Ramos ES - Search Results

1

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: ramos es. Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022. Am J Hum Genet. 2014. PMID: 24387991 Free PMC article.

2

SRY-negative true hermaphrodites and an XX male in two generations of the same family.

Ramos ES, Moreira-Filho CA, Vicente YA, Llorach-Velludo MA, Tucci S Jr, Duarte MH, Araújo AG, Martelli L. Ramos ES, et al. Hum Genet. 1996 May;97(5):596-8. doi: 10.1007/BF02281867. Hum Genet. 1996. PMID: 8655137

3

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L. Laus AC, et al. Among authors: ramos es. Am J Med Genet A. 2012 Apr;158A(4):821-7. doi: 10.1002/ajmg.a.32988. Epub 2012 Feb 21. Am J Med Genet A. 2012. PMID: 22354628 Review.

4

Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.

Coêlho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N. Coêlho KE, et al. Among authors: ramos es. Am J Med Genet. 1998 Apr 28;77(1):12-5. doi: 10.1002/(sici)1096-8628(19980428)77:1<12::aid-ajmg3>3.0.co;2-n. Am J Med Genet. 1998. PMID: 9557886 Review.

5

Familial risk among patients with endometriosis.

dos Reis RM, de Sá MF, de Moura MD, Nogueira AA, Ribeiro JU, Ramos ES, Ferriani RA. dos Reis RM, et al. Among authors: ramos es. J Assist Reprod Genet. 1999 Oct;16(9):500-3. doi: 10.1023/a:1020559201968. J Assist Reprod Genet. 1999. PMID: 10530406 Free PMC article.

6

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

Sandrin-Garcia P, Macedo C, Martelli LR, Ramos ES, Guion-Almeida ML, Richieri-Costa A, Passos GA. Sandrin-Garcia P, et al. Among authors: ramos es. Clin Genet. 2002 May;61(5):380-3. doi: 10.1034/j.1399-0004.2002.610511.x. Clin Genet. 2002. PMID: 12081724

7

The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma.

Huber J, Ramos ES. Huber J, et al. Among authors: ramos es. Braz J Med Biol Res. 2006 Feb;39(2):237-41. doi: 10.1590/s0100-879x2006000200010. Epub 2006 Feb 2. Braz J Med Biol Res. 2006. PMID: 16470311 Free article.

8

Methylation pattern at the KvDMR in a child with Beckwith-Wiedemann syndrome conceived by ICSI.

Gomes MV, Gomes CC, Pinto W Jr, Ramos ES. Gomes MV, et al. Among authors: ramos es. Am J Med Genet A. 2007 Mar 15;143A(6):625-9. doi: 10.1002/ajmg.a.31628. Am J Med Genet A. 2007. PMID: 17318850 No abstract available.

9

Familial occurrence of gestational hypertensive disorders in a Brazilian population.

Araujo FM, Duarte G, Nomelini J, Lôbo RB, Ramos ES. Araujo FM, et al. Among authors: ramos es. Hypertens Pregnancy. 2007;26(3):357-62. doi: 10.1080/10641950701380974. Hypertens Pregnancy. 2007. PMID: 17710583 Free article.

10

Identification of a DNA methylation point in the promoter region of the bovine CYP21 gene.

da Silva AM, de Freitas MA, Rios AF, Renzi A, Lôbo RB, Galerani MA, Vila RA, Ramos ES. da Silva AM, et al. Among authors: ramos es. Genet Mol Res. 2011;10(3):1409-15. doi: 10.4238/vol10-3gmr1266. Genet Mol Res. 2011. PMID: 21823090 Free article.

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