212 related articles for article (PubMed ID: 32561571)
1. Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M; Li P; Li Q; Chen H; Zhong Y; Li S; Jin L; Wang W; Chen Z; Zhong J; Geng B; Fan Y; Yang X; Cai J
J Med Genet; 2020 Aug; 57(8):571-580. PubMed ID: 32561571
[TBL] [Abstract][Full Text] [Related]
2. Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X; Li M; Tong A; Wang F; Cui Y; Zhang X; Zhang Y; Chen S; Li Y
Front Endocrinol (Lausanne); 2020; 11():574662. PubMed ID: 33362715
[TBL] [Abstract][Full Text] [Related]
3. PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.
Currás-Freixes M; Piñeiro-Yañez E; Montero-Conde C; Apellániz-Ruiz M; Calsina B; Mancikova V; Remacha L; Richter S; Ercolino T; Rogowski-Lehmann N; Deutschbein T; Calatayud M; Guadalix S; Álvarez-Escolá C; Lamas C; Aller J; Sastre-Marcos J; Lázaro C; Galofré JC; Patiño-García A; Meoro-Avilés A; Balmaña-Gelpi J; De Miguel-Novoa P; Balbín M; Matías-Guiu X; Letón R; Inglada-Pérez L; Torres-Pérez R; Roldán-Romero JM; Rodríguez-Antona C; Fliedner SMJ; Opocher G; Pacak K; Korpershoek E; de Krijger RR; Vroonen L; Mannelli M; Fassnacht M; Beuschlein F; Eisenhofer G; Cascón A; Al-Shahrour F; Robledo M
J Mol Diagn; 2017 Jul; 19(4):575-588. PubMed ID: 28552549
[TBL] [Abstract][Full Text] [Related]
4. Next-generation panel sequencing identifies
Gieldon L; Masjkur JR; Richter S; Därr R; Lahera M; Aust D; Zeugner S; Rump A; Hackmann K; Tzschach A; Januszewicz A; Prejbisz A; Eisenhofer G; Schrock E; Robledo M; Klink B
Eur J Endocrinol; 2018 Feb; 178(2):K1-K9. PubMed ID: 29158289
[TBL] [Abstract][Full Text] [Related]
5. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim L; Pigny P; Castro-Vega LJ; Buffet A; Amar L; Bertherat J; Drui D; Guilhem I; Baudin E; Lussey-Lepoutre C; Corsini C; Chabrier G; Briet C; Faivre L; Cardot-Bauters C; Favier J; Gimenez-Roqueplo AP; Burnichon N
J Med Genet; 2019 Aug; 56(8):513-520. PubMed ID: 30877234
[TBL] [Abstract][Full Text] [Related]
6. Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.
Yamaguchi T; Nakamura A; Nakayama K; Hishimura N; Morikawa S; Ishizu K; Tajima T
J Clin Endocrinol Metab; 2020 Aug; 105(8):. PubMed ID: 32459320
[TBL] [Abstract][Full Text] [Related]
7. Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE; Sulovari A; Wang T; Loucks H; Hoekzema K; Munson KM; Lewis AP; Fuerte EPA; Paschal CR; Walsh T; Thies J; Bennett JT; Glass I; Dipple KM; Patterson K; Bonkowski ES; Nelson Z; Squire A; Sikes M; Beckman E; Bennett RL; Earl D; Lee W; Allikmets R; Perlman SJ; Chow P; Hing AV; Wenger TL; Adam MP; Sun A; Lam C; Chang I; Zou X; Austin SL; Huggins E; Safi A; Iyengar AK; Reddy TE; Majoros WH; Allen AS; Crawford GE; Kishnani PS; ; King MC; Cherry T; Chong JX; Bamshad MJ; Nickerson DA; Mefford HC; Doherty D; Eichler EE
Am J Hum Genet; 2021 Aug; 108(8):1436-1449. PubMed ID: 34216551
[TBL] [Abstract][Full Text] [Related]
8. Juvenile-onset hereditary pheochromocytoma-paraganglioma syndrome.
Sugisawa C; Okada Y; Arao T; Mori H; Nishida K; Isobe K; Takekoshi K; Tanaka Y
Intern Med; 2013; 52(2):281-4. PubMed ID: 23318864
[TBL] [Abstract][Full Text] [Related]
9. Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations.
