Jarvela, Irma: search on Z-Library

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1

Subjective face recognition difficulties, aberrant sensibility, sleeping disturbances and aberrant eating habits in families with Asperger syndrome

Taina Nieminen-von Wendt, Juulia E Paavonen, Tero Ylisaukko-Oja, Susan Sarenius, Tiia Källman, Irma Järvelä, Lennart von Wendt

Journal:

Year:

2005

Language:

english

File:

PDF, 537 KB

english, 2005

2

Causes of Death of Professional Musicians in the Classical Genre

Kuusi, Tuire, Haukka, Jari, Myllykangas, Liisa, Järvelä, Irma

Journal:

Medical problems of performing artists

Year:

2019

Language:

english

File:

PDF, 276 KB

english, 2019

3

Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families

Tero Ylisaukko-oja, Maricela Alarcón, Rita M. Cantor, Mari Auranen, Raija Vanhala, Elli Kempas, Lennart von Wendt, Irma Järvelä, Daniel H. Geschwind, Leena Peltonen

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 159 KB

english, 2006

4

Identification of a variant associated with adult-type hypolactasia

Enattah, Nabil Sabri, Sahi, Timo, Savilahti, Erkki, Terwilliger, Joseph D., Peltonen, Leena, Järvelä, Irma

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

5

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bo

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.34 MB

english, 2008

6

Genomics approaches to study musical aptitude

Oikkonen, Jaana, Järvelä, Irma

Journal:

Year:

2014

Language:

english

File:

PDF, 325 KB

english, 2014

7

Prenatally detected paternal uniparental chromosome 13 isodisomy

Irma Järvelä, Minna Savukoski, Pirkko Ämmälä, Harriet Von Koskull

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 134 KB

english, 1998

8

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

Juhani Rapola, Jaana Lähdetie, Juha Isosomppi, Päivi Helminen, Maila Penttinen, Irma Järvelä

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

9

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)

Tarja Salonen, Irma Järvelä, Leena Peltonen, Anu Jalanko

Journal:

Year:

2000

Language:

english

File:

PDF, 221 KB

english, 2000

10

Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p

Irma Järvelä, Pirkko Santavuori, Lea Puhakka, Matti Haltia, Leena Peltonen

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 313 KB

english, 1992

11

Physical map of the region containing the gene for Batten disease (CLN3)

Irma E. Järvelä, Hannah M. Mitchison, David F. Callen, Terry J. Lerner, Norman A. Doggett, Peter E. M. Taschner, R. Mark Gardiner, Sara E. Mole

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 337 KB

english, 1995

12

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

Julie Sharp, Minna Savukoski, Ruth B. Wheeler, Juliette Harris, Irma Järvelä, Leena Peltonen, Mark Gardiner, Ruth Williams

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 195 KB

english, 1995

13

MECP2 mutation analysis in patients with mental retardation

Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, Irma Järvelä

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

14

PAK3 related mental disability: Further characterization of the phenotype

Maarit Peippo, Anne M. Koivisto, Teppo Särkämö, Marjatta Sipponen, Harriet von Koskull, Tero Ylisaukko-oja, Karola Rehnström, Guy Froyen, Jaakko Ignatius, Irma Järvelä

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 391 KB

english, 2007

15

Allelic variants in HTR3C show association with autism

Karola Rehnström, Tero Ylisaukko-oja, Ilona Nummela, Pekka Ellonen, Elli Kempas, Raija Vanhala, Lennart von Wendt, Irma Järvelä, Leena Peltonen

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

16

Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion)

Dr. Irma Järvelä, Taina Autti, Sirkka Lamminranta, Laura Åberg, Raili Raininko, Pirkko Santavuori

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 445 KB

english, 1997

17

Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden

Mikko Kuokkanen, Ralf Butzow, Heli Rasinperä, Krzysztof Medrek, Mef Nilbert, Susanne Malander, Jan Lubinski, Irma Järvelä

Journal:

International Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

18

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

Juha M. Holopainen, Juhani Saarikoski, Paavo K. J. Kinnunen, Irma Järvelä

Journal:

Year:

2001

Language:

english

File:

PDF, 207 KB

english, 2001

19

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

Auranen, Mari, Ala-Mello, Sirpa, Turunen, Joni A., Jarvela, Irma

Journal:

Kidney International

Year:

2001

Language:

english

File:

PDF, 259 KB

english, 2001

20

Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana

Suvi Torniainen, M Iqbal Parker, Ville Holmberg, Elisa Lahtela, Collet Dandara, Irma Jarvela

Journal:

Year:

2009

Language:

english

File:

