165 related articles for article (PubMed ID: 37356424)
1. Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.
de Oliveira BM; Neiva MB; Carvalho I; Schwartz IVD; Alves D; Felix TM;
Public Health Genomics; 2023; 26(1):145-158. PubMed ID: 37356424
[TBL] [Abstract][Full Text] [Related]
2. Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Félix TM; de Oliveira BM; Artifon M; Carvalho I; Bernardi FA; Schwartz IVD; Saute JA; Ferraz VEF; Acosta AX; Sorte NB; Alves D;
Orphanet J Rare Dis; 2022 Feb; 17(1):84. PubMed ID: 35209917
[TBL] [Abstract][Full Text] [Related]
3. The future of Cochrane Neonatal.
Soll RF; Ovelman C; McGuire W
Early Hum Dev; 2020 Nov; 150():105191. PubMed ID: 33036834
[TBL] [Abstract][Full Text] [Related]
4. Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.
Giugliani R; Vairo FP; Riegel M; de Souza CF; Schwartz IV; Pena SD
Orphanet J Rare Dis; 2016 Jun; 11(1):76. PubMed ID: 27282290
[TBL] [Abstract][Full Text] [Related]
5. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
[TBL] [Abstract][Full Text] [Related]
6. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Félix TM; Fischinger Moura de Souza C; Oliveira JB; Rico-Restrepo M; Zanoteli E; Zatz M; Giugliani R
Int J Equity Health; 2023 Jan; 22(1):11. PubMed ID: 36639662
[TBL] [Abstract][Full Text] [Related]
7. Analysis of national coverage of neonatal cystic fibrosis screening in Brazil from 2008 to 2017.
Sadigurschi G; Vaz Micherino B; Assunção Mendes da Cunha MB; Antão Paiva CL; da Silva E Sá GR
J Matern Fetal Neonatal Med; 2022 Dec; 35(25):5204-5209. PubMed ID: 33491525
[TBL] [Abstract][Full Text] [Related]
8. Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases.
Cunico C; Vicente G; Leite SN
Orphanet J Rare Dis; 2023 Aug; 18(1):259. PubMed ID: 37653461
[TBL] [Abstract][Full Text] [Related]
9. Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Berry SA; Leslie ND; Edick MJ; Hiner S; Justice K; Cameron C
Genet Med; 2016 Dec; 18(12):1276-1281. PubMed ID: 27195819
[TBL] [Abstract][Full Text] [Related]
10. Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act.
Adachi K; Satou K; Nanba E
J Hum Genet; 2021 Nov; 66(11):1043-1051. PubMed ID: 34059779
[TBL] [Abstract][Full Text] [Related]
11. Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S; Angolini E; Audi J; Bertini E; Bruno LP; Coulter J; Ferlini A; Fortunato F; Frankova V; Garnier N; Grauman Å; Gross E; Hauber B; Hansson M; Kirschner J; Knieling F; Kyosovksa G; Ottombrino S; Novelli A; Raming R; Sansen S; Saier C; Veldwijk J
BMJ Open; 2024 Apr; 14(4):e081835. PubMed ID: 38643010
[TBL] [Abstract][Full Text] [Related]
12. Patient care in cystic fibrosis centers: a real-world analysis in Brazil.
Procianoy EDFA; Ludwig Neto N; Ribeiro AF
J Bras Pneumol; 2023; 49(1):e20220306. PubMed ID: 36753213
[TBL] [Abstract][Full Text] [Related]
13. Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.
Alves D; Yamada DB; Bernardi FA; Carvalho I; Filho MEC; Neiva MB; Lima VC; Félix TM
JMIR Res Protoc; 2021 Jan; 10(1):e24826. PubMed ID: 33480849
[TBL] [Abstract][Full Text] [Related]
14. Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity.
Ferreira CS; da Silva Francisco Junior R; Gerber AL; Guimarães APC; Amendola FA; Pinto-Mariz F; de Souza MS; Miranda PCB; de Vasconcelos ZFM; Goudouris ES; Vasconcelos ATR
BMC Genom Data; 2023 Jun; 24(1):36. PubMed ID: 37391719
[TBL] [Abstract][Full Text] [Related]
15. Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.
Palmero EI; Kalakun L; Schüler-Faccini L; Giugliani R; Regla Vargas F; Rocha JC; Ashton-Prolla P
Community Genet; 2007; 10(2):110-9. PubMed ID: 17380061
[TBL] [Abstract][Full Text] [Related]
16. Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Ferlini A; Gross ES; Garnier N;
Orphanet J Rare Dis; 2023 Oct; 18(1):310. PubMed ID: 37794437
[TBL] [Abstract][Full Text] [Related]
17. [A census of medical genetics services in Argentina].
Liascovich R; Rozental S; Barbero P; Alba L; Ortiz Z
Rev Panam Salud Publica; 2006 Feb; 19(2):104-11. PubMed ID: 16551384
[TBL] [Abstract][Full Text] [Related]
18. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
Centers for Disease Control and Prevention (CDC)
MMWR Recomm Rep; 2012 Apr; 61(RR-2):1-44. PubMed ID: 22475884
[TBL] [Abstract][Full Text] [Related]
19. From the search for diagnosis to treatment uncertainties: challenges of care for rare genetic diseases in Brazil.
Iriart JAB; Nucci MF; Muniz TP; Viana GB; Aureliano WA; Gibbon S
Cien Saude Colet; 2019; 24(10):3637-3650. PubMed ID: 31576994
[TBL] [Abstract][Full Text] [Related]
20. Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
Langfelder-Schwind E; Raraigh KS; Parad RB
J Genet Couns; 2019 Dec; 28(6):1178-1188. PubMed ID: 31550062
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]