Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
N Brouwers, K Nuytemans, J van der Zee… - Archives of …, 2007 - jamanetwork.com
… In Table 3 we summarize the medical information of 16 patients of the DR8 founder
family who carried the IVS0 + 5G>C null mutation. Both AD patients DR25.14 and DR142.1 …
family who carried the IVS0 + 5G>C null mutation. Both AD patients DR25.14 and DR142.1 …
Founder mutations in BRCA1 and BRCA2 genes
R Ferla, V Calo, S Cascio, G Rinaldi, G Badalamenti… - Annals of …, 2007 - Elsevier
… Mutation carriers have a conserved haplotype of 3.7 cM … in 18 families, indicating that this
is a founder mutation within the … of these families has made it possible to identify the founder …
is a founder mutation within the … of these families has made it possible to identify the founder …
Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families
JN Weitzel, V Lagos, KR Blazer, R Nelson… - … Biomarkers & Prevention, 2005 - AACR
… The Hispanic 185delAG carrier families share the same … of BRCA mutations among high-risk
Hispanic families in major … of BRCA mutations among Hispanic families attending a high-…
Hispanic families in major … of BRCA mutations among Hispanic families attending a high-…
Founder mutations
D Drayna - Scientific American, 2005 - JSTOR
… base pairs in some carriers, which tells us that the founder mutation is extremely ancient— …
fact that all humans are indeed members of a single family, bound together by the shared …
fact that all humans are indeed members of a single family, bound together by the shared …
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect
S Garritano, F Gemignani, EI Palmero… - … mutation, 2010 - Wiley Online Library
… About 420 families with germline TP53 mutations have been … In this study, we have further
assessed the probability of a founder effect … R337H mutation. These results demonstrate a …
assessed the probability of a founder effect … R337H mutation. These results demonstrate a …
Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia
B Csokay, L Tihomirova, A Stengrevics… - … mutation, 1999 - Wiley Online Library
… 4 cases of breast cancer in the family 52% of high-risk families can be linked to BRCA1 (…
mutation carriers (35%) in our sample set seems to be high considering that most families (10/15…
mutation carriers (35%) in our sample set seems to be high considering that most families (10/15…
Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
L Kadouri, A Hubert, Y Rotenberg… - Journal of medical …, 2007 - jmg.bmj.com
… mutation carriers were conducted in high-risk families, and have suggested an elevated risk
of several types of cancers in carrier families… (CC) in BRCA1 carriers; however, these studies …
of several types of cancers in carrier families… (CC) in BRCA1 carriers; however, these studies …
Founder effect of the Glu89Gln TTR mutation in the Bulgarian population
A Kirov, S Sarafov, Z Pavlova, T Todorov, T Chamova… - Amyloid, 2019 - Taylor & Francis
… This phenomenon, called “founder effect” was proved in carrier families by haplotype …
founder alleles (267 bp and 292 bp) are represented with highest frequency in our mutation carrier …
founder alleles (267 bp and 292 bp) are represented with highest frequency in our mutation carrier …
Founder populations and their uses for breast cancer genetics
SL Neuhausen - Breast Cancer Research, 2000 - Springer
… mutation and of the likelihood of a mutation carrier developing cancer should be possible. For
a given founder mutation a large number of carriers … among families with founder mutations…
a given founder mutation a large number of carriers … among families with founder mutations…
Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation
MA Zariwala, MW Leigh, F Ceppa… - American journal of …, 2006 - atsjournals.org
… The prevalence of mutations in families with defined ODA defect was 13%; no … His unaffected
sibling was a carrier of the novel exon 19 mutation; this mutation was inherited from the …
sibling was a carrier of the novel exon 19 mutation; this mutation was inherited from the …
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