Passos-Bueno MR - Search Results

1

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B. Schaefer E, et al. Genet Med. 2014 Sep;16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6. Genet Med. 2014. PMID: 24603435 Free article.

2

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.

Vainzof M, Pavanello RC, Pavanello-Filho I, Rapaport D, Passos-Bueno MR, Zubrzycka-Gaarn EE, Bulman DE, Zatz M. Vainzof M, et al. Am J Med Genet. 1991 Apr 1;39(1):38-41. doi: 10.1002/ajmg.1320390110. Am J Med Genet. 1991. PMID: 1867262

3

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M. Passos-Bueno MR, et al. Am J Med Genet. 1991 Jan;38(1):140-6. doi: 10.1002/ajmg.1320380130. Am J Med Genet. 1991. PMID: 2012126

4

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.

Zatz M, Passos-Bueno MR, Rapaport D. Zatz M, et al. Am J Med Genet. 1989 Mar;32(3):407-10. doi: 10.1002/ajmg.1320320328. Am J Med Genet. 1989. PMID: 2658592

5

Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.

Passos-Bueno MR, Marie SK, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M. Passos-Bueno MR, et al. Am J Med Genet. 1994 Aug 15;52(2):170-3. doi: 10.1002/ajmg.1320520209. Am J Med Genet. 1994. PMID: 7802003

6

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M. Passos-Bueno MR, et al. J Med Genet. 1996 Feb;33(2):97-102. doi: 10.1136/jmg.33.2.97. J Med Genet. 1996. PMID: 8929943 Free PMC article.

7

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

8

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. Iughetti P, et al. Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146471

9

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.

Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA. Splendore A, et al. Am J Med Genet. 2002 Aug 15;111(3):324-7. doi: 10.1002/ajmg.10567. Am J Med Genet. 2002. PMID: 12210332 No abstract available.

10

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR. Masotti C, et al. BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136. BMC Med Genet. 2009. PMID: 20003452 Free PMC article.

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