Melo DG - Search Results

1

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Freitas ÉL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. Freitas ÉL, et al. Among authors: melo dg. Eur J Med Genet. 2012 Nov;55(11):660-5. doi: 10.1016/j.ejmg.2012.06.015. Epub 2012 Jul 20. Eur J Med Genet. 2012. PMID: 22820457 Free article.

2

Ablepharon-macrostomia syndrome: first report of familial occurrence.

Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM. Ferraz VE, et al. Among authors: melo dg. Am J Med Genet. 2000 Oct 2;94(4):281-3. doi: 10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s. Am J Med Genet. 2000. PMID: 11038439

3

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, de Medeiros PF, Minillo RM, Melo DG, Kim CA, Doriqui MJ, Felix TM, Fock RA, Cavalcanti DP. Araujo TF, et al. Among authors: melo dg. Eur J Med Res. 2016 Aug 24;21(1):33. doi: 10.1186/s40001-016-0228-7. Eur J Med Res. 2016. PMID: 27558267 Free PMC article.

4

De novo complex chromosome rearrangement: a study of two patients.

Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM. Melo DG, et al. Genet Couns. 2004;15(3):303-10. Genet Couns. 2004. PMID: 15517822

5

Sotos syndrome (cerebral gigantism): analysis of 8 cases.

Melo DG, Acosta AX, Salles MA, Pina-Neto JM, Castro JD, Santos AC. Melo DG, et al. Arq Neuropsiquiatr. 2002 Jun;60(2-A):234-8. doi: 10.1590/s0004-282x2002000200009. Arq Neuropsiquiatr. 2002. PMID: 12068351 Free article.

6

A qualitative study about quality of life in Brazilian families with children who have severe or profound intellectual disability.

Rodrigues SA, Fontanella BJB, de Avó LRS, Germano CMR, Melo DG. Rodrigues SA, et al. Among authors: melo dg. J Appl Res Intellect Disabil. 2019 Mar;32(2):413-426. doi: 10.1111/jar.12539. Epub 2018 Oct 23. J Appl Res Intellect Disabil. 2019. PMID: 30353627

7

Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study.

Vale AR, de Avó LRDS, Pilotto RF, Germano CMR, Melo DG. Vale AR, et al. Among authors: melo dg. Am J Med Genet A. 2022 Nov;188(11):3294-3305. doi: 10.1002/ajmg.a.62914. Epub 2022 Aug 1. Am J Med Genet A. 2022. PMID: 35913016

8

Orofacial findings and dental treatment in an 8-year-old patient with trisomy 18: a case report.

de Queiroz AM, Raffaini MS, de Camargo LM, de Pina Neto JM, Melo DG, Silva RA. de Queiroz AM, et al. Among authors: melo dg. J Dent Child (Chic). 2007 Jan-Apr;74(1):67-72. J Dent Child (Chic). 2007. PMID: 18430358

9

Monozygotic twins discordant for Goldenhar syndrome.

Verona LL, Damian NG, Pavarina LP, Ferreira CH, Melo DG. Verona LL, et al. Among authors: melo dg. J Pediatr (Rio J). 2006 Jan-Feb;82(1):75-8. doi: 10.2223/JPED.1441. J Pediatr (Rio J). 2006. PMID: 16532152 Free article.

10

Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

Melo DG, de Paula PK, de Araujo Rodrigues S, da Silva de Avó LR, Germano CM, Demarzo MM. Melo DG, et al. J Community Genet. 2015 Jul;6(3):231-40. doi: 10.1007/s12687-015-0224-6. Epub 2015 Apr 18. J Community Genet. 2015. PMID: 25893505 Free PMC article.

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