Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce, Sarah B; Stewart, Mikaela D; Gulsuner, Suleyman; Walsh, Tom; Dhall, Abhinav; McClellan, Jon M; Klevit, Rachel E; King, Mary-Claire.

Proc Natl Acad Sci U S A ; 115(7): 1558-1563, 2018 02 13.

Artigo em Inglês | MEDLINE | ID: mdl-29386386

2.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Navon Elkan, Paulina; Pierce, Sarah B; Segel, Reeval; Walsh, Tom; Barash, Judith; Padeh, Shai; Zlotogorski, Abraham; Berkun, Yackov; Press, Joseph J; Mukamel, Masha; Voth, Isabel; Hashkes, Philip J; Harel, Liora; Hoffer, Vered; Ling, Eduard; Yalcinkaya, Fatos; Kasapcopur, Ozgur; Lee, Ming K; Klevit, Rachel E; Renbaum, Paul; Weinberg-Shukron, Ariella; Sener, Elif F; Schormair, Barbara; Zeligson, Sharon; Marek-Yagel, Dina; Strom, Tim M; Shohat, Mordechai; Singer, Amihood; Rubinow, Alan; Pras, Elon; Winkelmann, Juliane; Tekin, Mustafa; Anikster, Yair; King, Mary-Claire; Levy-Lahad, Ephrat.

N Engl J Med ; 370(10): 921-31, 2014 Mar 06.

Artigo em Inglês | MEDLINE | ID: mdl-24552285

3.

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.

Pierce, Sarah B; Gersak, Ksenija; Michaelson-Cohen, Rachel; Walsh, Tom; Lee, Ming K; Malach, Daniel; Klevit, Rachel E; King, Mary-Claire; Levy-Lahad, Ephrat.

Am J Hum Genet ; 92(4): 614-20, 2013 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-23541342

4.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Pierce, Sarah B; Chisholm, Karen M; Lynch, Eric D; Lee, Ming K; Walsh, Tom; Opitz, John M; Li, Weiqing; Klevit, Rachel E; King, Mary-Claire.

Proc Natl Acad Sci U S A ; 108(16): 6543-8, 2011 Apr 19.

Artigo em Inglês | MEDLINE | ID: mdl-21464306

5.

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce, Sarah B; Spurrell, Cailyn H; Mandell, Jessica B; Lee, Ming K; Zeligson, Sharon; Bereman, Michael S; Stray, Sunday M; Fokstuen, Siv; MacCoss, Michael J; Levy-Lahad, Ephrat; King, Mary-Claire; Motulsky, Arno G.

Proc Natl Acad Sci U S A ; 108(45): 18313-7, 2011 Nov 08.

Artigo em Inglês | MEDLINE | ID: mdl-22042873

6.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

Pierce, Sarah B; Walsh, Tom; Chisholm, Karen M; Lee, Ming K; Thornton, Anne M; Fiumara, Agata; Opitz, John M; Levy-Lahad, Ephrat; Klevit, Rachel E; King, Mary-Claire.

Am J Hum Genet ; 87(2): 282-8, 2010 Aug 13.

Artigo em Inglês | MEDLINE | ID: mdl-20673864

7.

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh, Tom; Pierce, Sarah B; Lenz, Danielle R; Brownstein, Zippora; Dagan-Rosenfeld, Orit; Shahin, Hashem; Roeb, Wendy; McCarthy, Shane; Nord, Alex S; Gordon, Carlos R; Ben-Neriah, Ziva; Sebat, Jonathan; Kanaan, Moien; Lee, Ming K; Frydman, Moshe; King, Mary-Claire; Avraham, Karen B.

Am J Hum Genet ; 87(1): 101-9, 2010 Jul 09.

Artigo em Inglês | MEDLINE | ID: mdl-20602916

8.

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.

