Leisti, Jaakko: search on Z-Library

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1

Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures

Aune Hirvasniemi, Pirjo Herrala, Jaakko Leisti

Journal:

Year:

1995

Language:

english

File:

PDF, 512 KB

english, 1995

2

Carrier detection of the fragile X syndrome with flanking RFLP markers and linkage analysis

Marja-Leena Väisänen, Marketta Kähkönen, Jaakko Leisti

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 396 KB

english, 1992

3

Diagnosis of fragile X syndrome by direct mutation analysis

Marja-Leena Väisänen, Marketta Kähkönen, Jaakko Leisti

Journal:

Year:

1994

Language:

english

File:

PDF, 802 KB

english, 1994

4

Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population

Pekka Nokelainen, Leena Alanen-Kurki, Robert Winqvist, Björn Falck, Hannu Somer, Jaakko Leisti, Keith Johnson, Marja-Liisa Savontaus, Leena Peltonen

Journal:

Year:

1990

Language:

english

File:

PDF, 476 KB

english, 1990

5

Uridine enhances expression of the fragile X chromosome in human lymphocytes

Marketta Kähkönen, Ritva Haataja, Jaakko Leisti

Journal:

Year:

1991

Language:

english

File:

PDF, 131 KB

english, 1991

6

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

Anne M. Remes, Sirpa A. Filppula, Heikki Rantala, Jaakko Leisti, Aimo Ruokonen, Satyan Sharma, André H. Juffer, J. Kalervo Hiltunen

Journal:

Journal of Molecular Medicine

Year:

2004

Language:

english

File:

PDF, 486 KB

english, 2004

7

Function tests: determination of precision and criteria of response, and comparison between different tests

Leisti, Seppo, Perheentupa, Jaakko

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 123 KB

english, 1978

8

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

9

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

10

Improved carrier testing for multiple endocrine neoplasia, type 1, using new microsatellite-type DNA markers

Soili Kytölä, Jaakko Leisti, Robert Winqvist, Pasi Salmela

Journal:

Year:

1995

Language:

english

File:

PDF, 371 KB

english, 1995

11

Epidemiology of Moderate to Profound Childhood Hearing Impairments in Northern Finland. Any Changes in Ten Years?

Mäki-Torkko, Elina M., Lindholm, Päivi K., Väyrynen, Mirja R.H., Leisti, Jaakko T., Sorri, Martti J.

Journal:

Scandinavian Audiology

Year:

1998

Language:

english

File:

PDF, 68 KB

english, 1998

12

Muscle-eye-brain disease and Walker-Warburg syndrome

Pirkko Santavuori, Helena Pihko, Kimmo Sainio, Marjatta Lappi, Hannu Somer, Matti Haltia, Christina Raitta, Leena Ketonen, Jaakko Leisti

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 140 KB

english, 1990

13

Neonatal hyperglycemia and chromosome deletion (46,XX,Dq-)

Jaakko Leisti, Kari Raivio, Kai Krohn

Journal:

The Journal of Pediatrics

Year:

1976

Language:

english

File:

PDF, 189 KB

english, 1976

14

Critical Evaluation of the 5-Day Metyrapone Test

Leisti, Seppo, Perheentupa, Jaakko

Journal:

Hormone Research

Year:

1977

Language:

english

File:

PDF, 1.97 MB

english, 1977

15

The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

Rutva Haataja, Marja-Leena Väisänen, Muyao Li, Markku Ryynänen, Jaakko Leisti

Journal:

Year:

1994

Language:

english

File:

PDF, 379 KB

english, 1994

16

Mesomelic Skeletal Dysplasias

KAITILA, ILKKA I., LEISTI, JAAKKO T., RIMOIN, DAVID L.

Journal:

Clinical Orthopaedics and Related Research®

Year:

1976

Language:

english

File:

PDF, 859 KB

english, 1976

17

Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma

Helena Autio-Harmainen, Paavo Pääkkö, Martti Alavaikko, Jaakko Karvonen, Jaakko Leisti

Journal:

Year:

1988

Language:

english

File:

PDF, 788 KB

english, 1988

18

A new RFLP withStuI and probe cX55.7 (DXS105) and its usefulness in carrier analysis of fragile X syndrome

Anne-Mari Rekilä, Marja-Leena Väisänen, Marketta Kähkönen, Jaakko Leisti, Robert Winqvist

Journal:

Year:

1988

Language:

english

File:

PDF, 86 KB

english, 1988

19

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Hannaleena Kokkonen, Jaakko Leisti

Journal:

Year:

2000

Language:

english

File:

PDF, 37 KB

english, 2000

20

Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect

Katri Vuopala, Fatima Pedrosa-Domellöf, Riitta Herva, Jaakko Leisti, Lars-Eric Thornell

Journal:

Acta Neuropathologica

Year:

1995

Language:

english

File:

PDF, 2.80 MB

english, 1995

21

A chromosome survey of 1062 mentally retarded patients. Evaluation of a long-term study at the Rinnekoti Institution, Finland

ULLA GRIPENBERG, KARIN HONGELL, SAKARI KNUUTILA, MARKETTA KäHKÖNEN, JAAKKO LEISTI

Journal:

