Ribeiro-Bicudo LA - Search Results

1

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. Among authors: ribeiro bicudo la. 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.

2

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: ribeiro bicudo la. Hum Mutat. 2018 Oct;39(10):1416-1427. doi: 10.1002/humu.23590. Epub 2018 Jul 26. Hum Mutat. 2018. PMID: 29992659

3

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.

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

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Gamba BF, et al. Among authors: ribeiro bicudo la. Mol Genet Genomics. 2015 Dec;290(6):2213-6. doi: 10.1007/s00438-015-1072-0. Epub 2015 Jun 4. Mol Genet Genomics. 2015. PMID: 26040972

7

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. Among authors: ribeiro bicudo la. 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.

8

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Vendramini-Pittoli S, Candido-Souza RM, Quiezi RG, Zechi-Ceide RM, Kokitsu-Nakata NM, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Vendramini-Pittoli S, et al. Among authors: ribeiro bicudo la. J Pediatr Genet. 2020 Dec;9(4):258-262. doi: 10.1055/s-0039-3402047. Epub 2020 Jan 3. J Pediatr Genet. 2020. PMID: 32765930 Free PMC article.

9

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Krepischi Santos AC, Ribeiro-Bicudo L, Richieri-Costa A. Gamba BF, et al. Mol Syndromol. 2016 Nov;7(6):344-348. doi: 10.1159/000450971. Epub 2016 Oct 26. Mol Syndromol. 2016. PMID: 27920638 Free PMC article.

10

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA. Gamba BF, et al. Among authors: ribeiro bicudo la. Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22. Mol Syndromol. 2015. PMID: 25852446 Free PMC article.

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