Mingroni-Netto RC - Search Results

1

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

Abreu-Silva RS, Batissoco AC, Lezirovitz K, Romanos J, Rincon D, Auricchio MT, Otto PA, Mingroni-Netto RC. Abreu-Silva RS, et al. Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. doi: 10.1016/j.bbrc.2006.03.049. Epub 2006 Mar 20. Biochem Biophys Res Commun. 2006. PMID: 16574076

2

FRAXF in a patient with chromosome 8 duplication.

Vianna-Morgante AM, Mingroni-Netto RC, Barbosa AC, Otto PA, Rosenberg C. Vianna-Morgante AM, et al. J Med Genet. 1996 Jul;33(7):611-4. doi: 10.1136/jmg.33.7.611. J Med Genet. 1996. PMID: 8818952 Free PMC article.

3

Polymorphic Alu insertions in six Brazilian African-derived populations.

Cotrim NH, Auricchio MT, Vicente JP, Otto PA, Mingroni-Netto RC. Cotrim NH, et al. Am J Hum Biol. 2004 May-Jun;16(3):264-77. doi: 10.1002/ajhb.20024. Am J Hum Biol. 2004. PMID: 15101052

4

Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.

Abreu-Silva RS, Lezirovitz K, Braga MC, Spinelli M, Pirana S, Della-Rosa VA, Otto PA, Mingroni-Netto RC. Abreu-Silva RS, et al. Braz J Med Biol Res. 2006 Feb;39(2):219-26. doi: 10.1590/s0100-879x2006000200008. Epub 2006 Feb 2. Braz J Med Biol Res. 2006. PMID: 16470309 Free article.

5

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.

Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. Cheroki C, et al. Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254. Am J Med Genet A. 2006. PMID: 16691591 No abstract available.

6

Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?

Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC. Lezirovitz K, et al. J Hum Genet. 2006;51(8):716-720. doi: 10.1007/s10038-006-0003-7. Epub 2006 Jul 26. J Hum Genet. 2006. PMID: 16868655

7

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408

8

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho E Silva FL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC. Lezirovitz K, et al. Eur J Hum Genet. 2008 Jan;16(1):89-96. doi: 10.1038/sj.ejhg.5201917. Epub 2007 Sep 12. Eur J Hum Genet. 2008. PMID: 17851452

9

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

Lezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. Lezirovitz K, et al. Hum Genet. 2008 Jul;123(6):625-31. doi: 10.1007/s00439-008-0515-7. Epub 2008 May 21. Hum Genet. 2008. PMID: 18493797

10

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. Santos SC, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580. Am J Med Genet A. 2008. PMID: 19012338

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