Barbaro M - Search Results

1

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

Zhang ZF, Ruivenkamp C, Staaf J, Zhu H, Barbaro M, Petillo D, Khoo SK, Borg A, Fan YS, Schoumans J. Zhang ZF, et al. Among authors: barbaro m. Eur J Hum Genet. 2008 Jul;16(7):786-92. doi: 10.1038/ejhg.2008.14. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285835

2

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. Schoumans J, et al. Among authors: barbaro m. Eur J Hum Genet. 2007 Feb;15(2):143-9. doi: 10.1038/sj.ejhg.5201737. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106445

3

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Barbaro M, et al. J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. doi: 10.1210/jc.2007-0505. Epub 2007 May 15. J Clin Endocrinol Metab. 2007. PMID: 17504899

4

Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma.

Lee JJ, Au AY, Foukakis T, Barbaro M, Kiss N, Clifton-Bligh R, Staaf J, Borg A, Delbridge L, Robinson BG, Wallin G, Höög A, Larsson C. Lee JJ, et al. Among authors: barbaro m. Endocr Relat Cancer. 2008 Sep;15(3):801-15. doi: 10.1677/ERC-08-0018. Endocr Relat Cancer. 2008. PMID: 18753363

5

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A. Barbaro M, et al. Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6. Eur J Hum Genet. 2009. PMID: 19417767 Free PMC article.

6

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

Barbaro M, Oscarson M, Almskog I, Hamberg H, Wedell A. Barbaro M, et al. Clin Endocrinol (Oxf). 2007 Jun;66(6):822-6. doi: 10.1111/j.1365-2265.2007.02819.x. Epub 2007 Apr 4. Clin Endocrinol (Oxf). 2007. PMID: 17408421

7

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.

Barbaro M, Cook J, Lagerstedt-Robinson K, Wedell A. Barbaro M, et al. Int J Endocrinol. 2012;2012:504904. doi: 10.1155/2012/504904. Epub 2012 Feb 28. Int J Endocrinol. 2012. PMID: 22518125 Free PMC article.

8

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.

Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, Oscarson M. Barbaro M, et al. Clin Genet. 2008 May;73(5):453-64. doi: 10.1111/j.1399-0004.2008.00980.x. Epub 2008 Apr 2. Clin Genet. 2008. PMID: 18384427

9

Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.

Robins T, Barbaro M, Lajic S, Wedell A. Robins T, et al. Among authors: barbaro m. J Clin Endocrinol Metab. 2005 Apr;90(4):2148-53. doi: 10.1210/jc.2004-1937. Epub 2004 Dec 28. J Clin Endocrinol Metab. 2005. PMID: 15623806

10

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.

Barbaro M, Bens S, Haake A, Peter M, Brämswig J, Holterhus PM, Lopez-Siguero JP, Menken U, Mix M, Sippell WG, Wedell A, Riepe FG. Barbaro M, et al. Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23. Horm Res Paediatr. 2012. PMID: 22456342 Free article.

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