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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

May, Patrick ; Girard, Simon ; Harrer, Merle ; [et al.]

Elsevier BV ; 2018

In: The Lancet Neurology Vol. 17, No. 8 ( 2018-08), p. 699-708

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In: The Lancet Neurology, Elsevier BV, Vol. 17, No. 8 ( 2018-08), p. 699-708

Type of Medium: Online Resource

ISSN: 1474-4422

URL: Article

DOI: 10.1016/S1474-4422(18)30215-1

Language: English

Publisher: Elsevier BV

Publication Date: 2018

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Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG

Polvi, Anne ; Polvi, Tuomas ; Sevon, Petteri ; [et al.]

Springer Science and Business Media LLC ; 2002

In: European Journal of Human Genetics Vol. 10, No. 10 ( 2002-10), p. 658-665

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 10, No. 10 ( 2002-10), p. 658-665

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/sj.ejhg.5200861

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2002

detail.hit.zdb_id: 2005160-8

SSG: 12

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Distinct immunologic features of finnish Sjögren's syndrome patients with HLA alleles DRB1*0301, DQA1*0501, and DQB1*0201. Alterations in circulating T cell receptor γ/δ subsets

Kerttula, Tuija O. ; Collin, Pekka ; Polvi, Anne ; [et al.]

Wiley ; 1996

In: Arthritis & Rheumatism Vol. 39, No. 10 ( 1996-10), p. 1733-1739

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In: Arthritis & Rheumatism, Wiley, Vol. 39, No. 10 ( 1996-10), p. 1733-1739

Type of Medium: Online Resource

ISSN: 0004-3591 , 1529-0131

URL: Issue

URL: Journal

URL: Article

DOI: 10.1002/art.v39:10

DOI: 10.1002/(ISSN)1529-0131

DOI: 10.1002/art.1780391017

RVK:

XA 10000

RVK:

XA 30325

Language: English

Publisher: Wiley

Publication Date: 1996

detail.hit.zdb_id: 2014367-9

detail.hit.zdb_id: 2754614-7

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High-Resolution Analysis of Genomic Alterations and Human Papillomavirus Integration in Anal Intraepithelial Neoplasia

Gagne, S Eric ; Jensen, Ronald ; Polvi, Anne ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2005

In: JAIDS Journal of Acquired Immune Deficiency Syndromes Vol. 40, No. 2 ( 2005-10-1), p. 182-189

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In: JAIDS Journal of Acquired Immune Deficiency Syndromes, Ovid Technologies (Wolters Kluwer Health), Vol. 40, No. 2 ( 2005-10-1), p. 182-189

Type of Medium: Online Resource

ISSN: 1525-4135

URL: Article

DOI: 10.1097/01.qai.0000179460.61987.33

RVK:

XA 10000

RVK:

XA 51942

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2005

detail.hit.zdb_id: 2038673-4

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The human TYROS gene and pseudogene are located in chromosome 15q14-q25

Polvi, Anne ; Armstrong, Elina ; Lai, Gary ; [et al.]

Elsevier BV ; 1993

In: Gene Vol. 134, No. 2 ( 1993-12), p. 289-293

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In: Gene, Elsevier BV, Vol. 134, No. 2 ( 1993-12), p. 289-293

Type of Medium: Online Resource

ISSN: 0378-1119

URL: Article

DOI: 10.1016/0378-1119(93)90109-G

RVK:

WA 15000

Language: English

Publisher: Elsevier BV

Publication Date: 1993

detail.hit.zdb_id: 1491012-3

SSG: 12

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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 ; [et al.]

Hindawi Limited ; 2013

In: Human Mutation Vol. 34, No. 11 ( 2013-11), p. 1458-1466

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In: Human Mutation, Hindawi Limited, Vol. 34, No. 11 ( 2013-11), p. 1458-1466

Type of Medium: Online Resource

ISSN: 1059-7794

URL: Issue

URL: Article

DOI: 10.1002/humu.2013.34.issue-11

DOI: 10.1002/humu.22389

Language: English

Publisher: Hindawi Limited

Publication Date: 2013

detail.hit.zdb_id: 1498165-8

SSG: 12

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Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

Gaily, Eija ; Anttonen, Anna‐Kaisa ; Valanne, Leena ; [et al.]

