(Q40549927)

21 September 2017

1 reference

title

Mutagenesis and human genetic disease: dominant mutation frequencies and a characterization of mutational events in mice and humans (English)

1 reference

21 September 2017

1 reference

Favor J

1

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21 September 2017

1 January 1995

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Environmental and Molecular Mutagenesis

21 September 2017

1 reference

21 September 2017

25 Suppl 26

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21 September 2017

81-87

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International Commission for Protection Against Environmental Mutagens and Carcinogens. Spontaneous mutation and its place in risk assessment for chemical mutagens. Report of an ICPEMC Committee

21 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 4. Spontaneous mutations in germ cells of the mouse: estimates of mutation frequencies and a molecular characterization of mutagenic events

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 5. Impact of the molecular spectrum of mutational lesions on estimates of germinal gene-mutation rates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 6. Estimation of genetic risks of exposure to chemical mutagens: relevance of data on spontaneous mutations and of experience with ionizing rad

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

Prime suspect for cystic kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Genetic steps in colorectal cancer.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Localization of the gene for familial adenomatous polyposis on chromosome 5.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

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.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Trinucleotide repeat length instability and age of onset in Huntington's disease

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Genetic risk assessment

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Mapping of six dominant cataract genes in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

The kit ligand: A cell surface molecule altered in steel mutant fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Transmembrane form of the kit ligand growth factor is determined by alternative splicing and is missing in the Sld mutant

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

A mouse model of the aniridia-Wilms tumor deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Analysis of the Pax-3 gene in the mouse mutant splotch

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Identification and characterization of the familial adenomatous polyposis coli gene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Cloning of the T gene required in mesoderm formation in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Functional inactivation of genes by dominant negative mutations

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Identification of deletion mutations and three new genes at the familial polyposis locus

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Allelism tests of 15 dominant cataract mutations in mice

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Natural mutation rates in the house mouse estimates for five specific loci and dominant mutations

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

On the distributions of frequencies of mutation to genes determining harmful traits in man

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

The Dominant W 42 Spotting Phenotype Results from a Missense Mutation in the c- kit Receptor Kinase

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250612

7 January 2021

Identifiers

DOI

10.1002/EM.2850250612

1 reference

21 September 2017

1 reference

PubMed ID

7789366