Brunoni D - Search Results

1

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. Among authors: brunoni d. 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.

2

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Among authors: brunoni d. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

3

Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.

Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR. Perez AB, et al. Among authors: brunoni d. Hum Mutat. 1999;13(1):84. doi: 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU15>3.0.CO;2-U. Hum Mutat. 1999. PMID: 10189222

4

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: brunoni d. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.

5

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Mazzeu JF, et al. Among authors: brunoni d. Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592. Am J Med Genet A. 2007. PMID: 17256787

6

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study.

Vargas FR, Schuler-Faccini L, Brunoni D, Kim C, Meloni VF, Sugayama SM, Albano L, Llerena JC Jr, Almeida JC, Duarte A, Cavalcanti DP, Goloni-Bertollo E, Conte A, Koren G, Addis A. Vargas FR, et al. Among authors: brunoni d. Am J Med Genet. 2000 Dec 11;95(4):302-6. doi: 10.1002/1096-8628(20001211)95:4<302::aid-ajmg2>3.0.co;2-b. Am J Med Genet. 2000. PMID: 11186881

7

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

Richieri-Costa A, Brunoni D, Laredo Filho J, Kasinski S. Richieri-Costa A, et al. Among authors: brunoni d. Am J Med Genet. 1987 Dec;28(4):971-80. doi: 10.1002/ajmg.1320280424. Am J Med Genet. 1987. PMID: 3688036

8

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication.

Nadal M, Vigo CG, Melaragno MI, Andrade JA, Alonso LG, Brunoni D, Pritchard M, Estivill X. Nadal M, et al. Among authors: brunoni d. J Med Genet. 2001 Jan;38(1):73-6. doi: 10.1136/jmg.38.1.73. J Med Genet. 2001. PMID: 11334012 Free PMC article. No abstract available.

9

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. Marcelino J, et al. Among authors: brunoni d. Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496. Nat Genet. 1999. PMID: 10545950

10

Tetraploid/diploid mosaicism: case report and review of the literature.

Alonso L, Melaragno I, Bortolai A, Takeno S, Brunoni D. Alonso L, et al. Among authors: brunoni d. Ann Genet. 2002 Oct-Dec;45(4):177-80. doi: 10.1016/s0003-3995(02)01137-1. Ann Genet. 2002. PMID: 12668163

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