Barbaro M - Search Results

1

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A. Stranneheim H, et al. Among authors: barbaro m. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.

2

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

3

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

Robins T, Bellanne-Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S. Robins T, et al. Among authors: barbaro m. J Mol Med (Berl). 2007 Mar;85(3):247-55. doi: 10.1007/s00109-006-0121-x. Epub 2006 Nov 21. J Mol Med (Berl). 2007. PMID: 17119906

4

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias.

Beleza-Meireles A, Barbaro M, Wedell A, Töhönen V, Nordenskjöld A. Beleza-Meireles A, et al. Among authors: barbaro m. Reprod Biol Endocrinol. 2007 Mar 7;5:8. doi: 10.1186/1477-7827-5-8. Reprod Biol Endocrinol. 2007. PMID: 17343741 Free PMC article.

5

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

6

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

7

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

8

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.

9

AGC1 deficiency associated with global cerebral hypomyelination.

Wibom R, Lasorsa FM, Töhönen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. Wibom R, et al. Among authors: barbaro m. N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. N Engl J Med. 2009. PMID: 19641205 Free article.

10

Disorders of sex development.

Barbaro M, Wedell A, Nordenström A. Barbaro M, et al. Semin Fetal Neonatal Med. 2011 Apr;16(2):119-27. doi: 10.1016/j.siny.2011.01.001. Semin Fetal Neonatal Med. 2011. PMID: 21303737 Review.

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