo Virtanen, Veli-Pekka Lehto and Doris Dahl

Journal:

The British Medical Journal

Year:

1980

Language:

english

File:

PDF, 1004 KB

english, 1980

33

Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families

AULA, PERTTI, RAPOLA, JUHANI, KARJALAINEN, OLAVI, LINDGREN, JAN, HARTIKAINEN, ANNA L., SEPPÄLÄ, MARKKU

Journal:

Obstetric and Gynecologic Survey

Year:

1979

File:

PDF, 67 KB

1979

34

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

35

Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14

Tuija Lauteala, Pertti Sistonen, Marja-Liisa Savontaus, Juha Mykkänen, Jaakko Simell, Mari Lukkarinen, Olli Simell, Pertti Aula

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 508 KB

english, 1997

36

Lymphocytic inclusions in I-cell disease

Juhani Rapola, Seppo Autio, Pertti Aula, Veikko Nanto

Journal:

The Journal of Pediatrics

Year:

1974

Language:

english

File:

PDF, 1.39 MB

english, 1974

37

Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples

Aula, Pertti, Raivio, Kari, Autio, Seppo

Journal:

Pediatric Research

Year:

1976

Language:

english

File:

PDF, 498 KB

english, 1976

38

Distribution of spontaneous chromosome breaks in human chromosomes

Pertti Aula, Harriet Koskull

Journal:

Year:

1976

Language:

english

File:

PDF, 679 KB

english, 1976

39

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

40

CHROMOSOMES AND VIRAL INFECTIONS

Journal:

Year:

1964

Language:

english

File:

PDF, 336 KB

english, 1964

41

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

42

Inherited (13; 14) translocation and reproduction

Harriet Koskull, Pertti Aula

Journal:

Year:

1974

Language:

english

File:

PDF, 603 KB

english, 1974

43

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

44

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

45

Database for the mutations of the Finnish disease heritage

Kati Sipilä, Pertti Aula

Journal:

Year:

2002

Language:

english

File:

PDF, 252 KB

english, 2002

46

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

47

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

48

Morphology of the placenta in fetal I-cell disease

Juhani Rapola, Pertti Aula

Journal:

Clinical Genetics

Year:

1977

Language:

english

File:

PDF, 950 KB

english, 1977

49

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

50

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 213 KB

english, 2000

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