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在“Elsevier电子期刊”中，命中：945条，耗时：0.0129952 秒

在所有数据库中总计命中：1,586条

1.Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

作者：Ron Bochner¹ ; ¹² ; Liat Samuelov¹ ; ² ; ¹² ; Ofer Sarig¹ ; ¹² ; Qiaoli Li³ ; Christopher A. Adase² ; Ofer Isakov⁴ ; ⁵ ; Natalia Malchin¹ ; Dan Vodo¹ ; ⁶ ; Ronna Shayevitch⁶ ; Alon Peled¹ ; ⁶ ; Benjamin D. Yu² ; Gilad Fainberg¹ ; Emily Warshauer¹ ; Noam Adir⁷ ; Noam Erez⁸ ; Andrea Gat⁹ ; Yehonatan Gottlieb¹⁰ ; Tova Rogers¹ ; Mor Pavlovsky¹ ; Ilan Goldberg¹ ; Noam Shomron⁴ ; ⁵ ; Aileen Sandilands¹¹ ; Linda E. Campbell¹¹ ; Stephanie MacCallum¹¹ ; W. H. Irwin McLean¹¹ ; Gil Ast⁶ ; Richard L. Gallo² ; Jouni Uitto³ ; Eli Sprecher¹ ; ⁶ ; ^{elisp@tlvmc.gov.il}

关键词：ARCI ; autosomal recessive congenital ichthyose ; PCR-RFLP ; PCR-restriction fragment length polymorphism ; siRNA ; small interfering RNA

刊名：Journal of Investigative Dermatology

出版年：2017

2.An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis

作者：Amy S. Paller ; MD ; MS^a ; ^{apaller@northwestern.edu} ; Yael Renert-Yuval ; MD^b ; Maria Suprun ; MPH^c ; Hitokazu Esaki ; MD^b ; ^d ; Margeaux Oliva ; BA^b ; Thy Nhat Huynh ; MD^a ; Benjamin Ungar ; BA^d ; Norma Kunjravia ; MD^d ; Rivka Friedland ; MD^a ; Xiangyu Peng ; MSc^b ; Xiuzhong Zheng ; MSc^d ; Yeriel D. Estrada ; BSc^b ; James G. Krueger ; MD ; PhD^c ; Keith A. Choate^e ; Mayte Suá ; rez-Fariñ ; as ; PhD^b ; ^c ; ^d ; ^f ; Emma Guttman-Yassky ; MD ; PhD^b ; ^d

关键词：Epidermis ; ichthyosis ; inflammation ; autosomal recessive congenital ichthyosis ; congenital ichthyosiform erythroderma ; lamellar ichthyosis ; Netherton syndrome ; epidermolytic ichthyosis ; skin ; IL-17 ; TNF-α

刊名：Journal of Allergy and Clinical Immunology

出版年：2017

3.A novel TECTA mutation causes ARNSHL

作者：Samira Asgharzade^a ; ^e ; Mohammad Amin Tabatabaiefar^b ; Mohammad Hossein Modarressi^a ; Mohammad Hossein Ghahremani^a ; Somayeh Reiisi^c ; Parisa Tahmasebi^d ; Fatemeh Abdollahnejad^d ; Morteza Hashemzadeh Chaleshtori^e ; ^{mchalesh@yahoo.com}

关键词：TECTA ; Hearing loss ; Linkage analysis ; Mutation ; Iran

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2017

4.PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data

作者：Mona Entezam¹ ; Mohammad Reza Khatami² ; Fereshteh Saddadi³ ; Mohsen Ayati⁴ ; Jamshid Roozbeh⁵ ; Mohammad Keramatipour¹ ; ^{keramatipour@sina.tums.ac.ir" class="auth_mail" title="E-mail the corresponding author}

关键词：Autosomal dominant polycystic kidney disease ; Linkage analysis ; Mutation screening ; Recombination

刊名：Kidney Research and Clinical Practice

出版年：2016

5.Population Genetic data for 15 Autosomal STR markers in Eastern Turkey

作者：Mehmet Tokdemir^a ; ^{mehtokdemir@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Ferhat Turgut Tunç ; ez^a ; ^{ftuncez@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Nazif Harun Vicdanli^b ; ^{drharun83@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Short tandem repeats ; Turkey population ; Allele frequencies ; DNA typing

刊名：Gene

出版年：2016

6.Genetic polymorphism of 22 autosomal STR markers in a Han population of Southern China

作者：Qiu-Ling Liu ^{liuql@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Zi-Xiang Chen ^{lanczx@163.com" class="auth_mail" title="E-mail the corresponding author} ; Chu-Guang Chen ^{mr_ccg@126.com" class="auth_mail" title="E-mail the corresponding author} ; De-Jian Lu ; ^{lvdejian@mail.sysu.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：Short tandem repeats (STR) ; Population data ; Linkage disequilibrium ; Kinship analysis ; Chinese Han population

