Martelli LR - Search Results

1

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: martelli lr. Clin Genet. 2002 May;61(5):380-3. doi: 10.1034/j.1399-0004.2002.610511.x. Clin Genet. 2002. PMID: 12081724

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

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. 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.

4

Down syndrome and precocious menopause.

Bartmann AK, Araújo FM, Iannetta O, Paneto JC, Martelli L, Ramos ES. Bartmann AK, et al. J Assist Reprod Genet. 2005 Mar;22(3):129-31. doi: 10.1007/s10815-005-4878-6. J Assist Reprod Genet. 2005. PMID: 16018243 Free PMC article.

5

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Mazzeu JF, et al. Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592. Am J Med Genet A. 2007. PMID: 17256787

6

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA. Sandrin-Garcia P, et al. Among authors: martelli lr. Mol Cell Biochem. 2007 Sep;303(1-2):9-17. doi: 10.1007/s11010-007-9450-5. Epub 2007 Apr 11. Mol Cell Biochem. 2007. PMID: 17426930

7

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. 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.

8

Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Grzesiuk JD, Pereira CS, Grangeiro CH, Picanço-Albuquerque CG, Oliveira-Gennaro FG, Machado FB, Medina-Acosta E, Ramos ES, Yoshimoto M, Martelli L. Grzesiuk JD, et al. Mol Cytogenet. 2016 Jun 15;9:45. doi: 10.1186/s13039-016-0249-5. eCollection 2016. Mol Cytogenet. 2016. PMID: 27313662 Free PMC article.

9

Erratum to: Familial chromosomal translocation X; 22 associated with infertility and recurrent X mosaicism.

Grzesiuk JD, Pereira CS, Grangeiro CH, Picanço-Albuquerque CG, Oliveira-Gennaro FG, Machado FB, Medina-Acosta E, Ramos ES, Yoshimoto M, Martelli L. Grzesiuk JD, et al. Mol Cytogenet. 2016 Jul 5;9:53. doi: 10.1186/s13039-016-0262-8. eCollection 2016. Mol Cytogenet. 2016. PMID: 27382416 Free PMC article.

10

The polymorphism in MUC1 gene in Nelore cattle.

de Souza FR, Dentillo DB, Meola J, Biase FH, Andréa MV, Vozzi PA, Lôbo RB, Martelli LR. de Souza FR, et al. Among authors: martelli lr. J Anim Breed Genet. 2007 Feb;124(1):42-6. doi: 10.1111/j.1439-0388.2007.00628.x. J Anim Breed Genet. 2007. PMID: 17302961

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