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Elsevier电子期刊(78)

在“Elsevier电子期刊”中，命中：78条，耗时：小于0.01 秒

在所有数据库中总计命中：137条

1.Translocations, inversions and other chromosome rearrangements

作者：Scott J. Morin ; M.D.^a ; ^b ; Jennifer Eccles ; M.S. ; L.C.G.C.^c ; Amanda Iturriaga ; M.S. ; L.C.G.C.^c ; Rebekah S. Zimmerman ; Ph.D. ; F.A.C.M.G.^c ; ^{rzimmerman@feclabs.org}

关键词：Reciprocal translocation ; Robertsonian translocation ; preimplantation genetic diagnosis ; inversions ; marker chromosomes

刊名：Fertility and Sterility

出版年：2017

2.Autism spectrum disorders: Integration of the genome, transcriptome and the environment

作者：N. Thushara Vijayakumar ; ^{thusharachennat@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; M.V. Judy

关键词：ACC ; agenesis of the corpus callosum ; aCGH ; array comparative genomic hybridization ; ADHD ; Attention deficit hyperactivity disorder ; ASD ; autism spectrum disorders ; BCAA ; branched-chain amino acids ; BCKD ; branched-chain α-ketoacid dehydrogenase complex ; BCR ; balanced chromosomal rearrangements ; CMA ; chromosomal microarray analysis ; CNVs ; copy number variations ; DMR ; differentially methylated regions ; DNAm ; DNA methylation ; GI ; gastrointestinal ; HLA ; human leukocyte antigen ; ID ; intellectual disa

刊名：Journal of the Neurological Sciences

出版年：2016

3.Karyotype is not dead (yet)!

关键词：Karyotype ; Balanced translocation ; Gene disrupted ; Developmental abnormalities ; Genetic counselling

刊名：European Journal of Medical Genetics

出版年：2016

4.43 - What's Next in Cytogenetics: Molecular Characterization of De Novo Apparently Balanced Chromosomal Rearrangements to Assess Pathogenicity by Whole Genome Mate Pair Sequencing

作者：Cherisse A. Marcou^a ; Geoffrey Halling^b ; Sarah H. Johnson^b ; Stephanie Smoley^a ; Kathryn Pearce^a ; George Vasmatzis^b ; ^c ; Erik C. Thorland^a ; Umut Aypar^a ; Nicole L. Hoppman^a

刊名：Cancer Genetics

出版年：2016

5.A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement

作者：Zafer Cetin^a ; Sezin Yakut^a ; Ozden Altiok Clark^b ; Ercan Mihci^c ; Sibel Berker^a ; ^{sibelberker@akdeniz.edu.tr} ; Guven Luleci^a

关键词：CCR ; Complex chromosomal rearrangements ; MRI ; Magnetic resonance ?maging ; FISH ; Fluorescence in situ hybridization ; WCP ; Whole chromosome painting ; array-CGH ; Array-comparative genomic hybridization ; UCSC ; University of California Santa Cruz ; HTR1A ; 5-Hy

刊名：Gene

出版年：2013

6.A patient with five chromosomal rearrangements and a 2q31.1 microdeletion

作者：Ting Wang^a ; ¹ ; Jun Mao^a ; ¹ ; Min-Juan Liu^a ; Kwong Wai Choy^b ; ^c ; Hai-Bo Li^a ; David S. Cram^d ; Hong Li^a ; Ying Chen^a ; ^{cyandzh@sohu.com" class="auth_mail}

关键词：2q31.1 microdeletion syndrome ; Translocation ; Complex chromosome rearrangement ; HOXD13 ; CHN1

刊名：Clinica Chimica Acta

出版年：20 March, 2014

7.Evidence for meiotic drive as an explanation for karyotype changes in fishes

作者：Wagner Franco Molina^a ; Pablo A. Martinez^a ; Luiz Antô ; nio C. Bertollo^b ; Claudio Juan Bidau^c ; ^{bidau47@yahoo.com" class="auth_mail} ; ^{bidau50@gmail.com" class="auth_mail}

关键词：Bibrachial chromosomes ; Chromosomal evolution ; Chromosomal rearrangements ; Karyotypic orthoselection ; Monobrachial chromosomes ; Ray-finned fishes

刊名：Marine Genomics

出版年：June 2014

8.Cytogenetic analysis of somatic and germinal cells from 38,XX/38,XY phenotypically normal boars

作者：Harmonie Barasc ; St茅phane Ferchaud ; Nicolas Mary ; Marie Ad茅la茂de Cucchi ; Amalia Naranjo Lucena ; Isabelle Raymond Letron ; Anne Calgaro ; Nathalie Bonnet ; Anne Marie Dudez ; Martine Yerle ; Alain Ducos ; Alain Pinton

关键词：Pig ; Chromosomes ; Chimerism ; Sperm

刊名：Theriogenology

出版年：15 January, 2014

9.Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion

作者：Marina Blanchard^a ; Christè ; le Dubourg^b ; ^c ; Laurent Pasquier^d ; Sylvie Odent^c ; ^d ; Josette Lucas^a ; Chloé ; Qué ; lin^d ; ^e ; Erika Launay^a ; Linda Akloul^d ; Catherine Henry^a ; Marc-Antoine Belaud-Rotureau^a ; ^c ; Fré ; dé ; ric Dugay^a ; ^c ; ¹ ; Sylvie Jaillard^a ; ¹

关键词：Chromosome 9 ; Interstitial deletion ; Interstitial duplication ; Array-CGH ; Intrachromosomal paracentric direct insertion

刊名：European Journal of Medical Genetics

出版年：April 2014

10.An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family

作者：Byung-Joo Min ; Jung Min Ko ; Myung-Eui Seo ; Jin-Sun Choi ; Sun Kyung Oh ; Jane Jeon ; EunHyun Kim ; Jennifer E. Moon ; In Ho Choi ; Charles Lee ; Ok-Hwa Kim ; Tae-Joon Cho ; Woong-Yang Park

关键词：Interstitial chromosomal insertion ; Langer&ndash ; Giedion syndrome (LGS) ; Array comparative genome hybridization (aCGH) ; Fluorescent in situ hybridization (FISH)

刊名：European Journal of Medical Genetics

出版年：2013

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