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在“Elsevier电子期刊”中，命中：52条，耗时：小于0.01 秒

在所有数据库中总计命中：1,321条

1.Un évènement génétique complexe très rare à propos du gène CDC73/HRPT2 en illustration de la médecine personnalisée

作者：L. Coppin^a ; ^{lucie.coppin@chru-lille.fr" class="auth_mail" title="E-mail the corresponding author} (Dr) ; C. Grutzmacher^a ; M. Cré ; pin^a (Dr) ; M. Le Bras^b (Dr) ; A. Murat^b (Dr) ; C. Le Caignec^b (Dr) ; C. Thuillier^a ; C. Cardot-Bauters^a (Dr) ; P. Pigny^a (Pr) ; N. Porchet^a (Pr) ; M.F. Odou^a (Dr)

刊名：Annales d'Endocrinologie

出版年：2016

2.A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

作者：Joon Seol Bae^a ; ¹ ; InSong Koh^b ; ¹ ; Hyun Sub Cheong^c ; Jeong-Meen Seo^d ; Dae-Yeon Kim^e ; Jung-Tak Oh^f ; Hyun-Young Kim^g ; Kyuwhan Jung^h ; Jae Hoon Sulⁱ ; ^j ; Woong-Yang Park^a ; Jeong-Hyun Kim^k ; ^{soykm@sogang.ac.kr" class="auth_mail" title="E-mail the corresponding author} ; Hyoung Doo Shin^k ; ^l ; ^{hdshin@sogang.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：HSCR ; Hirschsprung disease ; CNV ; copy number variation ; LOH ; loss of heterozygosity ; qPCR ; quantitative polymerase chain reaction ; S-HSCR ; short-segment Hirschsprung disease ; L-HSCR ; long-segment Hirschsprung disease ; TCA ; total colonic aganglionosis ; SNP ; single nucleotide polymorphism ; PCA ; principal component analysis ; GWAS ; genome-wide association study ; LRR ; log R ratio ; BAF ; B allele frequency ; FDR ; False Discovery Rate ; DGV ; Database of Genomic Variants ; CNVR ; CNV region ; CGH ; comparative

刊名：Translational Research

出版年：2016

3.Effectiveness of the multidisciplinary Risk Assessment and Management Program for Patients with Diabetes Mellitus (RAMP-DM) for diabetic microvascular complications: A population-based cohort study

作者：F. Jiao^a ; ^{francesj@connect.hku.hk} ; C.S.C. Fung^a ; ^cfsc@hku.hk ; Y.F. Wan^a ; ^yfwan@hku.hk ; S.M. McGhee^b ; ^{sarahmcghee7@gmail.com} ; C.K.H. Wong^a ; ^{carlosho@hku.hk} ; D. Dai^c ; ^{ddai@ha.org.hk} ; R. Kwok^c ; ^{kwoklp@ha.org.hk} ; C.L.K. Lam^a ; ^{clklam@hku.hk}

关键词：Diabetes mellitus ; Microvascular complications ; Multidisciplinary ; Risk stratification

刊名：Diabetes & Metabolism

出版年：2016

4.Confidence limits for genome DNA copy number variations in HR-CGH array measurements

作者：Jorge Muñ ; oz-Minjares ; Yuriy S. Shmaliy ; ^{shmaliy@ugto.mx" class="auth_mail} ; ^{shmaliy@ieee.org" class="auth_mail} ; Jesú ; s Cabal-Aragón

关键词：Genome copy number variations ; Jitter distribution ; Confidence interval ; HR-CGH microarray

刊名：Biomedical Signal Processing and Control

出版年：March, 2014

5.Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome

作者：Maria E. Bernabé ; u-Herrero^a ; ^d ; Miguel Jimé ; nez-Alcá ; zar^a ; ¹ ; Jaouad Anter^c ; ^d ; Sheila Pinto^c ; ^d ; Daniel Sá ; nchez Chinchilla^c ; ^d ; Sofí ; a Garrido^b ; ^d ; Margarita Ló ; pez-Trascasa^b ; ^d ; Santiago Rodrí ; guez de Có ; rdoba^c ; ^d ; Pilar Sá ; nchez-Corral^a ; ^d ; ^{pilar.sanchezcorral@salud.madrid.org" class="auth_mail" title="E-mail the corresponding author}

