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Wiley电子期刊(23)	NATURE电子期刊(1)	ACS电子期刊(1)
SpringerLink电子期刊(431)	Elsevier电子期刊(739)

在“Elsevier电子期刊”中，命中：739条，耗时：0.0659724 秒

在所有数据库中总计命中：1,195条

1.Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

作者：Patrick R. Sosnay ; MD¹ ; Danieli B. Salinas ; MD² ; Terry B. White ; PhD³ ; Clement L. Ren ; MD⁴ ; Philip M. Farrell ; MD ; PhD⁵ ; Karen S. Raraigh ; MGC⁶ ; Emmanuelle Girodon ; MD⁷ ; Carlo Castellani ; MD⁸

关键词：CFTR genetic testing ; CFTR mutations ; CFTR-related disorder ; cystic fibrosis ; genotype ; genotype-phenotype correlation mutation ; MVCC ; penetrance ; variant

刊名：The Journal of Pediatrics

出版年：2017

2.Genotype-phenotype correlations of cysteine replacement in CADASIL

作者：Takashi Matsushima^a ; Silvio Conedera^a ; Ryota Tanaka^a ; Yuanzhe Li^a ; Hiroyo Yoshino^b ; Manabu Funayama^a ; ^b ; Aya Ikeda^a ; Yuka Hosaka^a ; Ayame Okuzumi^a ; Yoshiaki Shimada^a ; Kazuo Yamashiro^a ; Yumiko Motoi^a ; Kenya Nishioka^a ; Nobutaka Hattori^a ; ^b ; ^{nhattori@juntendo.ac.jp}

关键词：CADASIL ; NOTCH3 ; Hereditary leukoaraiosis ; Genetics

刊名：Neurobiology of Aging

出版年：2017

3.Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy

作者：Martin G. Dalin^a ; ¹ ; Pä ; r G. Engströ ; m^b ; ¹ ; Emil G. Ivarsson^a ; ¹ ; Per Unneberg^b ; ¹ ; Sara Light^b ; ¹ ; Maria Schaufelberger^a ; ¹ ; Thomas Gilljam^a ; ¹ ; Bert Andersson^c ; ¹ ; ² ; ^{bert.andersson@gu.se} ; Martin O. Bergo^a ; ¹ ; ²

关键词：Dilated cardiomyopathy ; Genetics ; Mutations ; Genotype&ndash ; phenotype correlations ; Next-generation sequencing

刊名：International Journal of Cardiology

出版年：2017

4.Stargardt disease-associated mutation spectrum of a Russian Federation cohort

作者：Inna V. Zolnikova^a ; Vladimir V. Strelnikov^b ; Natalia A. Skvortsova^c ; Alexander S. Tanas^b ; Debmalya Barh^d ; ^e ; ^{dr.barh@gmail.com} ; Elena V. Rogatina^a ; Irina V. Egorova^a ; Darja V. Levina^a ; Olga N. Demenkova^a ; Egor G. Prikaziuk^f ; Marianna E. Ivanova^g

关键词：Gene mutation ; Genotype-phenotype correlation ; Next-generation sequencing ; Retinopathy ; Retinal dystrophies ; Stargardt disease

刊名：European Journal of Medical Genetics

出版年：2017

5.Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

作者：Angè ; le Tingaud-Sequeira^a ; Demetrio Raldú ; a^b ; Julie Lavie^a ; Guilaine Mathieu^a ; Magali Bordier^a ; ^c ; Anja Knoll-Gellida^a ; Pierre Rambeau^a ; Isabelle Coupry^a ; Michè ; le André ; ^a ; Eva Malm^d ; Claes Mö ; ller^e ; Sten Andreasson^d ; Nanna D. Rendtorff^f ; Lisbeth Tranebjæ ; rg^f ; Michel Koenig^g ; Didier Lacombe^a ; ^c ; Cyril Goizet^a ; ^c ; Patrick J. Babin^a ; ^{p.babin@gpp.u-bordeaux1.fr}

关键词：2-AG ; 2-arachidonoylglycerol ; Ac-Tuba ; acetylated α-tubulin ; ARCA ; autosomal recessive cerebellar ataxias ; arRP ; autosomal recessive retinitis pigmentosa ; ABHD6 ; abhydrolase domain containing protein 6 ; ABHD12 ; abhydrolase domain containing protein 12 gene ; CNS ; central nervous system ; dpf ; days post-fertilization ; hpf ; hours post-fertilization ; LPS ; lysophosphatidylserine ; mAb ; monoclonal antibody ; MAGL ; monoacylglycerol lipase ; MBP ; myelin basic protein ; MO ; morpholino oligonucleotide ; MPZ ; my

刊名：Neurobiology of Disease

出版年：2017

6.Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia

作者：Katja K. Dumic^a ; ^{katja.dumic@gmail.com} ; Zorana Grubic^b ; Tony Yuen^c ; Robert C. Wilson^d ; Vesna Kusec^e ; Ingeborg Barisic^f ; Katarina Stingl^b ; Ivona Sansovic^f ; Veselin Skrabic^g ; Miroslav Dumic^h ; Maria I. New^c

关键词：21-Hydroxylase deficiency ; CYP21A2 gene ; Genotype ; Phenotype

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

7.Genotype-Phenotype Correlations of the Central Core Disease Mutations in the C-Terminal Region of the RyR1 Channel

刊名：Biophysical Journal

出版年：2017

8.Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis

作者：Alessandro Iodice^a ; ^{alle.iodice@gmail.com} ; Carlotta Spagnoli^a ; Grazia Gabriella Salerno^a ; Daniele Frattini^a ; Gianna Bertani^a ; Patrizia Bergonzini^c ; Francesco Pisani^b ; Carlo Fusco^a

关键词：Infantile neuroaxonal dystrophy ; PLAN ; PLA2G6 ; Atypical NAD ; Neurodegeneration with brain iron accumulation

刊名：Brain and Development

出版年：2017

9.21-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

10.Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis

作者：Gewalin Aungaroon ; MD^a ; ^{Gewalin.aungaroon@cchmc.org" class="auth_mail" title="E-mail the corresponding author} ; Barbara Hallinan ; MD ; PhD^a ; Puneet Jain ; MD ; DM^b ; Paul S. Horn ; PhD^a ; ^c ; Christine Spaeth ; MS ; CGC^a ; ^d ; Ravindra Arya ; MD ; DM^a

关键词：neuronal ceroid lipofuscinoses ; neurodegenerative ; genotype ; phenotype ; histology

刊名：Pediatric Neurology

出版年：2016

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