PDF, 164 KB

english, 2009

21

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

Suvi Torniainen, Roberta Freddara, Taina Routi, Carolien Gijsbers, Carlo Catassi, Pia Höglund, Erkki Savilahti, Irma Järvelä

Journal:

BMC Gastroenterology

Year:

2009

Language:

english

File:

PDF, 1.66 MB

english, 2009

22

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

A Inkeri Lokki, Irma Järvelä, Elisabeth Israelsson, Bakary Maiga, Marita Troye-Blomberg, Amagana Dolo, Ogobara K Doumbo, Seppo Meri, Ville Holmberg

Journal:

Malaria Journal

Year:

2011

Language:

english

File:

PDF, 323 KB

english, 2011

23

Temporal profiles of age-dependent changes in cytokine mRNA expression and glial cell activation after status epilepticus in postnatal rat hippocampus

Juha T Järvelä, Francisco R Lopez-Picon, Anna Plysjuk, Saku Ruohonen, Irma E Holopainen

Journal:

Journal of Neuroinflammation

Year:

2011

Language:

english

File:

PDF, 1.71 MB

english, 2011

24

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1)

Irma Järvelä, Juhani Rapola, Leena Peltonen, Lea Puhakka, Jouni Vesa, Pirkko Ämmälä, Riitta Salonen, Markku Ryynänen, Pertti Haring, Aki Mustonen, Pirkko Santavuori

Journal:

Prenatal Diagnosis

Year:

1991

Language:

english

File:

PDF, 391 KB

english, 1991

25

Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1)

Marjo Kestilä, Irma Järvelä

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 59 KB

english, 2003

26

AGTR2mutation and mental retardation: a reply

Tero Ylisaukko-oja, Irma Järvelä

Journal:

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

27

Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation

Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Carola Tengström, Jaana Lähdetie, Irma Järvelä

Journal:

Year:

2004

Language:

english

File:

PDF, 188 KB

english, 2004

28

Screening ofBCS1Lmutations in severe neonatal disorders suspicious for mitochondrial cause

Vineta Fellman, Susanna Lemmelä, Antti Sajantila, Helena Pihko, Irma Järvelä

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

29

Age-dependent cyclooxygenase-2 induction and neuronal damage after status epilepticus in the postnatal rat hippocampus

Juha T. Järvelä, Francisco R. Lopez-Picon, Irma E. Holopainen

Journal:

Year:

2008

Language:

english

File:

PDF, 359 KB

english, 2008

30

Genetic Variant of Lactase-Persistent C/T-13910 Is Associated with Bone Fractures in Very Old Age

Nabil S. Enattah, Raimo Sulkava, Pirjo Halonen, Kimmo Kontula, Irma Järvelä

Journal:

Journal of the American Geriatrics Society

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

31

Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population

Eva Forsman, Rita M. Cantor, Ake Lu, Aldur Eriksson, Johan Fellman, Irma Järvelä, Henrik Forsius

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2007

Language:

english

File:

PDF, 677 KB

english, 2007

32

Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions

Sanna Seitsonen, Irma Järvelä, Seppo Meri, Petri Tommila, Päivi Ranta, Ilkka Immonen

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

33

Linkage and candidate gene studies of autism spectrum disorders in European populations

Holt, Richard, Barnby, Gabrielle, Maestrini, Elena, Bacchelli, Elena, Brocklebank, Denise, Sousa, Inês, Mulder, Erik J, Kantojärvi, Katri, Järvelä, Irma, Klauck, Sabine M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

34

Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations

Holt, Richard, Barnby, Gabrielle, Maestrini, Elena, Bacchelli, Elena, Brocklebank, Denise, Sousa, Inês, Mulder, Erik J, Kantojärvi, Katri, Järvelä, Irma, Klauck, Sabine M

Journal:

European Journal of Human Genetics

Year:

2010

File:

PDF, 81 KB

2010

35

Family-based association study of DYX1C1 variants in autism

Ylisaukko-oja, Tero, Peyrard-Janvid, Myriam, Lindgren, Cecilia M, Rehnström, Karola, Vanhala, Raija, Peltonen, Leena, Järvelä, Irma, Kere, Juha

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 79 KB

english, 2004

36

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)

Katri Kantojärvi, Ilona Kotala, Karola Rehnström, Tero Ylisaukko-oja, Raija Vanhala, Taina Nieminen von Wendt, Lennart von Wendt, Irma Järvelä

Journal:

Autism Research

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

37

Lactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern Russians

Yulia Khabarova, Suvi Tornianen, Sari Tuomisto, Irma Järvelä, Pekka Karhunen, Mauri Isokoski, Kari Mattila

