Kok F - Search Results

1

X chromosome-inactivation patterns in patients with Rett syndrome.

Krepischi AC, Kok F, Otto PG. Krepischi AC, et al. Among authors: kok f. Hum Genet. 1998 Mar;102(3):319-21. doi: 10.1007/s004390050698. Hum Genet. 1998. PMID: 9544845

2

In search of a genetic basis for the Rett syndrome.

Martinho PS, Otto PG, Kok F, Diament A, Marques-Dias MJ, Gonzalez CH. Martinho PS, et al. Among authors: kok f. Hum Genet. 1990 Dec;86(2):131-4. doi: 10.1007/BF00197693. Hum Genet. 1990. PMID: 2265825

3

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.

Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP. Fridman C, et al. Among authors: kok f. Am J Med Genet. 2000 Jun 19;92(5):322-7. doi: 10.1002/1096-8628(20000619)92:5<322::aid-ajmg6>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10861661

4

Prader-Willi syndrome: genetic tests and clinical findings.

Fridman C, Varela MC, Kok F, Setian N, Koiffmann CP. Fridman C, et al. Among authors: kok f. Genet Test. 2000;4(4):387-92. doi: 10.1089/109065700750065144. Genet Test. 2000. PMID: 11216664

5

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR. Suzuki OT, et al. Among authors: kok f. Am J Hum Genet. 2002 Dec;71(6):1320-9. doi: 10.1086/344695. Epub 2002 Nov 1. Am J Hum Genet. 2002. PMID: 12415512 Free PMC article.

6

[Hypotonic infants and the Prader-Willi Syndrome].

Fridman C, Kok F, Koiffmann CP. Fridman C, et al. Among authors: kok f. J Pediatr (Rio J). 2000 May-Jun;76(3):246-50. doi: 10.2223/jped.66. J Pediatr (Rio J). 2000. PMID: 14647678 Portuguese.

7

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: kok f. Eur J Hum Genet. 2004 Dec;12(12):1033-40. doi: 10.1038/sj.ejhg.5201289. Eur J Hum Genet. 2004. PMID: 15367920

8

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M. Nishimura AL, et al. Among authors: kok f. Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372378 Free PMC article.

9

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

Varela MC, Kok F, Otto PA, Koiffmann CP. Varela MC, et al. Among authors: kok f. Eur J Hum Genet. 2004 Dec;12(12):987-92. doi: 10.1038/sj.ejhg.5201264. Eur J Hum Genet. 2004. PMID: 15470370

10

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.

Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Varela MC, et al. Among authors: kok f. Clin Genet. 2005 Jan;67(1):47-52. doi: 10.1111/j.1399-0004.2005.00377.x. Clin Genet. 2005. PMID: 15617548

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