Wiley ; 2013

In: Epilepsia Vol. 54, No. 9 ( 2013-09), p. 1577-1585

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In: Epilepsia, Wiley, Vol. 54, No. 9 ( 2013-09), p. 1577-1585

Abstract: Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN 1A and PCHD 19 mutations. Although Dravet syndrome is well recognized, the causes of acute encephalopathy are still elusive, and reported data on ictal electroencephalography ( EEG ) and structural brain abnormalities are scarce. Methods We studied 30 children who fulfilled the clinical criteria for Dravet syndrome. All patients were screened for SCN 1A mutations and 25 for POLG mutations with bidirectional sequencing. Clinical data, including etiologic studies done as part of the clinical workup, were collected from hospital charts. Ictal video‐ EEG recordings and magnetic resonance ( MR ) images were reanalyzed by the authors. Key Findings SCN 1A mutations were found in 25 patients (83%). Two SCN 1A mutation–negative patients had chromosomal translocations involving chromosomes 9 and X, and one had a mutation in PCDH 19 . Prolonged seizures were associated with acute encephalopathy in three SCN 1A mutation–positive patients. One showed evidence of a significant hypoxic–ischemic event during status epilepticus. The other two demonstrated new persistent neurologic deficits postictally; they both carried heterozygous POLG variants (p.Trp748Ser or p.Gly517Val). Hippocampal sclerosis or loss of gray–white matter definition in the temporal lobe was observed in 7 of 18 patients who had MRI after age 3 years (39%). Motor seizures were recorded on video‐ EEG for 15 patients, of whom 12 were younger than 6 years at recording; 11 patients (73%) showed posterior onsets. Significance Our data imply that a heterozygous X;9 translocation and rare POLG variants may modify the clinical features of Dravet syndrome. The latter may increase susceptibility for acute encephalopathy. Temporal lobe abnormalities are common in patients imaged after 3 years of age. Focal seizures seem to localize predominantly in the posterior regions in young children with Dravet syndrome.

Type of Medium: Online Resource

ISSN: 0013-9580 , 1528-1167

URL: Issue

URL: Article

DOI: 10.1111/epi.2013.54.issue-9

DOI: 10.1111/epi.12256

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2013

detail.hit.zdb_id: 2002194-X

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Characterization of a Common Susceptibility Locus for Asthma-Related Traits

Laitinen, Tarja ; Polvi, Anne ; Rydman, Pia ; [et al.]

American Association for the Advancement of Science (AAAS) ; 2004

In: Science Vol. 304, No. 5668 ( 2004-04-09), p. 300-304

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In: Science, American Association for the Advancement of Science (AAAS), Vol. 304, No. 5668 ( 2004-04-09), p. 300-304

Abstract: Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping design, leading to the identification of a 133-kilobase risk-conferring segment containing two genes. One of these coded for an orphan G protein–coupled receptor named GPRA (G protein–coupled receptor for asthma susceptibility), which showed distinct distribution of protein isoforms between bronchial biopsies from healthy and asthmatic individuals. In three cohorts from Finland and Canada, single nucleotide polymorphism–tagged haplotypes associated with high serum immunoglobulin E or asthma. The murine ortholog of GPRA was up-regulated in a mouse model of ovalbumin-induced inflammation. Together, these data implicate GPRA in the pathogenesis of atopy and asthma.

Type of Medium: Online Resource

ISSN: 0036-8075 , 1095-9203

URL: Article

DOI: 10.1126/science.1090010

RVK:

TA 1000

RVK:

WA 15000

Language: English

Publisher: American Association for the Advancement of Science (AAAS)

Publication Date: 2004

detail.hit.zdb_id: 128410-1

detail.hit.zdb_id: 2066996-3

detail.hit.zdb_id: 2060783-0

SSG: 11

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Cerebral metabolic rate for glucose after neonatal hypoglycaemia

Kinnala, Anne ; Nuutila, Pirjo ; Ruotsalainen, Ulla ; [et al.]

Elsevier BV ; 1997

In: Early Human Development Vol. 49, No. 1 ( 1997-7), p. 63-72

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In: Early Human Development, Elsevier BV, Vol. 49, No. 1 ( 1997-7), p. 63-72

Type of Medium: Online Resource

ISSN: 0378-3782

URL: Article

DOI: 10.1016/S0378-3782(97)01875-6

Language: English

Publisher: Elsevier BV

Publication Date: 1997

detail.hit.zdb_id: 1500313-9

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Leukoencephalopathy, cerebral calcifications and cysts: a family study

Karlinger, Kinga ; Tárnoki, Ádám Domonkos ; Tárnoki, Dávid László ; [et al.]

Springer Science and Business Media LLC ; 2014

In: Journal of Neurology Vol. 261, No. 10 ( 2014-10), p. 1911-1916

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In: Journal of Neurology, Springer Science and Business Media LLC, Vol. 261, No. 10 ( 2014-10), p. 1911-1916

Type of Medium: Online Resource

ISSN: 0340-5354 , 1432-1459

URL: Article

DOI: 10.1007/s00415-014-7393-9

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2014

detail.hit.zdb_id: 1421299-7

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