Kok F - Search Results

1

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK. Guindalini RSC, et al. Among authors: kok f. Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1. Sci Rep. 2022. PMID: 35264596 Free PMC article.

2

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: kok f. Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41. Neurology. 2005. PMID: 16344536

3

Autosomal recessive ataxias: 20 types, and counting.

Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Embiruçu EK, et al. Among authors: kok f. Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036. Arq Neuropsiquiatr. 2009. PMID: 20069237 Free article. Review.

4

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: kok f. Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649523 Free PMC article.

5

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F. Melo US, et al. Among authors: kok f. Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10. Clin Genet. 2018. PMID: 30198554 No abstract available.

6

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations.

de Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, Zatz M, Kok F, Santos S. de Farias AA, et al. Among authors: kok f. Sci Rep. 2018 Nov 8;8(1):16552. doi: 10.1038/s41598-018-35022-1. Sci Rep. 2018. PMID: 30410084 Free PMC article.

7

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Monteiro FP, et al. Among authors: kok f. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690204

8

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F. Ramos LLP, et al. Among authors: kok f. Clin Case Rep. 2019 Jul 11;7(8):1582-1584. doi: 10.1002/ccr3.2260. eCollection 2019 Aug. Clin Case Rep. 2019. PMID: 31428396 Free PMC article.

9

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: kok f. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.

10

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.

Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: kok f. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.

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