Positional cloning: let's not call it reverse anymore (Q55036853)

16 June 2018

title

Positional cloning: let's not call it reverse anymore (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301996

10 September 2022

1

Collins FS

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16 June 2018

publication date

1 April 1992

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16 June 2018

language of work or name

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16 June 2018

volume

1

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16 June 2018

issue

1

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16 June 2018

page(s)

3-6

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16 June 2018

Reverse genetics and human disease

cites work

1 reference

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification and characterization of the familial adenomatous polyposis coli gene

21 January 2018

1 reference

Cloning of a gene that is rearranged in patients with choroideraemia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

21 January 2018

1 reference

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

21 January 2018

1 reference

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

21 January 2018

1 reference

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

21 January 2018

1 reference

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 January 2018

1 reference

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 January 2018

1 reference

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

21 January 2018

1 reference

Partial sequence of a candidate gene for the Marfan syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Heritable unstable DNA sequences

1 reference

7 January 2021

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

1 reference

7 January 2021

Direct selection: a method for the isolation of cDNAs encoded by large genomic regions

1 reference

7 January 2021

cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments

1 reference

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

7 January 2021

Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat

1 reference

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Identification of FAP locus genes from chromosome 5q21

1 reference

7 January 2021

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

1 reference

7 January 2021

Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA.

1 reference

7 January 2021

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0492-3

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16 June 2018

Dimensions Publication ID

1023089865

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1 reference

16 June 2018