搜索页_+7p+duplication

常用资源

电子图书

期刊论文

学位会议

外文资源

Elsevier电子期刊(103)

在“Elsevier电子期刊”中，命中：103条，耗时：小于0.01 秒

在所有数据库中总计命中：186条

1.7p22.1 microduplication syndrome: Refinement of the critical region

作者：Luisa Ronzoni^a ; Francesca Sofia Grassi^a ; Lidia Pezzani^a ; Arianna Tucci^a ; Marco Baccarin^b ; Susanna Esposito^a ; Donatella Milani^a ; ^{donatella.milani@policlinico.mi.it}

关键词：7p22.1 microduplication ; Renal anomalies ; ACTB gene

刊名：European Journal of Medical Genetics

出版年：2017

2.Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly

作者：Chih-Ping Chen^a ; ^b ; ^c ; ^d ; ^e ; ^f ; ^{cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Liang-Kai Wang^a ; Schu-Rern Chern^b ; Peih-Shan Wu^g ; Kevin Ko^b ; Yen-Ni Chen^a ; Shin-Wen Chen^a ; Meng-Shan Lee^a ; Wayseen Wang^b ; ^h

关键词：cystic hygroma ; 5p deletion ; 7p duplication ; prenatal diagnosis ; ventriculomegaly

刊名：Taiwanese Journal of Obstetrics and Gynecology

出版年：2016

3.17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report

作者：Rohan K. Henry^a ; ^{rohan.henry@nationwidechildrens.org" class="auth_mail" title="E-mail the corresponding author} ; Caroline Astbury^b ; ^c ; Constantine A. Stratakis^d ; Scott E. Hickey^e

关键词：17p13.3 microduplications ; CRK gene ; Growth factors ; Central precocious puberty

刊名：European Journal of Medical Genetics

出版年：2016

4.Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

作者：Jeroen Breckpot^a ; ¹ ; Marieke Vercruyssen^b ; ¹ ; Eddy Weyts^c ; Sean Vandevoort^c ; Greet D'Haenens^c ; Griet Van Buggenhout^a ; Lore Leempoels^b ; Elise Brischoux-Boucher^d ; Lionel Van Maldergem^d ; Alessandra Renieri^e ; ^f ; Maria Antonietta Mencarelli^f ; Carla D'Angelo^g ; Veronica Mericq^h ; Mariette J. Hofferⁱ ; Maithé ; Tauber^j ; Catherine Molinas^j ; ^{molinas.c@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author} ; Claudia Castiglioni^k ; Nathalie Brison^a ; Joris R. Vermeesch^a ; Marina Danckaerts^b ; Pascal Sienaert^b ; Koenraad Devriendt^a ; Annick Vogels^a ; ^{annick.vogels@uzleuven.be" class="auth_mail" title="E-mail the corresponding author}

关键词：Catatonia ; Psychiatric disorder ; SHANK3 ; 14q11.2 duplication ; SUPT16H

刊名：European Journal of Medical Genetics

出版年：2016

5.Cytogenetic abnormalities and genomic copy number variations in EPO (7q22) and SEC-61(7p11) genes in primary myelodysplastic syndromes

作者：Purvi Mohanty^a ; Seema Korgaonkar^a ; Chandrakala Shanmukhaiah^b ; Kanjaksha Ghosh^a ; Babu Rao Vundinti^a ; ^{vbaburao@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CNV ; copy number variations ; QMPSF ; quantitative multiplex PCR assay of short fluorescent fragments ; IPSS ; International Prognostic Scoring System

刊名：Blood Cells, Molecules and Diseases

出版年：2016

6.Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification

关键词：ALL ; acute lymphoblastic leukemia ; AML ; acute myeloid leukemia ; BM ; bone marrow ; CE ; capillary electrophoresis ; CML ; chronic myeloid leukemia ; CNA ; copy number alteration ; DS ; dosage-specific ; FAB ; French-American-British ; FFPE ; formalin-fixed paraffin-embedded ; FLT3 ; fms-like tyrosine kinase 3 ; FLT3-ITD ; internal tandem duplication in FLT3 gene ; MLPA ; multiplex ligation-dependent probe amplification ; MRD ; minimal residual disease ; MS ; mutation-specific ; mut ; mutant ; NES ; nuclear export signal

刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

出版年：2016

7.Post-mortem cytogenomic investigations in patients with congenital malformations

作者：Alexandre Torchio Dias^a ; ^{alexandre-dias@usp.br" class="auth_mail" title="E-mail the corresponding author} ; ^{dias.torchio@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; É ; velin Aline Zanardo^a ; Roberta Lelis Dutra^a ; Flavia Balbo Piazzon^a ; Gil Monteiro Novo-Filho^a ; Marilia Moreira Montenegro^a ; Amom Mendes Nascimento^a ; Mariana Rocha^a ; ^b ; Fabricia Andreia Rosa Madia^a ; Thais Virgí ; nia Moura Machado Costa^a ; Cintia Milani^a ; Regina Schultz^c ; Fernanda Toledo Gonç ; alves^d ; Cintia Fridman^d ; Guilherme Lopes Yamamoto^e ; Dé ; bora Romeo Bertola^e ; Chong Ae Kim^e ; Leslie Domenici Kulikowski^a ; ^b

关键词：Congenital malformations ; Post-mortem cytogenomic investigation ; DNA copy number variations

刊名：Experimental and Molecular Pathology

出版年：2016

8.7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

作者：Rossella Caselli^a ; ^{r.caselli@auxologico.it" class="auth_mail" title="E-mail the corresponding author} ; Lucia Ballarati^a ; Aglaia Vignoli^b ; Angela Peron^b ; Maria Paola Recalcati^a ; Ilaria Catusi^a ; Lidia Larizza^a ; Daniela Giardino^a

关键词：7p22.1 ; Microduplication syndrome ; Language delay ; Array-CGH

刊名：European Journal of Medical Genetics

出版年：2015

9.Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter

作者：Chang-Hun Park ; Hee-Jin Kim ; Seung-Tae Lee ; Jeong Meen Seo ; Sun-Hee Kim

关键词：T17P ; trisomy of the short arm of chromosome 17 ; 17pter ; 17p terminal end ; SNP ; single nucleotide polymorphism ; SMS ; Smith&ndash ; Magenis syndrome ; PMP22 ; peripheral myelin protein 22 gene ; ISCN ; International System for Human Cytogenetic Nomenclature ; FISH ; fluorescence in situ hybridization ; RARA ; retinoic acid receptor ; alpha gene ; MLPA ; multiplex ligation-dependent probe amplification ; TP53 ; tumor protein p53 gene ; RPH3AL ; rabphilin 3A-like (without C2 domains) gene ; DOC2B ; double C2 beta gen

刊名：Gene

出版年：10 March, 2014

10.MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

作者：Jasper M Morrow ; FRACP^a ; Christopher D J Sinclair ; PhD^a ; ^b ; Arne Fischmann ; MD^b ; ^d ; Pedro M Machado ; MD^a ; Prof Mary M Reilly ; MD^a ; Prof Tarek A Yousry ; Dr Med Habil^a ; ^b ; ^c ; ^&dagger ; ; ^{t.yousry@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; John S Thornton ; PhD^a ; ^b ; ^c ; ^&dagger ; ; Prof Michael G Hanna ; MD^a ; ^&dagger ;

刊名：Lancet Neurology

出版年：2016

按检索点细分(103)

题名(11)

关键词(6)

文摘(98)

按出版年细分(103)

2027年及以后(4)

2017年(1)

2016年(7)

2015年(2)

2013年(6)

2012年(8)

2011年(3)

2010年(3)

2009年(2)

2008年(5)

2007年(2)

2006年(4)

2005年(3)

2004年(5)

2003年(3)

2002年(2)

2001年(3)

2000年(7)

2000年及以前(33)

地址：北京市海淀区学院路29号邮编：100083

电话：办公室：(+86 10)66554848；文献借阅、咨询服务、科技查新：66554700