Pillai S; Gopalan V; Lo CY; Liew V; Smith RA; Lam AK
Exp Mol Pathol; 2017 Feb; 102(1):41-46. PubMed ID: 27986441
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
11. Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Isik E; Onay H; Atik T; Canda E; Cogulu O; Coker M; Ozkinay F
Eur J Med Genet; 2019 Oct; 62(10):103725. PubMed ID: 31319225
[TBL] [Abstract][Full Text] [Related]
12. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ; Balamir A; Uğurlu S; Aydın AK; Everest E; Zor S; Önen MÖ; Daşdemir S; Özkaya O; Sözeri B; Tufan A; Yıldırım DG; Yüksel S; Ayaz NA; Ömeroğlu RE; Öztürk K; Çakan M; Söylemezoğlu O; Şahin S; Barut K; Adroviç A; Seyahi E; Özdoğan H; Kasapçopur Ö; Turanlı ET
Rheumatol Int; 2019 May; 39(5):911-919. PubMed ID: 30783801
[TBL] [Abstract][Full Text] [Related]
13. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Currás-Freixes M; Inglada-Pérez L; Mancikova V; Montero-Conde C; Letón R; Comino-Méndez I; Apellániz-Ruiz M; Sánchez-Barroso L; Aguirre Sánchez-Covisa M; Alcázar V; Aller J; Álvarez-Escolá C; Andía-Melero VM; Azriel-Mira S; Calatayud-Gutiérrez M; Díaz JÁ; Díez-Hernández A; Lamas-Oliveira C; Marazuela M; Matias-Guiu X; Meoro-Avilés A; Patiño-García A; Pedrinaci S; Riesco-Eizaguirre G; Sábado-Álvarez C; Sáez-Villaverde R; Sainz de Los Terreros A; Sanz Guadarrama Ó; Sastre-Marcos J; Scolá-Yurrita B; Segura-Huerta Á; Serrano-Corredor Mde L; Villar-Vicente MR; Rodríguez-Antona C; Korpershoek E; Cascón A; Robledo M
J Med Genet; 2015 Oct; 52(10):647-56. PubMed ID: 26269449
[TBL] [Abstract][Full Text] [Related]
14. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S; Wang L; Zhao D; Zhang Y; Chen Y; Tan J; Liang L; Zhu T
Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
[TBL] [Abstract][Full Text] [Related]
15. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
; Toledo RA; Burnichon N; Cascon A; Benn DE; Bayley JP; Welander J; Tops CM; Firth H; Dwight T; Ercolino T; Mannelli M; Opocher G; Clifton-Bligh R; Gimm O; Maher ER; Robledo M; Gimenez-Roqueplo AP; Dahia PL
Nat Rev Endocrinol; 2017 Apr; 13(4):233-247. PubMed ID: 27857127
[TBL] [Abstract][Full Text] [Related]
16. Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC; Zhou XY; Li SY; Zhao MM; Huang HF; Jia J; Xu CM
J Assist Reprod Genet; 2023 Sep; 40(9):2157-2173. PubMed ID: 37450097
[TBL] [Abstract][Full Text] [Related]
17. Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
Bayley JP; Bausch B; Rijken JA; van Hulsteijn LT; Jansen JC; Ascher D; Pires DEV; Hes FJ; Hensen EF; Corssmit EPM; Devilee P; Neumann HPH
J Med Genet; 2020 Feb; 57(2):96-103. PubMed ID: 31492822
[TBL] [Abstract][Full Text] [Related]
18. Pheochromocytoma and paraganglioma: molecular testing and personalized medicine.
Burnichon N; Buffet A; Gimenez-Roqueplo AP
Curr Opin Oncol; 2016 Jan; 28(1):5-10. PubMed ID: 26599293
[TBL] [Abstract][Full Text] [Related]
19. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J; Li J; Saucier JB; Feng Y; Jiang Y; Sinson J; McCombs AK; Schmitt ES; Peacock S; Chen S; Dai H; Ge X; Wang G; Shaw CA; Mei H; Breman A; Xia F; Yang Y; Purgason A; Pourpak A; Chen Z; Wang X; Wang Y; Kulkarni S; Choy KW; Wapner RJ; Van den Veyver IB; Beaudet A; Parmar S; Wong LJ; Eng CM
Nat Med; 2019 Mar; 25(3):439-447. PubMed ID: 30692697
[TBL] [Abstract][Full Text] [Related]
20. Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.
Toledo RA; Dahia PL
Curr Opin Endocrinol Diabetes Obes; 2015 Jun; 22(3):169-79. PubMed ID: 25871962
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