Kamal, Lara; Pierce, Sarah B; Canavati, Christina; Rayyan, Amal Abu; Jaraysa, Tamara; Lobel, Orit; Lolas, Suhair; Norquist, Barbara M; Rabie, Grace; Zahdeh, Fouad; Levy-Lahad, Ephrat; King, Mary-Claire; Kanaan, Moien N.

Cold Spring Harb Mol Case Stud ; 6(5)2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-33028645

9.

Drosophila growth and development in the absence of dMyc and dMnt.

Pierce, Sarah B; Yost, Cynthia; Anderson, Sarah A R; Flynn, Erin M; Delrow, Jeffrey; Eisenman, Robert N.

Dev Biol ; 315(2): 303-16, 2008 Mar 15.

Artigo em Inglês | MEDLINE | ID: mdl-18241851

10.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Pierce, Sarah B; Gulsuner, Suleyman; Stapleton, Gail A; Walsh, Tom; Lee, Ming K; Mandell, Jessica B; Morales, Augusto; Klevit, Rachel E; King, Mary-Claire; Rogers, R Curtis.

Cold Spring Harb Mol Case Stud ; 2(4): a001107, 2016 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-27551684

11.

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

Bayram, Yavuz; Gulsuner, Suleyman; Guran, Tulay; Abaci, Ayhan; Yesil, Gozde; Gulsuner, Hilal Unal; Atay, Zeynep; Pierce, Sarah B; Gambin, Tomasz; Lee, Ming; Turan, Serap; Bober, Ece; Atik, Mehmed M; Walsh, Tom; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N; Muzny, Donna; Bereket, Abdullah; Buyukgebiz, Atilla; Boerwinkle, Eric; Gibbs, Richard A; King, Mary-Claire; Lupski, James R.

J Clin Endocrinol Metab ; 100(5): E808-14, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25774885

12.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino, Hiroyuki; Pierce, Sarah B; Matsuda, Yukiko; Walsh, Tom; Ohsawa, Ryosuke; Newby, Marta; Hiraki-Kamon, Keiko; Kuramochi, Masahito; Lee, Ming K; Klevit, Rachel E; Martin, Alan; Maruyama, Hirofumi; King, Mary-Claire; Kawakami, Hideshi.

Neurology ; 83(22): 2054-61, 2014 Nov 25.

Artigo em Inglês | MEDLINE | ID: mdl-25355836

13.

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.

Walsh, Tom; McClellan, Jon M; McCarthy, Shane E; Addington, Anjené M; Pierce, Sarah B; Cooper, Greg M; Nord, Alex S; Kusenda, Mary; Malhotra, Dheeraj; Bhandari, Abhishek; Stray, Sunday M; Rippey, Caitlin F; Roccanova, Patricia; Makarov, Vlad; Lakshmi, B; Findling, Robert L; Sikich, Linmarie; Stromberg, Thomas; Merriman, Barry; Gogtay, Nitin; Butler, Philip; Eckstrand, Kristen; Noory, Laila; Gochman, Peter; Long, Robert; Chen, Zugen; Davis, Sean; Baker, Carl; Eichler, Evan E; Meltzer, Paul S; Nelson, Stanley F; Singleton, Andrew B; Lee, Ming K; Rapoport, Judith L; King, Mary-Claire; Sebat, Jonathan.

Science ; 320(5875): 539-43, 2008 Apr 25.

Artigo em Inglês | MEDLINE | ID: mdl-18369103

14.

Myc: a weapon of mass destruction.

Secombe, Julie; Pierce, Sarah B; Eisenman, Robert N.

Cell ; 117(2): 153-6, 2004 Apr 16.

Artigo em Inglês | MEDLINE | ID: mdl-15084254

15.

dMyc is required for larval growth and endoreplication in Drosophila.

Pierce, Sarah B; Yost, Cynthia; Britton, Jessica S; Loo, Lenora W M; Flynn, Erin M; Edgar, Bruce A; Eisenman, Robert N.

Development ; 131(10): 2317-27, 2004 May.

Artigo em Inglês | MEDLINE | ID: mdl-15128666

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