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中国地质文献-英文(4)	SpringerLink电子期刊(11334)	GSW全文库(2)
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在“Elsevier电子期刊”中，命中：22,583条，耗时：0.1469319 秒

在所有数据库中总计命中：37,295条

1.Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

作者：Hong-han Wang^a ; Yong Feng^b ; ^c ; ^d ; Hai-bo Li^e ; Hong Wu^b ; Ling-yun Mei^b ; Xing-wei Wang^b ; Lu Jiang^b ; Chu-feng He^b ; ^{hechufeng2013@163.com}

关键词：Bartter syndrome ; Sensorineural deafness ; BSND ; GJB2 ; Digenic mutations

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2017

2.Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII

作者：Yanru Huang^a ; Libin Mei^a ; Weigang Lv^b ; Haoxian Li^b ; Rui Zhang^a ; Qian Pan^a ; ^b ; Hu Tan^a ; Jing Guo^a ; Xiaomei Luo^a ; Chen Chen^a ; Desheng Liang^a ; ^b ; ^{liangdesheng@sklmg.edu.cn} ; Lingqian Wu^a ; ^b ; ^{wulingqian@sklmg.edu.cn}

关键词：Osteogenesis imperfecta type VIII ; P3H1 ; Compound heterozygous mutations ; Targeted exome sequencing

刊名：Clinica Chimica Acta

出版年：2017

3.Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

作者：Francesco Calì ; ^a ; ^{cali@oasi.en.it} ; Valeria Chiavetta^a ; Giuseppa Ruggeri^a ; Maria Piccione^b ; Angelo Selicorni^c ; ^d ; Daniela Palazzo^b ; Maria Bonsignore^e ; Anna Cereda^f ; Maurizio Elia^g ; Pinella Failla^g ; Maria Grazia Figura^g ; Agata Fiumara^h ; Silvia Maitz^c ; Giuseppa Maria Luana Mandarà ; ⁱ ; Teresa Mattina^h ; Alda Ragalmuto^a ; Corrado Romano^g ; Martino Ruggieri^h ; Roberto Salluzzo^a ; Antonino Saporoso^e ; Carmelo Schepis^g ; Giovanni Sorge^h ; Maria Spanò ; ^e ; Gaetano Tortorella^e ; Valentino Romano^j

关键词：Neurofibromatosis type 1 ; Legius's syndrome ; Next generation sequencing ; Mosaicism

刊名：European Journal of Medical Genetics

出版年：2017

4.Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family

作者：Hussein Algahtani^a ; ^{halgahtani@hotmail.com} ; Yousef Marzouk^b ; Raghad Algahtani^b ; Sali Salman^c ; Bader Shirah^d

关键词：Autosomal Recessive Cerebellar Ataxia type 1 ; Genetic mutation ; Multiple sclerosis ; White matter disease ; SYNE1

刊名：Journal of the Neurological Sciences

出版年：2017

5.Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

作者：Bochra Ben Rhouma^a ; ^{bochra.benrhouma@gmail.com} ; Fakhri Kallabi^a ; Nadia Mahfoudh^b ; Afif Ben Mahmoud^a ; Roger T. Engeli^c ; Hassen Kamoun^d ; Leila Keskes^a ; Alex Odermatt^c ; ^{alex.odermatt@unibas.ch} ; Neila Belguith^a ; ^d

关键词：46 ; XY disorders of sex development ; 17beta-hydroxysteroid dehydrogenase ; Mutation ; HSD17B3 ; Founder effect ; Male sexual development

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

6.Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1

作者：Elisabetta De Filippo¹ ; Anke C. Schiedel¹ ; ³ ; ^{schiedel@uni-bonn.de} ; Prashiela Manga² ; ³ ; ^{Prashiela.Manga@nyumc.org}

关键词：COS7s ; COS7 cells ; ECFP ; enhanced cyan fluorescent protein ; ER ; endoplasmic reticulum ; EYFP ; enhanced yellow fluorescent protein ; FRET ; fluorescence resonance energy transfer ; GPCR ; G protein-coupled receptor ; mtGPR143 ; GPR143 trafficking mutant ; OA1 ; ocular albinism type 1 ; TYR ; tyrosinase ; wt ; wild-type

刊名：Journal of Investigative Dermatology

出版年：2017

7.Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

作者：Ekram M. Fateen^a ; ^{efateen@yahoo.com} (Professor) ; Hanan Abd El Mawgoud^b ; ^{hananmoawad@gmail.com} (Assistant Professor) ; Noura R. Eissa^c ; ^{nr.eissa@yahoo.com} (Assistant Reseacher) ; Mona M. Ibrahim^a ; ^{monamahmoud60@yahoo.com} (Assistant Professor) ; Mona S. Aglan^d ; ^{drmona_aglan@yahoo.com} (Professor) ; Mona L. Essawi^c ; ^{mlessawi@yahoo.com} (Professor)

关键词：MPS IVA ; Mucopolysaccharidosis type 4 &ndashA ; GALNS ; N-acetylgalactosamine-6-sulfatase ; GAGs ; Glycosaminoglycans ; NRC ; National Research Centre ; MPSs ; Mucopolysaccharidoses ; GLB1 ; β-Galactosidase ; KS ; Keratan Sulfate ; C6S ; Chondroitin-6-Sulfate ; kDa ; Kilo Dalton ; HGMD ; Human Gene Mutation Database ; ERT ; Enzyme Replacement Therapy ; LMSDC ; Limb Malformation and Skeletal Deformities Clinic ; RFLP ; Restriction Fragment Length Polymorphism ; PCR ; Polymerase Chain Reaction ; mRNA ; messenger Ribonucleic

刊名：Gene

出版年：2017

8.(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B

作者：Sophie Front^a ; Anna Biela-Banaś^a ; Patricie Burda^b ; Diana Ballhausen^c ; Katsumi Higaki^d ; Anna Caciotti^e ; Amelia Morrone^e ; ^f ; Julie Charollais-Thoenig^g ; Estelle Gallienne^a ; Sté ; phane Demotz^g ; Olivier R. Martin^a ; ^{olivier.martin@univ-orleans.fr}

关键词：Galactosidase inhibitors ; GM1-gangliosidosis ; Morquio disease type B ; Iminosugars ; Pharmacological chaperones

刊名：European Journal of Medicinal Chemistry

出版年：2017

9.Genotype-matched treatment for patients with advanced type I epithelial ovarian cancer (EOC)

作者：A. Spreafico^a ; A.M. Oza^a ; B.A. Clarke^b ; H.J. Mackay^a ; P. Shaw^b ; M. Butler^a ; N.C. Dhani^a ; S. Lheureux^a ; M.K. Wilson^a ; S. Welch^c ; T. Zhang^b ; C. Yu^a ; T. Stockley^a ; L.L. Siu^a ; S. Kamel-Reid^b ; P.L. Bedard^a ; ^{philippe.bedard@uhn.ca}

关键词：Type I epithelial ovarian cancer ; MEK inhibitor ; Molecular profiling

刊名：Gynecologic Oncology

出版年：2017

10.Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

作者：Nurgun Kandemir^a ; ^{nurgun.kandemir@gmail.com} ; ^{nkandemi@hacettepe.edu.tr} ; Didem Yucel Yilmaz^b ; E.Nazli Gonc^a ; Alev Ozon^a ; Ayfer Alikasifoglu^a ; Ali Dursun^b ; R.Koksal Ozgul^b

关键词：Congenital adrenal hyperplasia ; CYP11B1 ; 11beta-hydroxylase deficiency ; CYP11B1 novel mutations

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

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