关键词：aHUS ; atypical hemolytic uremic syndrome ; AMD ; age-related macular degeneration ; ANOVA ; analysis of variance ; C3 ; complement component 3 ; C3 ; C3 gene ; C3G ; C3-glomerulopathy ; C4 ; complement component 4 ; C4 ; C4 gene ; CGH ; comparative genomic hybridization ; CFH ; complement factor H gene ; CFI ; complement factor I gene ; CFHR1 ; complement factor H-related 1 gene ; CFHR3 ; complement factor H-related 3 gene ; CI ; confidence interval ; DGKE ; diacylglycerolkinase epsilon gene ; ESRD ; end-stage renal disease

刊名：Molecular Immunology

出版年：2015

6.Identification of the receptors for somatostatin (SST) and cortistatin (CST) in chickens and investigation of the roles of cSST28, cSST14, and cCST14 in inhibiting cGHRH_1-27NH2-induced growth hormone secretion in cultured chicken pituitary cells

作者：Fengyan Meng ; Guian Huang ; Shunyu Gao ; Juan Li ; Zhenxin Yan ; Yajun Wang ; ^{cdwyjhk@gmail.com" class="auth_mail}

关键词：c ; chicken ; h ; human ; SST ; somatostatin peptide ; CST ; cortistatin peptide ; SSTR ; somatostatin receptor ; GH ; growth hormone ; GHRH ; growth hormone-releasing hormone ; GHRHR1 ; GHRH type I receptor ; GHRHR2 ; GHRH type II receptor ; GHRH-LP ; GHRH-like peptide ; CHO ; Chinese hamster ovary ; SS1 ; somatostatin gene ; SS2 ; cortistatin/somatostatin 2 gene ; RT-PCR ; reverse transcription and polymerase chain reaction ; CNS ; central nervous system ; AC ; adenylate cyclase

刊名：Molecular and Cellular Endocrinology

出版年：25 March, 2014

7.Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

作者：Andrea Klunder Petersen^a ; Ausaf Ahmad^b ; Mustafa Shafiq^b ; Brigette Brown-Kipphut^b ; Chin-To Fong^a ; M. Anwar Iqbal^b ; ^{Anwar_Iqbal@urmc.rochester.edu}

关键词：1q43 deletion ; Acetylcholine receptor muscarinic 3 ; CHRM3 ; Autistic disorder ; M3-muscarinic receptor ; Microarray CGH

刊名：European Journal of Medical Genetics

出版年：2013

8.Chromosomal imbalances in successive moments of human bladder urothelial carcinoma

作者：Merielen Garcia Nascimento e Pontes ; Sara Martorelli da Silveira ; Jos¨¦ Carlos de Souza Trindade Filho ; Silvia Regina Rogatto ; Jo?o Lauro Viana de Camargo

关键词：Urinary bladder cancer ; HR-CGH ; FISH ; p53

刊名：Urologic Oncology: Seminars and Original Investigations

出版年：2013

9.Growth hormone (GH) and GH-releasing hormone (GHRH): Co-localization and action in the chicken testis

作者：Carlos G. Martí ; nez-Moreno^a ; ^c ; Luz M. Ló ; pez-Marí ; n^b ; Martha Carranza^a ; Daniel Giterman^c ; Steve Harvey^c ; Carlos Ará ; mburo^a ; Maricela Luna^a ; ^{lunam@unam.mx" class="auth_mail}

关键词：Chicken growth hormone (cGH) ; Growth hormone releasing hormone (GHRH) ; Testes ; Proliferation ; Secretion ; GH isoforms

刊名：General and Comparative Endocrinology

出版年：1 April, 2014

10.An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects

作者：Anupam Rao^a ; ^b ; Sheridan O'Donnell^b ; Nicole Bain^c ; Cliff Meldrum^c ; Damon Shorter^d ; Himanshu Goel^b ; ^a ; ^{himanshu.goel@hnehealth.nsw.gov.au" class="auth_mail}

关键词：Chromosome 1p31.3 ; Microdeletion ; NFIA gene ; Corpus callosum agenesis ; Craniofacial defects

刊名：European Journal of Medical Genetics

出版年：February, 2014

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