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在“Elsevier电子期刊”中，命中：1,198条，耗时：0.0569748 秒

在所有数据库中总计命中：1,246条

1.Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

作者：André ; B.P. van Kuilenburg^a ; ^{a.b.vankuilenburg@amc.uva.nl} ; Judith Meijer^a ; Dirk Maurer^b ; Doreen Dobritzsch^b ; Rutger Meinsma^a ; Maartje Los^c ; Lia C. Knegt^a ; Lida Zoetekouw^a ; Rob L.H. Jansen^d ; Vincent Dezentjé ; ^e ; Lieke H. van Huis-Tanja^f ; Roel J.W. van Kampen^g ; Jens Michael Hertz^h ; Raoul C.M. Hennekam^a

关键词：Dihydropyrimidine dehydrogenase ; DPYD ; 5-Fluorouracil ; Capecitabine ; Pharmacogenetics ; Toxicity

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2017

2.Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis

作者：Fiorella S. Belforte^a ; ^c ; Cintia E. Citterio^b ; ^c ; Graciela Testa^d ; Marí ; a Cecilia Olcese^a ; ^c ; Gabriela Sobrero^d ; Mirta B. Miras^d ; Hé ; ctor M. Targovnik^b ; ^c ; Carina M. Rivolta^a ; ^c ; ^{cmrivolta@conicet.gov.ar" class="auth_mail" title="E-mail the corresponding author} ; ^{crivolta@ffyb.uba.ar" class="auth_mail" title="E-mail the corresponding author}

关键词：Congenital hypothyroidism ; DUOX2 gene ; Mutation ; Compound heterozygous mutations ; Cryptic splice site

刊名：Molecular and Cellular Endocrinology

出版年：2016

3.Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene

作者：Joana B. Infante^a ; ¹ ; Maria I. Alvelos^a ; ¹ ; Margarida Bastos^b ; Francisco Carrilho^b ; Manuel C. Lemos^a ; ^{mclemos@fcsaude.ubi.pt" class="auth_mail" title="E-mail the corresponding author}

关键词：AR ; androgen receptor ; bp ; base-pairs ; cDNA ; complementary DNA ; DNA ; deoxyribonucleic acid ; mRNA ; messenger RNA ; PCR ; polymerase chain reaction ; RNA ; ribonucleic acid ; RT-PCR ; reverse transcription PCR ; snRNA ; small nuclear RNA

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

4.Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S

作者：Kourtnee Hoitsema^a ; Dominick Amato^b ; Aneal Khan^c ; ^e ; Sandra Sirrs^d ; Francis Y.M. Choy^a ; ^{fchoy@uvic.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：bp ; base pairs ; EC ; enzyme commission number ; GD ; Gaucher disease ; GBA ; glucocerebrosidase gene ; GBA ; glucocerebrosidase enzyme protein ; Hb ; hemoglobin ; MRI ; magnetic resonance imaging ; OMIM ; Online Mendelian Inheritance in Man entry number ; PCR ; polymerase chain reaction ; RFLP ; restriction fragment length polymorphism ; RT-PCR ; reverse transcription-PCR

刊名：Meta Gene

出版年：2016

5.A case of mild CHARGE syndrome associated with a splice site mutation in CHD7

作者：Constance Wells^a ; Natalie Loundon^b ; Noë ; l Garabedian^b ; Sylvette Wiener-Vacher^c ; Marie-Dominique Cordier-Bouvier^d ; Gé ; raldine Goudeffroye^a ; Tania Attié ; -Bitach^a ; ^e ; Sandrine Marlin^f ; ^{sandrine.marlin@aphp.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：CHARGE ; CHD7 ; Sensorineural hearing impairment ; Semicircular canal malformation

刊名：European Journal of Medical Genetics

出版年：2016

6.21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations

作者：Ruifang Wang¹ ; Yongguo Yu¹ ; Jun Ye ; Lianshu Han ; Wenjuan Qiu ; Huiwen Zhang ; Lili Liang ; Zhuwen Gong ; Lili Wang ; Xuefan Gu ; ^{gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CAH ; congenital adrenal hyperplasia ; 21-OHD ; 21-hydroxylase deficiency ; CYP21A2 ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 2 ; MLPA ; multiplex ligation-dependent probe amplification ; SW ; salt-wasting ; SV ; simple virilizing ; NC ; nonclassical ; CYP21A1P ; cytochrome P450 ; family 21 ; subfamily A ; polypeptide 1 pseudogene ; HGMD ; Human Gene Mutation database ; 17-OHP ; 17-hydroxyprogesterone ; I2G ; the intron 2 splice site mutation ; ppv ; positive predictive value ; Del ; large gene deletions ; ACTH

刊名：Steroids

出版年：2016

7.Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

作者：Anabela S. Ramalho^a ; ¹ ; Luka A. Clarke^a ; Marisa Sousa^a ; Veró ; nica Felicio^a ; Celeste Barreto^b ; Carlos Lopes^b ; Margarida D. Amaral^a ; ^{mdamaral@fc.ul.pt" class="auth_mail" title="E-mail the corresponding author}

关键词：Cystic fibrosis ; CFTR ; Splicing mutation ; Alternative splicing ; In silico predictions

刊名：Journal of Cystic Fibrosis

出版年：2016

8.Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

作者：Alice Todeschini^a ; Francesca Gualandi^b ; Cecilia Trabanelli^b ; Annarita Armaroli^b ; Anna Ravani^b ; Marina Fanin^c ; Silvia Rota^a ; Luca Bello^c ; Alessandra Ferlini^b ; ^d ; Elena Pegoraro^c ; Alessandro Padovani^a ; Massimiliano Filosto^a ; ^{massimiliano.filosto@unibs.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Dystrophinopathy ; Dystrophin ; Duchenne muscular dystrophy ; Becker muscular dystrophy ; Splicing mutation ; Dystrophin amount

刊名：Neuromuscular Disorders

出版年：2016

9.The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

作者：Bruno Palhais¹ ; Maja Dembic¹ ; Rugivan Sabaratnam ; Kira S. Nielsen ; Thomas Koed Doktor ; Gitte Hoffmann Bruun ; Brage Storstein Andresen ; ^{bragea@bmb.sdu.dk" class="auth_mail" title="E-mail the corresponding author}

关键词：α-Gal A ; α-galactosidase A enzyme ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; FGB ; fibrinogen β gene ; GLA ; α-galactosidase A gene ; hnRNP A1 ; A2/B1 ; F ; and H ; heterogeneous ribonucleoprotein A1 ; A2/B1 ; F ; and H ; NMD ; nonsense-mediated decay ; 3&prime ; and 5&prime ; ss ; 3&prime ; and 5&prime ; splice site ; SRE ; splicing regulatory element ; SSO ; splice-switching oligonucleotide

刊名：Molecular Genetics and Metabolism

出版年：2016

10.Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

作者：Fengguo Zhang^a ; ^b ; ¹ ; Xiaohui Bai^a ; ^b ; ¹ ; Yun Xiao^a ; ^b ; Xue Zhang^a ; ^b ; Guodong Zhang^a ; ^b ; Jianfeng Li^a ; ^b ; Lei Xu^a ; ^b ; ^{sdphxl@126.com" class="auth_mail" title="E-mail the corresponding author} ; Haibo Wang^a ; ^b ; ^{wang.hb7585@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Novel mutation ; SLC26A4 gene ; EVAS ; Nonsense ; Chinese family ; Pathogenicity

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2016

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