刊名：Forensic Science International: Genetics

出版年：2016

7.Ethnically distinct populations of historical Tibet exhibit distinct autosomal STR compositions

作者：Thupten Tsering^b ; Tenzin Gayden^c ; Shilpa Chennakrishnaiah^d ; Areej Bukhari^b ; Ralph Garcia-Bertrand^a ; ^{rbertrand@coloradocollege.edu" class="auth_mail" title="E-mail the corresponding author} ; Rene J. Herrera^a

关键词：STR ; Short Tandem Repeats ; CA ; Correspondence Analysis ; NJ ; Neighbor Joining ; TAR ; Tibet Autonomous Region ; EPAS1 ; Encodes the HIF-2α sub-unit ; EGLN1 ; Encodes HIF prolyl 4-hydroxylase 2 (PHD2)] ; HIF ; Hypoxia inducible transcription factor ; mtDNA ; Mitochondrial DNA ; PCR ; Polymerase chain reaction ; HWE ; Hardy&ndash ; Weinberg equilibrium ; PD ; Power of discrimination ; MP ; Matching probability ; PIC ; Polymorphic information content ; PE ; Power of exclusion ; TPI ; Typical paternity index ; Ho ; Observed het

刊名：Gene

出版年：2016

8.Analysis of uni and bi-parental markers in mixture samples: Lessons from the 22nd GHEP-ISFG Intercomparison Exercise

作者：U. Toscanini^a ; ^{utoscanini@pricai.com.ar" class="auth_mail" title="E-mail the corresponding author} ; L. Gusmã ; o^b ; ^c ; ^d ; M.C. Á ; lava Narvá ; ez^e ; J.C. Á ; lvarez^f ; L. Baldassarri^g ; A. Barbaro^h ; G. Berardi^a ; E. Betancor Herná ; ndezⁱ ; M. Camargo^j ; J. Carreras-Carbonell^k ; J. Castro^l ; S.C. Costa^m ; P. Coufalovaⁿ ; V. Domí ; nguez^o ; E. Fagundes de Carvalho^b ; S.T.G. Ferreira^p ; S. Furfuro^q ; O. Garcí ; a^r ; A. Goios^c ; ^d ; R. Gonzá ; lez^s ; A. Gonzá ; lez de la Vega^t ; A. Gorostiza^u ; A. Herná ; ndez^v ; S. Jimé ; nez Moreno^w ; M.V. Lareu^x ; A. Leó ; n Almagro^y ; M. Marino^z ; G. Martí ; nez^A ; M.C. Miozzo^B ; N.M. Modesti^C ; V. Onofri^D ; S. Pagano^E ; B. Pardo Arias^F ; S. Pedrosa^G ; G.A. Penacino^H ; M.L. Pontes^I ; M.J. Porto^J ; J. Puente-Prieto^K ; R. Ramí ; rez Pé ; rez^L ; T. Ribeiro^M ; B. Rodrí ; guez Cardozo^N ; Y.M. Rodrí ; guez Lesmes^O ; A. Sala^P ; B. Santiago^Q ; V.G. Saragoni^R ; A. Serrano^S ; E.R. Streitenberger^T ; M.A. Torres Morales^U ; S.A. Vannelli Rey^V ; M. Velá ; zquez Miranda^W

关键词：GHEP-ISFG ; Intercomparison Exercise ; Forensic mixtures ; Autosomal STRs ; Y-chromosome ; mtDNA

刊名：Forensic Science International: Genetics

出版年：2016

9.Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families

作者：Dost Muhammad ; PhD^a ; Bushra Khan ; PhD^a ; Syed I. Raza ; PhD^a ; Farooq Ahmad ; MPhil^a ; Naseem A. Channa ; MSc^b ; Muhammad Ansar ; PhD^a ; Wasim Ahmad ; PhD^a ; Sulman Basit ; PhD^c ; ^{sbasit.phd@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：DSG4 gene ; Intragenic deletion mutation ; LAH ; Pakistan ; Recurrent mutation

刊名：Journal of Taibah University Medical Sciences

出版年：2016

10.Population genetic analysis of five northwest Punjabi endogamous groups using microsatellite markers

作者：Manpreet Kaur ; Ph.D.^a ; ^{manpreet024@gmail.com" class="auth_mail" title="E-mail the corresponding author} (Research Scientist) ; Badaruddoza ; M.Phil ; Ph.D.^b (Director)

关键词：AMOVA ; Analysis of molecular variance ; df ; degree of freedom ; DST ; average gene diversity between the subpopulations ; FCT ; the fraction of variation between the three groups ; FSC ; the fraction of genetic variation within groups between the sub-populations ; FST ; the fraction of total genetic variation between sub-populations ; GST ; the coefficient of gene differentiation ; Hexp ; Expected Heterozygosity ; Hobs ; Observed Heterozygosity ; HS ; average gene diversity within the subpopulation ; HT ; gene div

刊名：Meta Gene

出版年：2016

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