Search Page
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
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.
Eur J Hum Genet. 2012.
PMID: 21897445
Free PMC article.
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.
Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D.
Gamba BF, et al.
Genet Mol Res. 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17.
Genet Mol Res. 2011.
PMID: 22057962
Free article.
Clinical Trial.
Item in Clipboard
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.
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
Item in Clipboard
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.
Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.
Mol Syndromol. 2015.
PMID: 25852446
Free PMC article.
Item in Clipboard
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.
Item in Clipboard
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.
Ribeiro-Bicudo LA, de Campos Legnaro C, Gamba BF, Candido Sandri RM, Richieri-Costa A.
Ribeiro-Bicudo LA, et al. Among authors: gamba bf.
Mol Syndromol. 2013 Sep;4(6):292-6. doi: 10.1159/000354095. Epub 2013 Aug 17.
Mol Syndromol. 2013.
PMID: 24167465
Free PMC article.
Item in Clipboard
TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
da Silva PFF, Goveia RM, Teixeira TB, Gamba BF, de Lima AP, Rogatto SR, Silveira-Lacerda EP.
da Silva PFF, et al. Among authors: gamba bf.
Biomolecules. 2022 Apr 27;12(5):640. doi: 10.3390/biom12050640.
Biomolecules. 2022.
PMID: 35625568
Free PMC article.
Item in Clipboard
Cite
Cite