(Q24538735)

6 July 2017

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. (English)

1 reference

6 July 2017

1 reference

1 reference

7

Adolfsson R

1 reference

6 July 2017

Pekkarinen P

1

1 reference

6 July 2017

Hovatta I

2

1 reference

6 July 2017

Hakola P

3

1 reference

6 July 2017

Järvi O

4

1 reference

6 July 2017

Kestilä M

5

1 reference

6 July 2017

Lenkkeri U

6

1 reference

6 July 2017

Holmgren G

8

1 reference

6 July 2017

Nylander PO

9

1 reference

6 July 2017

Tranebjaerg L

10

1 reference

6 July 2017

Terwilliger JD

11

1 reference

6 July 2017

Lönnqvist J

12

1 reference

6 July 2017

Peltonen L

13

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 February 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

62

1 reference

6 July 2017

362-372

1 reference

6 July 2017

2

1 reference

Disease gene mapping in isolated human populations: the example of Finland

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A Gene Map of the Human Genome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Calpain: novel family members, activation, and physiologic function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Familial non-specific dementia maps to chromosome 3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Selective localization of amyloid precursor-like protein 1 in the cerebral cortex postsynaptic density

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Easy calculations of lod scores and genetic risks on small computers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A general method for isolation of high molecular weight DNA from eukaryotes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

The expanding clinical spectrum of mitochondrial diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Lipomembranous osteodysplasia: a case report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Hereditary diseases in Finland; rare flora in rare soul

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Spectrum of mutations in aspartylglucosaminuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A case of membranous lipodystrophy with skeletal involvement.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Messages from an isolate: lessons from the Finnish gene pool

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

An integrated metric physical map of human chromosome 19.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Nasu-Hakola's disease (membranous lipodystrophy). A case report

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Case report 381: Membranous lipodystrophy (MLD).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

A haplotype-based 'haplotype relative risk' approach to detecting allelic associations.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Hereditary polycystic osteodysplasia with progressive dementia in Sweden.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Clinical advances in degenerative dementias.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Likelihood ratio tests for linkage and linkage disequilibrium: asymptotic distribution and power.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376898

Perspectives of identity by descent (IBD) mapping in founder populations

29 November 2018

1 reference

12 December 2020

Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case

1 reference

12 December 2020

Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria

1 reference

12 December 2020

[Membranous lipodystrophy (Nasu-Hakola disease)]

1 reference

12 December 2020

Membranous lipodystrophy of bone

1 reference

12 December 2020

Linkage probability and its approximate confidence interval under possible heterogeneity

1 reference

12 December 2020

Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations

1 reference

12 December 2020

Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases

1 reference

12 December 2020

Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia)

1 reference

12 December 2020

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

1 reference

12 December 2020

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background

1 reference

12 December 2020

Lipomembranous polycystic osteodysplasia

1 reference

12 December 2020

Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301722

7 January 2021

inferred from DOI database lookup

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301722

7 January 2021

inferred from DOI database lookup

Genome maps 7. The human transcript map. Wall chart

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301722

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301722

1 reference

6 July 2017

1 reference

6 July 2017

1 reference