Journal:

BMC Gastroenterology

Year:

2011

Language:

english

File:

PDF, 157 KB

english, 2011

38

Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis

Elina Hellsten, Jouni Vesa, Marcy C. Speer, Tomi P. Mäkelä, Irma Järvelä, Kari Alitalo, Jürg Ott, Leena Peltonen

Journal:

Year:

1993

File:

PDF, 386 KB

1993

39

YAC and Cosmid Contigs Spanning the Batten Disease (CLN3) Region at 16p12.1–p11.2

IRMA E. JÄRVELÄ, HANNAH M. MITCHISON, ANGELA M. O'RAWE, PATRICIA B. MUNROE, PETER E.M. TASCHNER, NANNEKE DEVOS, TERRY J. LERNER, KEN L. D'ARIGO, DAVID F. CALLEN, ANDREW D. THOMPSON, MAREE KNIGHT, BABE

Journal:

Year:

1995

Language:

english

File:

PDF, 200 KB

english, 1995

40

Auditory event related potentials as tools to reveal cognitive late effects in childhood cancer patients

Liisa S. Järvelä, Saija Hurme, Irma E. Holopainen, Maria Leino, Anne-Mari Hatanpää, Hannu Mikola, Tarmo Kärki, Toivo T. Salmi, Päivi M. Lähteenmäki

Journal:

Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 522 KB

english, 2011

41

Pathogenesis of age-related macular degeneration: Disrupted binding of complement factor H to C-reactive protein

Matti Laine, Hanna Jarva, Sanna Seitsonen, Karita Haapasalo, Markus J. Lehtinen, Nina Lindeman, Irma Järvelä, T. Sakari Jokiranta, Gregory S. Hageman, Ilkka Immonen, Seppo Meri

Journal:

Molecular Immunology

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

42

Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD)

Sanna Seitsonen, Päivi Onkamo, Suvi Torniainen, Milla Ihalainen, Ilkka Immonen, Seppo Meri, Irma Järvelä

Journal:

Molecular Immunology

Year:

2010

Language:

english

File:

PDF, 140 KB

english, 2010

43

Kainic acid-induced neurodegeneration and activation of inflammatory processes in organotypic hippocampal slice cultures: Treatment with cyclooxygenase-2 inhibitor does not prevent neuronal death

Juha T. Järvelä, Saku Ruohonen, Tiina-Kaisa Kukko-Lukjanov, Anna Plysjuk, Francisco R. Lopez-Picon, Irma E. Holopainen

Journal:

Neuropharmacology

Year:

2011

Language:

english

File:

PDF, 1.64 MB

english, 2011

44

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25–q29 inversion in an individual with language delay

Dorota A. Kwasnicka-Crawford, Andrew R. Carson, Wendy Roberts, Anne M. Summers, Karola Rehnström, Irma Järvelä, Stephen W. Scherer

Journal:

Year:

2005

Language:

english

File:

PDF, 1.27 MB

english, 2005

45

Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene

Irma Järvelä, Nabil Sabri Enattah, Jorma Kokkonen, Teppo Varilo, Erkki Savilahti, Leena Peltonen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.31 MB

english, 1998

46

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin Ayers, Elli Kempas, Tero Ylisaukko-oja, Janet S. Sinsheimer, Leena Peltonen, Irma Järvelä

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.09 MB

english, 2002

47

Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency

Mikko Kuokkanen, Jorma Kokkonen, Nabil Sabri Enattah, Tero Ylisaukko-oja, Hanna Komu, Teppo Varilo, Leena Peltonen, Erkki Savilahti, Irma Järvelä

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 754 KB

english, 2006

48

Lack of Complement Inhibitors in the Outer Intracranial Artery Aneurysm Wall Associates with Complement Terminal Pathway Activation

Riikka Tulamo, Juhana Frösen, Anders Paetau, Sanna Seitsonen, Juha Hernesniemi, Mika Niemelä, Irma Järvelä, Seppo Meri

Journal:

The American Journal of Pathology

Year:

2010

Language:

english

File:

PDF, 1.78 MB

english, 2010

49

The first case of congenital lactase deficiency in Italy

S. Gatti, M. Biagioni, C. Biagetti, V. Romagnoli, M. Pambianchi, C. Carini, I. D’Alba, Suvi Torniainen, Erkki Savilahti, Irma Järvelä, C. Catassi

Journal:

Digestive and Liver Disease

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

50

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations

Satu Kinnunen, Sandra Bonache, Teresa Casals, Sanni Monto, Erkki Savilahti, Juha Kere, Irma Järvelä

Journal:

Journal of Cystic Fibrosis

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005