Vianna-Morgante AM - Search Results

1

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Pereira Fdos S, et al. PLoS One. 2012;7(3):e34195. doi: 10.1371/journal.pone.0034195. Epub 2012 Mar 29. PLoS One. 2012. PMID: 22479560 Free PMC article.

2

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM. Bonaldi A, et al. Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910219

3

Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.

Antonini S, Kim CA, Sugayama SM, Vianna-Morgante AM. Antonini S, et al. Am J Med Genet. 2002 Nov 22;113(2):144-50. doi: 10.1002/ajmg.10735. Am J Med Genet. 2002. PMID: 12407704

4

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. Fonseca AC, et al. BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50. BMC Med Genet. 2013. PMID: 23648064 Free PMC article.

5

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Krepischi AC, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Krepischi AC, et al. Epilepsia. 2010 Dec;51(12):2457-60. doi: 10.1111/j.1528-1167.2010.02742.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 21204806 Free article.

6

Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena HB, Vianna-Morgante AM, Pena SD. Stofanko M, et al. PLoS One. 2013 Apr 19;8(4):e61328. doi: 10.1371/journal.pone.0061328. Print 2013. PLoS One. 2013. PMID: 23620743 Free PMC article.

7

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

Koiffmann CP, Gonzalez CH, Vianna-Morgante AM, Kim CA, Odone-Filho V, Wajntal A. Koiffmann CP, et al. Am J Med Genet. 1995 Jul 31;58(1):46-9. doi: 10.1002/ajmg.1320580110. Am J Med Genet. 1995. PMID: 7573155 Review.

8

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1912-8. doi: 10.1002/ajmg.a.31863. Am J Med Genet A. 2007. PMID: 17632770

9

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408

10

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: vianna morgante am. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

111 results

Search Page