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Germ-Line Mutation

Known as: Hereditary Mutation, Mutation, Germline, Mutations, Germ-Line 
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes… 
National Institutes of Health

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3 relations
Germline Mutation Abnormalityaspects of radiation effectsphysiological aspects

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
The activation of the RET signaling pathway during embryogenesis is a crucial prerequisite for a directional migration of enteric… 
Highly Cited
2002
Highly Cited
2002
Germline mutation of ARF in a melanoma kindred.
Familial melanoma predisposition is associated with germline mutations at the CDKN2A/ARF locus in up to 40% of families. The… 
Highly Cited
2002
Highly Cited
2002
Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2
The BRCA1 and BRCA2 gene products are thought to play important roles in the processing of DNA damage. To assess whether… 
Highly Cited
2000
Highly Cited
2000
Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer.
Previous studies have determined that the frequency of germ-line p53 mutations in familial breast cancer patients is 1% or less… 
Highly Cited
1999
Highly Cited
1999
CDKN2A (P16INK4a) and CDK4 mutation analysis in 131 Australian melanoma probands: Effect of family history and multiple primary melanomas
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16INK4a and CDK4) was undertaken in 131 probands with… 
Highly Cited
1997
Highly Cited
1997
Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma.
BACKGROUND Approximately 10% of human cutaneous melanomas occur in families in which several members are affected. The familial… 
Highly Cited
1996
Highly Cited
1996
Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer.
Histoprognostic grade is a determinant parameter to select the initial therapeutic strategy in breast cancer. Our aim was to… 
Highly Cited
1995
Highly Cited
1995
Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds.
CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation… 
Highly Cited
1995
Highly Cited
1995
Dose-response of a radiation induction of a germline mutation at a hypervariable mouse minisatellite locus.
Dose-response of an induction of a germline mutation was studied at a hypervariable mouse minisatellite locus, Ms6hm, which… 
Highly Cited
1989
Highly Cited
1989
Analysis of somatic mutations at human minisatellite loci in tumors and cell lines.
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