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在“Elsevier”中，命中：21条，耗时：0.018961 秒

1.Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

作者：Rita Joã ; o Guerreiro^a ; ^b ; ^c ; ¹ ; Ebba Lohmann^d ; ¹ ; Emma Kinsella^a ; ^e ; José ; Miguel Brá ; s^a ; ^b ; ^c ; Nga Luu^a ; Nicole Gurunlian^c ; Burcu Dursun^f ; Basar Bilgic^d ; Isabel Santana^g ; Hasmet Hanagasi^d ; Hakan Gurvit^d ; Jesse Raphael Gibbs^a ; ^c ; Catarina Oliveira^b ; ^g ; Murat Emre^d ; Andrew Singleton^a ; ^{Singleta@mail.nih.gov}

关键词：Alzheimer's disease ; NOTCH3 ; CADASIL ; Exome sequencing

刊名：Neurobiology of Aging

出版年：2012

2.Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

作者：Young-Min Lim^a ; ¹ ; ^{lim_y_m@hanmail.net} ; InSong Koh^b ; ¹ ; Young-Mi Park^c ; ¹ ; Jae-Jung Kim^c ; Dae-Seong Kim^d ; Hyo-Jin Kim^a ; Kyu-Heum Baik^e ; Hye-Yeon Choi^e ; Gap-Seok Yang^e ; Eva Also-Rallo^f ; Eduardo F. Tizzano^f ; Josep Gamez^g ; Kiejung Park^h ; Han-Wook Yooⁱ ; Jong-Keuk Lee^c ; ^{cookie_jklee@hotmail.com} ; Kwang-Kuk Kim^a ; ^{kkkim@amc.seoul.kr}

关键词：C5orf42 ; Exome sequencing ; KIAA1377 ; Monomelic amyotrophy

刊名：Neuromuscular Disorders

出版年：2012

3.Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

作者：Thomas C. Markello^a ; ^b ; ^{markellot@mail.nih.gov} ; Ted Han^a ; ¹ ; Hannah Carlson-Donohoe^c ; Chidi Ahaghotu^a ; Ursula Harper^d ; MaryPat Jones^d ; Settara Chandrasekharappa^d ; Yair Anikster^a ; ^e ; David R. Adams^a ; ^b ; NISC Comparative Sequencing Program^f ; William A. Gahl^a ; ^b ; Cornelius F. Boerkoel^b

关键词：Linkage ; Recombination ; Mapping ; Exome sequencing ; Single nucleotide variants

刊名：Molecular Genetics and Metabolism

出版年：2012

4.Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

作者：Rita M. Cabral^a ; ¹ ; Mazen Kurban^a ; ¹ ; Muhammad Wajid^a ; Yutaka Shimomura^a ; Lynn Petukhova^a ; ^b ; Angela M. Christiano^a ; ^c ; ^{amc65@columbia.edu}

关键词：GalNAc4-ST ; N-acetylgalactosamine-4-O-sulfotransferase ; PSS ; peeling skin syndrome ; APSS ; acral peeling skin syndrome ; GAG ; glycosaminoglycan ; TGM5 ; tranglutaminase 5 ; CDSN ; corneodesmosin ; NS ; Netherton syndrome ; CSTA ; cystatin A ; DMMB ; 1 ; 9-dimethylmethy

刊名：Genomics

出版年：2012

5.Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

作者：Michael Kirwan¹ ; ² ; ⁶ ; ^{m.j.kirwan@qmul.ac.uk} ; Amanda ; J. Walne¹ ; ² ; ⁶ ; Vincent Plagnol³ ; Mark Velangi⁴ ; Aloysius Ho⁵ ; Upal Hossain¹ ; ² ; Tom Vulliamy¹ ; ² ; ⁷ ; Inderjeet Dokal¹ ; ² ; ⁷

刊名：The American Journal of Human Genetics

出版年：2012

6.Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities

作者：Xi Lin^a ; ^b ; ^{xlin2@emory.edu} ; Wenxue Tang^a ; Shoeb Ahmad^a ; Jingqiao Lu^a ; Candice C. Colby^a ; Jason Zhu^a ; Qing Yu^a ; ^c

刊名：Hearing Research

出版年：2012

7.Identification of a mutation in LARS as a novel cause of infantile hepatopathy

作者：Jillian P. Casey^a ; ^b ; ^{jillian.casey@ncrc.ie} ; Paul McGettigan^c ; ^{paul.mcgettigan@ucd.ie} ; Niamh Lynam-Lennon^d ; ^{lynamlen@tcd.ie} ; Michael McDermott^e ; ^{Michael.McDermott@olchc.ie} ; Regina Regan^a ; ^b ; ^{regina.regan@ucd.ie} ; Judith Conroy^a ; ^b ; ^{Judith.conroy@ucd.ie} ; Billy Bourke^a ; ^b ; ^{billy.bourke@ucd.ie} ; Jacintha O' Sullivan^d ; ^{OSULLIJ4@tcd.ie} ; Ellen Crushell^f ; ^{ellen.crushell@cuh.ie} ; SallyAnn Lynch^g ; ^h ; ^{SallyAnn.Lynch@olchc.ie} ; Sean Ennis^b ; ^g ; ^{sean.ennis@ucd.ie}

关键词：SNP ; single nucleotide polymorphism ; PDB ; protein data-bank ; siRNA ; small-interfering ribonucleic acid ; LARS ; gene encoding the cytoplasmic leucyl-tRNA synthetase ; MMP ; mitochondrial membrane potential ; ROS ; reactive oxygen species ; LeuRS ; leucyl-tRNA syn

刊名：Molecular Genetics and Metabolism

出版年：2012

8.Somatic hypermutation and outcomes of platinum based chemotherapy in patients with high grade serous ovarian cancer

作者：Insuk Sohn^a ; Woon Yong Jung^b ; Chang Ohk Sung^b ; ^{co.sung@amc.seoul.kr}

关键词：Ovarian cancer ; Mutation ; Sequencing ; Platinum ; Chemotherapy ; Prognosis

刊名：Gynecologic Oncology

出版年：2012

9.Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

作者：Thomas C. Markello^a ; ^{markellot@mail.nih.gov} ; Hannah Carlson-Donohoe^b ; Murat Sincan^b ; David Adams^b ; ^c ; David M. Bodine^d ; Jason E. Farrar^e ; Adrianna Vlachos^f ; ^g ; Jeffrey M. Lipton^f ; ^g ; Arleen D. Auerbach^h ; Elaine A. Ostranderⁱ ; Settara C. Chandrasekharappa^j ; Cornelius F. Boerkoel^c ; William A. Gahl^a ; ^b ; ^c

关键词：Mosaicism ; Continuous Distribution Function ; Distribution Analysis by Fitting Integrated Probabilities ; DANFIP ; CGH ; Array comparative genomic hybridization

刊名：Molecular Genetics and Metabolism

出版年：2012

10.Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

作者：Arianna Tucci^a ; ^{a.tucci.09@ucl.ac.uk} ; Gavin Charlesworth^a ; Una-Marie Sheerin^a ; Vincent Plagnol^b ; Nicholas W. Wood^a ; John Hardy^a

关键词：Parkinson's Disease ; EIF4G1

刊名：Neuroscience Letters

出版年：2012

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