Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. (Q24538735)

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Language	Label	Description	Also known as
English	Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 July 2017

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

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6 July 2017

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Adolfsson R

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6 July 2017

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Pekkarinen P

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6 July 2017

Hovatta I

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6 July 2017

Hakola P

3

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6 July 2017

Järvi O

4

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6 July 2017

Kestilä M

5

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6 July 2017

Lenkkeri U

6

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6 July 2017

Holmgren G

8

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6 July 2017

Nylander PO

9

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Tranebjaerg L

10

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6 July 2017

Terwilliger JD

11

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Lönnqvist J

12

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6 July 2017

Peltonen L

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1 February 1998

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6 July 2017

American Journal of Human Genetics

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6 July 2017

62

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6 July 2017

2

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6 July 2017

362-372

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Europe PubMed Central

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6 July 2017

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

1 reference

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

24 March 2017

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

1 reference

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

24 March 2017

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

1 reference

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24 March 2017

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

1 reference

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24 March 2017

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

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24 March 2017

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24 March 2017

Strategies for multilocus linkage analysis in humans

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

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24 March 2017

Familial non-specific dementia maps to chromosome 3

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24 March 2017

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

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24 March 2017

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

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24 March 2017

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

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24 March 2017

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

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24 March 2017

Easy calculations of lod scores and genetic risks on small computers

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7 April 2017

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

1 reference

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7 April 2017

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

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7 April 2017

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

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27 September 2017

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

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27 September 2017

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

1 reference

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27 September 2017

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

1 reference

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27 September 2017

The expanding clinical spectrum of mitochondrial diseases

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27 September 2017

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

1 reference

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27 September 2017

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

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27 September 2017

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

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27 September 2017

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

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27 September 2017

Lipomembranous osteodysplasia: a case report

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Hereditary diseases in Finland; rare flora in rare soul

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27 September 2017

Spectrum of mutations in aspartylglucosaminuria

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27 September 2017

A case of membranous lipodystrophy with skeletal involvement.

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Messages from an isolate: lessons from the Finnish gene pool

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27 September 2017

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

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30 May 2018

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

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30 May 2018

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

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An integrated metric physical map of human chromosome 19.

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30 May 2018

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

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Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

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30 May 2018

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

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

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30 May 2018

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30 May 2018

Case report 381: Membranous lipodystrophy (MLD).

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30 May 2018

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Hereditary polycystic osteodysplasia with progressive dementia in Sweden.

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29 November 2018

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

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

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29 November 2018

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

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12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Membranous lipodystrophy (Nasu-Hakola disease)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membranous lipodystrophy of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage probability and its approximate confidence interval under possible heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipomembranous polycystic osteodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463329

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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

7 January 2021

based on heuristic

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Genome maps 7. The human transcript map. Wall chart

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

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Europe PubMed Central

PubMed publication ID

6 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 July 2017

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