Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 12

1.

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF.

Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16.

PMID:
30390570
2.

Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.

Vaqueiro AC, de Oliveira CP, Cordoba MS, Versiani BR, de Carvalho CX, Alves Rodrigues PG, de Oliveira SF, Mazzeu JF, Pic-Taylor A.

Eur J Med Genet. 2018 Jan;61(1):29-33. doi: 10.1016/j.ejmg.2017.10.008. Epub 2017 Oct 14.

3.

Partial 1q Duplications and Associated Phenotype.

Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca AC, Dos Santos MC, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF.

Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 4.

4.

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.

Montenegro LR, Silveira LF, Tusset C, de Castro M, Versiani BR, Latronico AC, Mendonca BB, Trarbach EB.

Fertil Steril. 2013 Sep;100(3):854-9. doi: 10.1016/j.fertnstert.2013.04.045. Epub 2013 May 28.

PMID:
23721716
5.

Craniofacial and dental features in kabuki syndrome patients.

do Prado Sobral S, Leite AF, Figueiredo PT, Ferrari I, Safatle HP, Córdoba MS, Versiani BR, Acevedo AC, Mestrinho HD.

Cleft Palate Craniofac J. 2013 Jul;50(4):440-7. doi: 10.1597/11-052. Epub 2011 Oct 24.

PMID:
22023252
6.

Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test.

Koenigkam-Santos M, Santos AC, Versiani BR, Diniz PR, Junior JE, de Castro M.

Neuroendocrinology. 2011;94(3):209-17. doi: 10.1159/000328437. Epub 2011 May 21.

PMID:
21606642
7.

Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging.

Koenigkam-Santos M, de Castro M, Versiani BR, Diniz PR, Santos AC.

J Neurol Sci. 2010 May 15;292(1-2):40-4. doi: 10.1016/j.jns.2010.02.010. Epub 2010 Mar 7.

PMID:
20211475
8.

Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements.

Koenigkam-Santos M, Santos AC, Borduqui T, Versiani BR, Hallak JE, Crippa JA, Castro M.

AJNR Am J Neuroradiol. 2008 Oct;29(9):1799-804. doi: 10.3174/ajnr.A1202. Epub 2008 Sep 3.

9.

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.

Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC.

J Clin Endocrinol Metab. 2008 Oct;93(10):4113-8. doi: 10.1210/jc.2008-0958. Epub 2008 Aug 5.

PMID:
18682503
10.

Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.

Versiani BR, Trarbach E, Koenigkam-Santos M, Dos Santos AC, Elias LL, Moreira AC, Latronico AC, de Castro M.

Clin Endocrinol (Oxf). 2007 Feb;66(2):173-9.

PMID:
17223984
11.

Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC.

J Clin Endocrinol Metab. 2006 Oct;91(10):4006-12. Epub 2006 Aug 1. Erratum in: J Clin Endocrinol Metab. 2008 May;93(5):2013.

PMID:
16882753
12.

Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes.

Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM.

Clin Dysmorphol. 2004 Jan;13(1):1-5.

PMID:
15127755

Supplemental Content

Loading ...
Support Center