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1.

Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis.

Manthiram, Kalpana; Preite, Silvia; Dedeoglu, Fatma; Demir, Selcan; Ozen, Seza; Edwards, Kathryn M; Lapidus, Sivia; Katz, Alexander E; Feder, Henry M; Lawton, Maranda; Licameli, Greg R; Wright, Peter F; Le, Julie; Barron, Karyl S; Ombrello, Amanda K; Barham, Beverly; Romeo, Tina; Jones, Anne; Srinivasalu, Hemalatha; Mudd, Pamela A; DeBiasi, Roberta L; Gül, Ahmet; Marshall, Gary S; Jones, Olcay Y; Chandrasekharappa, Settara C; Stepanovskiy, Yuriy; Ferguson, Polly J; Schwartzberg, Pamela L; Remmers, Elaine F; Kastner, Daniel L.

Proc Natl Acad Sci U S A; 117(25): 14405-14411, 2020 06 23.

Artículo en Inglés | MEDLINE | ID: mdl-32518111

2.

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.

Gourh, Pravitt; Safran, Sarah A; Alexander, Theresa; Boyden, Steven E; Morgan, Nadia D; Shah, Ami A; Mayes, Maureen D; Doumatey, Ayo; Bentley, Amy R; Shriner, Daniel; Domsic, Robyn T; Medsger, Thomas A; Ramos, Paula S; Silver, Richard M; Steen, Virginia D; Varga, John; Hsu, Vivien; Saketkoo, Lesley Ann; Schiopu, Elena; Khanna, Dinesh; Gordon, Jessica K; Kron, Brynn; Criswell, Lindsey A; Gladue, Heather; Derk, Chris T; Bernstein, Elana J; Bridges, S Louis; Shanmugam, Victoria K; Kolstad, Kathleen D; Chung, Lorinda; Kafaja, Suzanne; Jan, Reem; Trojanowski, Marcin; Goldberg, Avram; Korman, Benjamin D; Steinbach, Peter J; Chandrasekharappa, Settara C; Mullikin, James C; Adeyemo, Adebowale; Rotimi, Charles; Wigley, Fredrick M; Kastner, Daniel L; Boin, Francesco; Remmers, Elaine F.

Proc Natl Acad Sci U S A; 117(1): 552-562, 2020 01 07.

Artículo en Inglés | MEDLINE | ID: mdl-31871193

3.

Association of clinical severity with FANCB variant type in Fanconi anemia.

Jung, Moonjung; Ramanagoudr-Bhojappa, Ramanagouda; van Twest, Sylvie; Rosti, Rasim Ozgur; Murphy, Vincent; Tan, Winnie; Donovan, Frank X; Lach, Francis P; Kimble, Danielle C; Jiang, Caroline S; Vaughan, Roger; Mehta, Parinda A; Pierri, Filomena; Dufour, Carlo; Auerbach, Arleen D; Deans, Andrew J; Smogorzewska, Agata; Chandrasekharappa, Settara C.

Blood; 135(18): 1588-1602, 2020 04 30.

Artículo en Inglés | MEDLINE | ID: mdl-32106311

4.

Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.

Ramanagoudr-Bhojappa, Ramanagouda; Carrington, Blake; Ramaswami, Mukundhan; Bishop, Kevin; Robbins, Gabrielle M; Jones, MaryPat; Harper, Ursula; Frederickson, Stephen C; Kimble, Danielle C; Sood, Raman; Chandrasekharappa, Settara C.

PLoS Genet; 14(12): e1007821, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30540754

5.

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.

Donovan, Frank X; Solanki, Avani; Mori, Minako; Chavan, Niranjan; George, Merin; C, Selvaa Kumar; Okuno, Yusuke; Muramastsu, Hideki; Yoshida, Kenichi; Shimamoto, Akira; Takaori-Kondo, Akifumi; Yabe, Hiromasa; Ogawa, Seishi; Kojima, Seiji; Yabe, Miharu; Ramanagoudr-Bhojappa, Ramanagouda; Smogorzewska, Agata; Mohan, Sheila; Rajendran, Aruna; Auerbach, Arleen D; Takata, Minoru; Chandrasekharappa, Settara C; Vundinti, Babu Rao.

Hum Mutat; 41(1): 122-128, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31513304

6.

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.

Kwon, Erika M; Connelly, John P; Hansen, Nancy F; Donovan, Frank X; Winkler, Thomas; Davis, Brian W; Alkadi, Halah; Chandrasekharappa, Settara C; Dunbar, Cynthia E; Mullikin, James C; Liu, Paul.

Proc Natl Acad Sci U S A; 114(8): 1964-1969, 2017 02 21.

Artículo en Inglés | MEDLINE | ID: mdl-28167771

7.

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble, Danielle C; Lach, Francis P; Gregg, Siobhan Q; Donovan, Frank X; Flynn, Elizabeth K; Kamat, Aparna; Young, Alice; Vemulapalli, Meghana; Thomas, James W; Mullikin, James C; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C.

