(Q63383632)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

The rise and fall of positional cloning? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

publication date

1 April 1993

1 reference

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29 October 2019

1 reference

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29 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

277-279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7981743%20AND%20SRC:MED&resulttype=core&format=json

Positional cloning: let's not call it reverse anymore

29 October 2019

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7 January 2021

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

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7 January 2021

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

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7 January 2021

Isolation of the human Xp21 glycerol kinase gene by positional cloning

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7 January 2021

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue

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7 January 2021

A second-generation linkage map of the human genome

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7 January 2021

The human Y chromosome: overlapping DNA clones spanning the euchromatic region

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7 January 2021

Continuum of overlapping clones spanning the entire human chromosome 21q.

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7 January 2021

Complementary DNA sequencing: expressed sequence tags and human genome project

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7 January 2021

Sequence identification of 2,375 human brain genes

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7 January 2021

Chromosomal assignment of 46 brain cDNAs

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7 January 2021

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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7 January 2021

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

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7 January 2021

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

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7 January 2021

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

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7 January 2021

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

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7 January 2021

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

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7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

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7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

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7 January 2021

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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7 January 2021

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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7 January 2021

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

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7 January 2021

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

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7 January 2021

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

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7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

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https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene

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https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

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7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Cloning of a gene that is rearranged in patients with choroideraemia

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7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Identification of FAP locus genes from chromosome 5q21

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7 January 2021

Identification and characterization of the familial adenomatous polyposis coli gene

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7 January 2021

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Isolation and characterization of a candidate gene for Norrie disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

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7 January 2021

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-277

7 January 2021

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

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7 January 2021

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

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7 January 2021

Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

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7 January 2021

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene

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7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

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7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

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7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

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7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

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7 January 2021

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

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7 January 2021