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Page 1
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
Arq Neuropsiquiatr. 2016 Feb;74(2):166-76. doi: 10.1590/0004-282X20150194. Epub 2015 Dec 22.
Arq Neuropsiquiatr. 2016.
PMID: 26690841
Free article.
Review.
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; RARAS Network group.
Félix TM, et al.
Orphanet J Rare Dis. 2022 Feb 24;17(1):84. doi: 10.1186/s13023-022-02254-4.
Orphanet J Rare Dis. 2022.
PMID: 35209917
Free PMC article.
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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Júnior JC, Arberas C, Guillén-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P.
Cardoso LCA, et al. Among authors: llerena junior jc.
Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807.
Cancers (Basel). 2022.
PMID: 35954470
Free PMC article.
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Strategic analysis of a medical genetics center at a national health research institute in Brazil: challenges for the country's public health system.
Artmann E, Llerena Junior JC, Pereira LT, Binsfeld L, Rivera FJU.
Artmann E, et al. Among authors: llerena junior jc.
Cien Saude Colet. 2021 Aug 30;26(suppl 2):3481-3492. doi: 10.1590/1413-81232021269.2.27272019. eCollection 2021.
Cien Saude Colet. 2021.
PMID: 34468644
Free article.
English, Portuguese.
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A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
Ferreira IR, Costa RA, Gomes LHF, Dos Santos Cunha WD, Tyszler LS, Freitas S, Llerena Junior JC, de Vasconcelos ZFM, Nicholls RD, Guida LDC.
Ferreira IR, et al. Among authors: llerena junior jc.
Sci Rep. 2020 Aug 3;10(1):13026. doi: 10.1038/s41598-020-69750-0.
Sci Rep. 2020.
PMID: 32747801
Free PMC article.
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An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.
Lovatel VL, de Souza DC, Alvarenga TF, Capela de Matos RR, Diniz C, Schramm MT, Llerena Júnior JC, Silva MLM, Abdelhay E, de Souza Fernandez T.
Lovatel VL, et al. Among authors: llerena junior jc.
Mol Cytogenet. 2018 Jul 11;11:40. doi: 10.1186/s13039-018-0389-x. eCollection 2018.
Mol Cytogenet. 2018.
PMID: 30008805
Free PMC article.
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