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在“Elsevier电子期刊”中，命中：195条，耗时：小于0.01 秒

在所有数据库中总计命中：462条

1.Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening

作者：Richard T. Scott Jr. ; M.D. ; ^{rscott@rmanj.com}

关键词：Chromosomal duplications ; chromosomal deletions ; subchromosomal defects ; preimplantation genetic screening ; embryonic mosaicism

刊名：Fertility and Sterility

出版年：2017

2.Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management

作者：Carmen C. Tong^a ; Kelly A. Duffy^b ; David I. Chu^d ; Dana A. Weiss^d ; Arun K. Srinivasan^d ; Douglas A. Canning^d ; Jennifer M. Kalish^b ; ^c ; ^{kalishj@email.chop.edu}

刊名：Urology

出版年：2017

3.Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes

作者：Keith W. Dunaway¹ ; ² ; ³ ; ⁴ ; ⁷ ; M. Saharul Islam¹ ; ² ; ³ ; ⁴ ; ⁷ ; Rochelle L. Coulson¹ ; ² ; ³ ; ⁴ ; S. Jesse Lopez¹ ; ² ; ³ ; ⁴ ; Annie Vogel Ciernia¹ ; ² ; ³ ; ⁴ ; Roy G. Chu¹ ; ² ; ³ ; ⁴ ; Dag H. Yasui¹ ; ² ; ³ ; ⁴ ; Isaac N. Pessah⁴ ; ⁵ ; Paul Lott² ; Charles Mordaunt¹ ; ² ; ³ ; ⁴ ; Makiko Meguro-Horike⁶ ; Shin-ichi Horike⁶ ; Ian Korf² ; Janine M. LaSalle¹ ; ² ; ³ ; ⁴ ; ⁸ ; ^{jmlasalle@ucdavis.edu}

关键词：autism ; copy number variants ; persistent organic pollutants ; epigenetic ; DNA methylation ; chromatin ; gene x environment interaction

刊名：Cell Reports

出版年：2016

4.Genome-wide analysis of WRKY family of transcription factors in common bean, Phaseolus vulgaris: Chromosomal localization, structure, evolution and expression divergence

作者：Ning Wang^a ; ^b ; En-Hua Xia^a ; ^b ; Li-Zhi Gao^a ; ^{Lgao@mail.kib.ac.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：TFs ; transcription factors ; RNA-seq ; RNA sequencing ; HMM ; hidden Markov model ; MW ; molecular weight ; pI ; isoelectric point ; aa ; amino acid(s) ; AtWRKY ; WRKY transcription factors in Arabidopsis ; PvWRKYs ; WRKY transcription factors in Phaseolus vulgaris ; P. vulgaris ; Phaseolus vulgaris ; NJ ; neighbor-joining ; DAP ; day after planting ; FPKM ; expected number of fragments per kilobase of transcript sequence per millions base pairs sequenced

刊名：Plant Gene

出版年：2016

5.Principles of genetic variations and molecular diseases: applications in hemophilia A

作者：N. Lannoy^a ; ^b ; ^{nlannoy@dmsnet.be" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; C. Hermans^aAuthor Vitae

关键词：Hemophilia A ; Gene targeting ; F8 gene mutations ; Mutation analysis ; CNV ; Inversion ; Molecular Biology methods

刊名：Critical Reviews in Oncology and Hematology

出版年：2016

6.The genetics of nonsyndromic bilateral Duane retraction syndrome

作者：Khaled K. Abu-Amero ; PhD^a ; ^b ; ^{abuamero@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Arif O. Khan ; MD^c ; Darren T. Oystreck ; MMedSci^d ; Altaf A. Kondkar ; PhD^a ; Thomas M. Bosley ; MD^a

刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus

出版年：2016

7.Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

作者：Anke Van Dijck^a ; ^b ; ^{Anke.Vandijck@uantwerpen.be" class="auth_mail" title="E-mail the corresponding author} ; Ilse M. van der Werf^a ; Edwin Reyniers^a ; ^b ; Stefaan Scheers^a ; ^b ; Meron Azage^c ; Kiana Siefkas^d ; Nathalie Van der Aa^a ; Amy Lacroix^e ; Jill Rosenfeld^f ; Bob Argiropoulos^g ; ^h ; Kellie Davis^g ; A.Micheil Innes^g ; ^h ; Heather C. Mefford^d ; ^e ; Geert Mortier^a ; ^b ; Marije Meuwissen^b ; R.Frank Kooy^a

关键词：1q21.1 triplication ; Recurrent rearrangements ; Genomic disorder ; Macrocephaly ; Overweight

刊名：European Journal of Medical Genetics

出版年：2015

8.Autosomal dominant lateral temporal epilepsy (ADLTE): Absence of chromosomal rearrangements in LGI1 gene

作者：Ida Manna^a ; ¹ ; Laura Mumoli^b ; ¹ ; Angelo Labate^b ; ^c ; Luigi Citrigno^a ; Edoardo Ferlazzo^b ; ^d ; Umberto Aguglia^b ; ^d ; Aldo Quattrone^b ; ^c ; Antonio Gambardella^a ; ^b ; ^{a.gambardella@unicz.it" class="auth_mail}

关键词：Autosomal dominant lateral temporal epilepsy ; LGI1 gene ; Mutation analysis ; Gene rearrangement ; Multiplex ligation-dependent probe amplification

刊名：Epilepsy Research

出版年：March, 2014

9.Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

作者：Agatino Battaglia ; Viola Doccini ; Laura Bernardini ; Antonio Novelli ; Sara Loddo ; Anna Capalbo ; Tiziana Filippi ; John C. Carey

关键词：Chromosomal microarray (CMA) ; Array-CGH ; Developmental delay ; Intellectual disability ; Neurodevelopmental disorders ; Autism spectrum disorders ; Dysmorphic features

刊名：European Journal of Paediatric Neurology

出版年：November, 2013

10.Two Y chromosomes with duplication of the distal long arm including the entire AZFc region

作者：Hui-Kuo Hsu ; Mei-Tsz Su ; Ming Chen ; Pauline Yen ; Pao-Lin Kuo

关键词：AZF ; azoospermia factor ; aCGH ; array-based comparative genomic hybridization ; IVF&ndash ; ET ; in vitro fertilization&ndash ; embryo transfer ; PAR2 ; pseudoautosomal region 2

刊名：Gene

出版年：25 February, 2014

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