Richieri-Costa A - Search Results

1

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Bertolacini CD, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Bertolacini CD, et al. Clin Genet. 2012 Jan;81(1):70-5. doi: 10.1111/j.1399-0004.2010.01606.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204792 Free PMC article.

2

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

Ribeiro LA, Murray JC, Richieri-Costa A. Ribeiro LA, et al. Am J Med Genet A. 2006 Dec 1;140(23):2584-6. doi: 10.1002/ajmg.a.31369. Am J Med Genet A. 2006. PMID: 17001668

3

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. Rahimov F, et al. Am J Med Genet A. 2006 Dec 1;140(23):2571-6. doi: 10.1002/ajmg.a.31370. Am J Med Genet A. 2006. PMID: 17096318

4

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA. Bertolacini CD, et al. Brain Dev. 2010 Mar;32(3):217-22. doi: 10.1016/j.braindev.2009.02.014. Epub 2009 Apr 26. Brain Dev. 2010. PMID: 19398181

5

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.

Ribeiro-Bicudo LA, Quiezi RG, Guion-Almeida ML, Legnaro C, Richieri-Costa A. Ribeiro-Bicudo LA, et al. Am J Med Genet A. 2012 May;158A(5):1233-5. doi: 10.1002/ajmg.a.35305. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22496059 No abstract available.

6

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.

7

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Hong S, et al. Hum Mol Genet. 2016 May 15;25(10):1912-1922. doi: 10.1093/hmg/ddw064. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931467 Free PMC article.

8

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.

Richieri-Costa A, Vendramini-Pittoli S, Kokitsu-Nakata NM, Zechi-Ceide RM, Alvarez CW, Ribeiro-Bicudo LA. Richieri-Costa A, et al. J Pediatr Genet. 2017 Jun;6(2):103-106. doi: 10.1055/s-0036-1588028. Epub 2016 Sep 14. J Pediatr Genet. 2017. PMID: 28496998 Free PMC article.

9

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC; NISC Comparative Sequencing Program; Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Ribeiro-Bicudo LA, Muenke M. Roessler E, et al. Among authors: richieri costa a. Hum Mutat. 2018 Oct;39(10):1416-1427. doi: 10.1002/humu.23590. Epub 2018 Jul 26. Hum Mutat. 2018. PMID: 29992659

10

Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome.

Ferreira de Lima RL, Moretti-Ferreira D, Richieri-Costa A, Murray JC. Ferreira de Lima RL, et al. Am J Med Genet A. 2003 Sep 15;122A(1):56-8. doi: 10.1002/ajmg.a.20270. Am J Med Genet A. 2003. PMID: 12949973

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