Year:

1980

Language:

english

File:

PDF, 414 KB

english, 1980

22

Hexokinase Deficiency in Erythrocytes: A New Variant in 5 Members of a Finnish Family

Martti A. Siimes, Eeva-Liisa Rahiala, Jaakko Leisti

Journal:

European Journal of Haematology

Year:

1979

Language:

english

File:

PDF, 320 KB

english, 1979

23

The Gene for a Recessively Inherited Human Childhood Progressive Epilepsy with Mental Retardation Maps to the Distal Short Arm of Chromosome 8

Esa Tahvanainen, Susanna Ranta, Aune Hirvasniemi, Elvi Karila, Jaakko Leisti, Pertti Sistonen, Jean Weissenbach, Anna-Elina Lehesjoki and Albert dela Chapelle

Journal:

Proceedings of the National Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 672 KB

english, 1994

24

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

Shelbourne, Peggy, Winqvist, Robert, Kunert, Erich, Davies, June, Leisti, Jaakko, Thiele, Hannelore, Bachmann, Hans, Buxton, Jessica, Williamson, Bob, Johnson, Keith

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.70 MB

english, 1992

25

The Diagnosis and Staging of Hypocortisolism in Progressing Autoimmune Adrenalitis

Leisti, Seppo, Ahonen, Pekka, Perheentupa, Jaakko

Journal:

Pediatric Research

Year:

1983

Language:

english

File:

PDF, 738 KB

english, 1983

26

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

Katrin Rapakko, Hannaleena Kokkonen, Jaakko Leisti

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 98 KB

english, 2004

27

Germ-Line TP53 Mutations in Finnish Cancer Families Exhibiting Features of the Li-Fraumeni Syndrome and Negative for BRCA1 and BRCA2

Pia Huusko, Katariina Castrén, Virpi Launonen, Ylermi Soini, Kati Pääkkönen, Jaakko Leisti, Kirsi Vähäkangas, Robert Winqvist

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 2.51 MB

english, 1999

28

Chromosome aberrations in lymphocytes of nurses handling cytostatic agents

Eeva Nikula, Kalevi Kiviniitty, Jaakko Leisti and Pentti J Taskinen

Journal:

Scandinavian Journal of Work Environment & Health

Year:

1984

Language:

english

File:

PDF, 532 KB

english, 1984

29

Muscle-eye-brain disease (MEB)

Santavuori, Pirkko, Somer, Hannu, Sainio, Kimmo, Rapola, Juhani, Kruus, Sirkka, Nikitin, Tuija, Ketonen, Leena, Leisti, Jaakko

Journal:

Brain and Development

Year:

1989

Language:

english

File:

PDF, 3.36 MB

english, 1989

30

Two-hour Adrenocorticotropic Hormone Test: Accuracy in the Evaluation of the Hypothalamic- Pituitary-Adrenocortical Axis

Leisti, Seppo, Perheentupa, Jaakko

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 705 KB

english, 1978

31

Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

Tuija Löppönen, Marja-Leena Väisänen, Mirja Luotonen, Minna Allinen, Johanna Uusimaa, PÄIvi Lindholm, Elina Mäki-Torkko, Mirja Väyrynen, Heikki Löppönen, Jaakko Leisti

Journal:

The Laryngoscope

Year:

2003

Language:

english

File:

PDF, 705 KB

english, 2003

32

A lethal autosomal recessive syndrome of multiple congenital contractures

Riitta Herva, Jaakko Leisti, Pertti Kirkinen, Ulpu Seppänen, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 547 KB

english, 1985

33

OPHTHALMOLOGICAL FINDINGS IN A NEW SYNDROME WITH MUSCLE, EYE AND BRAIN INVOLVEMENT

CHRISTINA RAITTA, MAIJA LAMMINEN, PIRKKO SANTAVUORI, JAAKKO LEISTI

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1978

Language:

english

File:

PDF, 491 KB

english, 1978

34

Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families

Pia Huusko, Kati Pääkkönen, Virpi Launonen, Minna Pöyhönen, Guillermo Blanco, Antti Kauppila, Ulla Puistola, Heikki Kiviniemi, Marika Kujala, Jaakko Leisti, Robert Winqvist

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 76 KB

english, 1998

35

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

36

A molecular and cytogenetic study in Finnish Prader-Willi patients

Hannaleena Kokkonen, Marketta Kähkönen, Jaakko Leisti

Journal:

Year:

1995

Language:

english

File:

PDF, 424 KB

english, 1995

37

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Hannaleena Kokkonen,Jaakko Leisti

Journal:

Year:

2000

Language:

english

File:

PDF, 37 KB

english, 2000

38

Prenatal Diagnosis of Single Gene Disorders in Northern Finland

Leisti, Jaakko, Jouppila, Pentti, Mustonen, Aki, Kähkönen, Marketta, Herva, Riitta, Ruokonen, Aimo, Kirkinen, Pertti

Journal:

Annals of Medicine

Year:

1990

Language:

english

File:

PDF, 1.61 MB

english, 1990

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