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Items: 1 to 20 of 25


Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Barbaro M, Ohlsson A, Borte S, Jonsson S, Zetterström RH, King J, Winiarski J, von Döbeln U, Hammarström L.

J Clin Immunol. 2017 Jan;37(1):51-60. doi: 10.1007/s10875-016-0347-5. Epub 2016 Nov 21.


Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.

de Paula Michelatto D, Karlsson L, Lusa AL, Silva CD, Östberg LJ, Persson B, Guerra-Júnior G, de Lemos-Marini SH, Barbaro M, de Mello MP, Lajic S.

Int J Endocrinol. 2016;2016:4209670. Epub 2016 Sep 19.


Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

Ygberg S, Naess K, Eriksson M, Stranneheim H, Lesko N, Barbaro M, Wibom R, Wang C, Wedell A, Wickström R.

Eur J Paediatr Neurol. 2016 May;20(3):457-61. doi: 10.1016/j.ejpn.2016.01.009. Epub 2016 Feb 4.


Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A.

J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.


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.

BMC Genomics. 2014 Dec 11;15:1090. doi: 10.1186/1471-2164-15-1090.


In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.

Barbaro M, Soardi FC, Östberg LJ, Persson B, de Mello MP, Wedell A, Lajic S.

Clin Endocrinol (Oxf). 2015 Jan;82(1):37-44. doi: 10.1111/cen.12526. Epub 2014 Jul 7.


Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.

Norling A, Lindén Hirschberg A, Iwarsson E, Persson B, Wedell A, Barbaro M.

Eur J Med Genet. 2013 Dec;56(12):661-8. doi: 10.1016/j.ejmg.2013.09.003. Epub 2013 Sep 18.


Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N.

JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20.


CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development.

Norling A, Hirschberg AL, Iwarsson E, Wedell A, Barbaro M.

Fertil Steril. 2013 Mar 1;99(3):819-826.e3. doi: 10.1016/j.fertnstert.2012.11.016. Epub 2012 Dec 7.


Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion.

Neira VA, Córdova-Fletes C, Grondin Y, Ramirez-Velazco A, Figuera LE, Ortíz-López R, Barbaro M.

Am J Med Genet A. 2012 Jun;158A(6):1498-502. doi: 10.1002/ajmg.a.35344. Epub 2012 May 11. No abstract available.


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.

Int J Endocrinol. 2012;2012:504904. doi: 10.1155/2012/504904. Epub 2012 Feb 28.


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.

Horm Res Paediatr. 2012;77(2):100-7. doi: 10.1159/000336344. Epub 2012 Mar 23.


Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.

Barbaro M, Soardi FC, de Mello MP, Wedell A, Lajic S.

Clin Endocrinol (Oxf). 2012 May;76(5):766-8. doi: 10.1111/j.1365-2265.2011.04275.x. No abstract available.


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.

N Engl J Med. 2009 Jul 30;361(5):489-95. doi: 10.1056/NEJMoa0900591. Erratum in: N Engl J Med. 2009 Aug 13;361(7):731.


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.

Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6.


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.

Endocr Relat Cancer. 2008 Sep;15(3):801-15. doi: 10.1677/ERC-08-0018.


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.

Eur J Hum Genet. 2008 Jul;16(7):786-92. doi: 10.1038/ejhg.2008.14. Epub 2008 Feb 20.


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.

J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. Epub 2007 May 15.


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.

Clin Endocrinol (Oxf). 2007 Jun;66(6):822-6. Epub 2007 Apr 4.


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