搜索页_+oculocutaneous+albinism+II

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Elsevier电子期刊(14)

在“Elsevier电子期刊”中，命中：14条，耗时：0.029013 秒

在所有数据库中总计命中：25条

1.Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC1R) gene in Tibetan pigs and Landrace pigs

作者：Rui Liu^a ; ^b ; ¹ ; Long Jin^a ; ^b ; ¹ ; Keren Long^a ; ^b ; Jie Chai^a ; ^b ; Jideng Ma^a ; ^b ; Qianzi Tang^a ; ^b ; Shilin Tian^a ; ^b ; ^c ; Yaodong Hu^a ; ^b ; Ling Lin^c ; Xun Wang^a ; ^b ; Anan Jiang^a ; ^b ; Xuewei Li^a ; ^b ; ^{lixuewei9125@126.com" class="auth_mail" title="E-mail the corresponding author} ; Mingzhou Li^a ; ^b ; ^{mingzhou.li@sicau.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：MC1R ; melanocortin 1 receptor ; E ; Extension ; ASIP ; agouti signaling protein ; TYRP1 ; tyrosinase related protein 1 ; EDNRB ; endothelin receptor beta ; KITLG ; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog ; OCA2 ; oculocutaneous albinism II ; CDS ; coding region sequence ; PCR ; polymerase chain reaction ; SNP ; single nucleotide polymorphism ; dN ; the relative frequencies of non-synonymous ; dS ; the relative frequencies of synonymous

刊名：Gene

出版年：2016

2.Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

作者：Valeria Rimoldi ; Letizia Straniero ; Rosanna Asselta ; Lucia Mauri ; Emanuela Manfredini ; Silvana Penco ; Giovanni P. Gesu ; Aless ; ra Del Longo ; Elena Piozzi ; Giulia Sold脿 ; Paola Primignani

关键词：OCA ; Oculocutaneous Albinism ; OA ; Ocular Albinism ; ENT ; Ears ; Nose and Throat ; OCT ; Optical Coherence Tomography ; VEP ; Visual Evoked Potential ; ERG ; Electroretinogram ; PCR ; Polymerase Chain Reaction ; MLPA ; Multiplex Ligation-dependent Probe Amplification ; IVS ; Intervening Sequences ; RT-PCR ; Reverse Transcription PCR ; TMD ; Trans-Membrane Domain ; mRNA ; Messenger RNA ; ECD ; Extra-Cellular Domain

刊名：Gene

出版年：1 March, 2014

3.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

4.Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion

作者：Gerda Neubert^a ; ^b ; ^c ; Katja von Au^c ; Katrin Drossel^c ; Andreas Tzschach^d ; Denise Horn^e ; Renate Nickel^f ; Angela M. Kaindl^a ; ^b ; ^c ; ^{angela.kaindl@charite.de}

关键词：ANA ; anti-nuclear antibody ; array-CGH ; microarray-based comparative genomic hybridization ; c/p-ANCA ; cytoplasmic/perinuclear anti-neutrophil cytoplasmic antibody ; ATP10A/C ; ATPase class V type 10 A/C ; C15orf2 ; chromosome 15 open reading frame 2 ; GABRA5 ; G

刊名：Gene

出版年：2013

5.Distribution of OCA2*481Thr and OCA2*615Arg, associated with hypopigmentation, in several additional populations

作者：Isao Yuasa^a ; ^{yuasai@med.tottori-u.ac.jp"" rel=""nofollow} ; Shinji Harihara^b ; Feng Jin^c ; Hiroaki Nishimukai^d ; Junko Fujihara^e ; Yasuo Fukumori^f ; Haruo Takeshita^e ; Kazuo Umetsu^g ; Naruya Saitou^h

关键词：OCA2 ; Pigmentation ; Population-specific ; Population study ; Single nucleotide polymorphism (SNP)

刊名：Legal Medicine

出版年：2011

6.Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2)

作者：Duangrurdee Wattanasirichaigoon ; Pim Suwannarat ; Supranee Thongpradit

关键词：Mutation ; Oculocutaneous albinism ; P gene

刊名：Journal of Dermatological Science

出版年：2008

7.Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2→qter

作者：Martin Poot ; Marc J. Eleveld ; Ruben van ’ ; t Slot ; Maria M. van Genderen ; Annemarie A. Verrijn Stuart ; Ron Hochstenbach ; Frits A. Beemer

关键词：Oculocutaneous albinism ; Phenotypic variability ; Array CGH ; SNP arrays ; Deletion 15q26 ; IGF1R ; NR2F2

刊名：European Journal of Medical Genetics

出版年：2007

8.Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1

作者：Kunal Ray ; Moumita Chaki ; Mainak Sengupta

关键词：Albinism ; Oculocutaneous albinism type 1 ; OCA1 ; Tyrosinase ; TYR

刊名：Progress in Retinal and Eye Research

出版年：2007

9.Genetics of pigmentation in skin cancer — A review

作者：Dominique Scherer ; Rajiv Kumar

关键词：Pigmentation ; Skin cancer ; MC1R ; ASIP

刊名：Mutation Research/Reviews in Mutation Research

出版年：2010

10.Identification of proteins in the ceroid-like autofluorescent aggregates from liver lysosomes of Beige, a mouse model for human Chediak–Higashi syndrome

作者：Huiwen Zhang ; Don J. Mahuran ; John W. Callahan

关键词：Chediak– ; Higashi syndrome ; Ceroid ; Autofluorescence ; Autophagy

刊名：Molecular Genetics and Metabolism

出版年：2010

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