Hum Mutat; 39(2): 237-254, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29098742

8.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan, May Christine V; Vilboux, Thierry; Ben-Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode-Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C; Ferreira, Carlos R; Shelestovich, Natalia; Marek-Yagel, Dina; Pri-Chen, Hadass; Blatt, Ilan; Niederhuber, John E; He, Langping; Toro, Camilo; Taylor, Robert W; Deeken, John; Yardeni, Tal; Wallace, Douglas C; Gahl, William A; Anikster, Yair.

Hum Mutat; 39(1): 69-79, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-29044765

9.

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello, Lisa; Khincha, Payal P; Ellis, Steven R; Giri, Neelam; Brodie, Seth; Chandrasekharappa, Settara C; Donovan, Frank X; Zhou, Weiyin; Hicks, Belynda D; Boland, Joseph F; Yeager, Meredith; Jones, Kristine; Zhu, Bin; Wang, Mingyi; Alter, Blanche P; Savage, Sharon A.

J Med Genet; 54(6): 417-425, 2017 06.

Artículo en Inglés | MEDLINE | ID: mdl-28280134

10.

Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Chandrasekharappa, Settara C; Chinn, Steven B; Donovan, Frank X; Chowdhury, Naweed I; Kamat, Aparna; Adeyemo, Adebowale A; Thomas, James W; Vemulapalli, Meghana; Hussey, Caroline S; Reid, Holly H; Mullikin, James C; Wei, Qingyi; Sturgis, Erich M.

Cancer; 123(20): 3943-3954, 2017 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-28678401

11.

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

Mendonca, Leonardo O; Malle, Louise; Donovan, Frank X; Chandrasekharappa, Settara C; Montealegre Sanchez, Gina A; Garg, Megha; Tedgard, Ulf; Castells, Mariana; Saini, Shiv S; Dutta, Sourabh; Goldbach-Mansky, Raphaela; Suri, Deepti; Jesus, Adriana A.

J Clin Immunol; 37(5): 445-451, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28503715

12.

First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.

Dewan, Ramita; Pemov, Alexander; Dutra, Amalia S; Pak, Evgenia D; Edwards, Nancy A; Ray-Chaudhury, Abhik; Hansen, Nancy F; Chandrasekharappa, Settara C; Mullikin, James C; Asthagiri, Ashok R; Heiss, John D; Stewart, Douglas R; Germanwala, Anand V.

BMC Cancer; 17(1): 127, 2017 02 13.

Artículo en Inglés | MEDLINE | ID: mdl-28193203

13.

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

Donovan, Frank X; Kimble, Danielle C; Kim, Yonghwan; Lach, Francis P; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L; Ostrander, Elaine A; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C.

Hum Mutat; 37(5): 465-8, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-26841305

14.

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.

Sei, Yoshitatsu; Zhao, Xilin; Forbes, Joanne; Szymczak, Silke; Li, Qing; Trivedi, Apurva; Voellinger, Mark; Joy, Grishma; Feng, Jianying; Whatley, Millie; Jones, MaryPat Sussex; Harper, Ursula L; Marx, Stephen J; Venkatesan, Aradhana M; Chandrasekharappa, Settara C; Raffeld, Mark; Quezado, Martha M; Louie, Adeline; Chen, Clara C; Lim, Ramona M; Agarwala, Richa; Schäffer, Alejandro A; Hughes, Marybeth S; Bailey-Wilson, Joan E; Wank, Stephen A.

Gastroenterology; 149(1): 67-78, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25865046

15.

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage, Sharon A; Ballew, Bari J; Giri, Neelam; Chandrasekharappa, Settara C; Ameziane, Najim; de Winter, Johan; Alter, Blanche P.

Am J Med Genet A; 170A(2): 386-391, 2016 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-26590883

16.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa, Settara C; Lach, Francis P; Kimble, Danielle C; Kamat, Aparna; Teer, Jamie K; Donovan, Frank X; Flynn, Elizabeth; Sen, Shurjo K; Thongthip, Supawat; Sanborn, Erica; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A.

Blood; 121(22): e138-48, 2013 May 30.

Artículo en Inglés | MEDLINE | ID: mdl-23613520

17.

One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.

Zainabadi, Kayvan; Jain, Anuja V; Donovan, Frank X; Elashoff, David; Rao, Nagesh P; Murty, Vundavalli V; Chandrasekharappa, Settara C; Srivatsan, Eri S.

Genomics; 103(4): 276-87, 2014 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-24412158

18.

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

Flynn, Elizabeth K; Kamat, Aparna; Lach, Francis P; Donovan, Frank X; Kimble, Danielle C; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M; Gillio, Alfred P; Harris, Richard E; MacMillan, Margaret L; Wagner, John E; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C.

Hum Mutat; 35(11): 1342-53, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25168418

19.

Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

Yang, Jianying; Chandrasekharappa, Settara C; Vilboux, Thierry; Smith, Ann C M; Peterson, Erik J.

J Clin Rheumatol; 20(5): 291-3, 2014 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25036569

20.

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

Markello, Thomas C; Carlson-Donohoe, Hannah; Sincan, Murat; Adams, David; Bodine, David M; Farrar, Jason E; Vlachos, Adrianna; Lipton, Jeffrey M; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C; Boerkoel, Cornelius F; Gahl, William A.

Mol Genet Metab; 105(4): 665-71, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22277120

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