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内部出版物
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
1.
Detection of the first OCA6 Italian patient in a large cohort of albino subjects
作者:
Emanuela Veniani
;
Lucia Mauri
;
Emanuela Manfredini
;
Giovanni P. Gesu
;
Maria Cristina Patrosso
关键词:
Oculocutaneous albinism
;
OCA6
;
SLC24A5
;
Mutational analysis
刊名:Journal of Dermatological Science
出版年:2016
2.
Corrigendum to “
SLC24A5
and ASIP as phenotypic predictors in Brazilian population for forensic purposes‿[Leg. Med. 17 (4) (2015) 261-266]
作者:
F.A. Lima
;
F.T. Gonç
;
alves
;
C. Fridman
;
cfridman@usp.br" class="auth_mail" title="E-mail the corresponding author
刊名:Legal Medicine
出版年:2016
3.
Is it possible to use Forensic DNA phenotyping in Brazilian population?
作者:
Cintia Fridman
;
cfridman@usp.br" class="auth_mail" title="E-mail the corresponding author
;
Mari Maki Sí
;
ria Godoy Cardena
;
Felí
;
cia de Araú
;
jo Lima
;
Fernanda de Toledo Gonç
;
alves
关键词:
SLC45A2
;
Pigmentation
;
Polymorphisms
;
Forensic DNA phenotyping
;
Brazilian Population
刊名:Forensic Science International: Genetics Supplement Series
出版年:2015
4.
Molecular genetic response of Xiphophorus maculatus-X. couchianus interspecies hybrid skin to UVB exposure
作者:
Yuan Lu
a
;
y_l54@txstate.edu" class="auth_mail" title="E-mail the corresponding author
;
Mikki Bowswell
a
;
William Bowswell
a
;
wb1016@txstate.edu" class="auth_mail" title="E-mail the corresponding author
;
Kuan Yang
a
;
yangkuan81@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Manfred Schartl
b
;
c
;
phch1@biozentrum.uni-wuerzburg.de" class="auth_mail" title="E-mail the corresponding author
;
Ronald B. Walter
a
;
RWalter@txstate.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Ultraviolet light
;
UVB
;
RNA-Seq
;
Differential gene expression
;
Melanoma
;
Allele specific gene expression
;
Hybrid
;
Pigment
刊名:Comparative Biochemistry and Physiology, Part C
出版年:2015
5.
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies
作者:
Lucia Mauri
;
Luca Barone
;
Muna Al Oum
;
Aless
;
ra Del Longo
;
Elena Piozzi
;
Emanuela Manfredini
;
Franco Stanzial
;
Francesco Benedicenti
;
Silvana Penco
;
Maria Cristina Patrosso
关键词:
SLC45A2
;
solute carrier family 45
;
member 2 [Homo sapiens (human)] coding for MATP (membrane-associated transporter protein)
;
TYR
;
tyrosinase [Homo sapiens (human)]
;
OCA2
;
oculocutaneous albinism II [Homo sapiens (human)]
;
TYRP1
;
tyrosinase-related protein 1 [Homo sapiens (human)]
;
SLC24A5
;
solute carrier family 24 (sodium/potassium/calcium exchanger)
;
member 5 [Homo sapiens (human)]
;
C10orf11
;
chromosome 10 open reading frame 11 [Homo sapiens (human)]
;
DCT
;
dopachrome tautomerase [Homo sapiens
刊名:Gene
出版年:1 January, 2014
6.
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
作者:
Monika Reissmann
;
Arne Ludwig
关键词:
¦ÁMSH
;
alpha-melanocyte-stimulating hormone
;
AS
;
Angelman syndrome
;
ATRN
;
Attractin (mahogany)
;
ASIP
;
Agouti signalling protein
;
BLOC
;
Biogenesis of lysosomal organelles complex
;
CCSD
;
Canine congenital sensorineural deafness
;
CHS
;
Chediak-Higashi syndrom
刊名:Seminars in Cell and Developmental Biology
出版年:2013
7.
The golden gene (
SLC24A5
) differentiates US sub-populations within the ethnically admixed Y-SNP haplogroups
作者:
Lynn M. Sims
;
Jack Ballantyne
关键词:
Y-SNPs
;
SLC24A5
;
golden
;
Population differentiation
;
Ethnogeographic ancestry
;
Admixture
刊名:Legal Medicine
出版年:2008
8.
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
作者:
M. Mondal
a
;
1
;
maitreyee.bonny@gmail.com
;
M. Sengupta
a
;
1
;
sengupta.mainak@gmail.com
;
S. Samanta
b
;
swapansamanta53@gmail.com
;
A. Sil
c
;
asimsil@sify.com
;
K. Ray
a
;
kunalray@gmail.com
;
kray@iicb.res.in
关键词:A ;
adenosine
;
Ala
;
alanine
;
Arg
;
arginine
;
AROA
;
autosomal recessive ocular albinism
;
Asn
;
asparagine
;
C
;
cytidine
;
CSIR
;
Council of Scientific and Industrial Research
;
C©\terminal
;
carboxy terminal
;
Cys
;
cysteine
;
DCT
;
DOPAchrome tautomerase
;
db SNP
;
Th
刊名:Gene
出版年:2012
9.
Single multiplex system of twelve SNPs: Validation and implementation for association of SNPs with human eye and hair color
作者:
V.
;
Kastelic
a
;
;
vanja.kastelic@policija.si
;
K.
;
Drobni?
a
;
;
b
关键词:
Single nucleotide polymorphism
;
Human pigmentation
;
Phenotype prediction
刊名:Forensic Science International: Genetics Supplement Series
出版年:2011
10.
Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
作者:
Luca Pagani
;
Toomas Kivisild
;
Ayele Tarekegn
;
Rosemary Ekong
;
Chris Plaster
;
Irene Gallego?Romero
;
Qasim Ayub
;
S.?Qasim Mehdi
;
Mark?G. Thomas
;
Donata Luiselli
;
Endashaw Bekele
;
Neil Bradman
;
David?J. Balding
;
Chris Tyler-Smith
刊名:The American Journal of Human Genetics
出版年:2012
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