PubMed

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?

Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM.

Am J Med Genet A. 2009 Nov 16. [Epub ahead of print]PMID: 19921636 [PubMed - as supplied by publisher]Related articles

Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.

Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S.

Dev Biol. 2009 Nov 3. [Epub ahead of print]PMID: 19895802 [PubMed - as supplied by publisher]Related articles

Syndromes of the first and second pharyngeal arches: A review.

Passos-Bueno MR, Ornelas CC, Fanganiello RD.

Am J Med Genet A. 2009 Aug;149A(8):1853-9. Review.PMID: 19610085 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR.

Am J Med Genet A. 2009 Jun;149A(6):1319-22. No abstract available. PMID: 19449419 [PubMed - indexed for MEDLINE]Related articles

Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, Gava E, de Oliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR.

Mol Vis. 2009;15:801-9. Epub 2009 Apr 23.PMID: 19390655 [PubMed - indexed for MEDLINE]Related articlesFree article

Mesenchymal Stem Cells Derived from Canine Umbilical Cord Vein - A Novel Source for Cell Therapy Studies.

Zucconi E, Vieira NM, Bueno DF, Secco M, Jazedje T, Ambrosio CE, Passos-Bueno MR, Miglino MA, Zatz M.

Stem Cells Dev. 2009 Mar 16. [Epub ahead of print]PMID: 19290805 [PubMed - as supplied by publisher]Related articles

HTR1B and HTR2C in autism spectrum disorders in Brazilian families.

Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcão VL, Takahashi VN, Moreira ES, Furia-Silva M, Ros-Melo AM, Dourado F, Matioli SR, Otto P, Passos-Bueno MR.

Brain Res. 2009 Jan 23;1250:14-9. Epub 2008 Nov 12. Erratum in: Brain Res. 2009 Apr 6;1264:127. Matioli, R [corrected to Matioli, SR]. PMID: 19038234 [PubMed - indexed for MEDLINE]Related articles

New Source of Muscle-Derived Stem Cells with Potential for Alveolar Bone Reconstruction in Cleft Lip and/or Palate Patients.

Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR.

Tissue Eng Part A. 2009 Feb;15(2):427-35.PMID: 18816169 [PubMed - in process]Related articles

Stem cell proliferation under low intensity laser irradiation: a preliminary study.

Eduardo Fde P, Bueno DF, de Freitas PM, Marques MM, Passos-Bueno MR, Eduardo Cde P, Zatz M.

Lasers Surg Med. 2008 Aug;40(6):433-8.PMID: 18649378 [PubMed - indexed for MEDLINE]Related articles

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.

Yeh E, Kimura L, Errera FI, Angeli CB, Mingroni-Netto RC, Silva ME, Canani LH, Passos-Bueno MR.

Braz J Med Biol Res. 2008 Jun;41(6):468-72.PMID: 18622492 [PubMed - indexed for MEDLINE]Related articlesFree article

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.

J Med Genet. 2008 Aug;45(8):539-43. Epub 2008 Jun 11.PMID: 18550699 [PubMed - indexed for MEDLINE]Related articles

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR.

Clin Dysmorphol. 2008 Jul;17(3):225-6. No abstract available. PMID: 18541977 [PubMed - indexed for MEDLINE]Related articles

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR.

J Med Genet. 2008 Jul;45(7):447-50. Epub 2008 May 2.PMID: 18456720 [PubMed - indexed for MEDLINE]Related articles

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E.

Front Oral Biol. 2008;12:107-43. Review.PMID: 18391498 [PubMed - indexed for MEDLINE]Related articles

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients.

Errera FI, Canani LH, Yeh E, Kague E, Armelin-Corrêa LM, Suzuki OT, Tschiedel B, Silva ME, Sertié AL, Passos-Bueno MR.

An Acad Bras Cienc. 2008 Mar;80(1):167-77.PMID: 18345385 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR.

Eur J Med Genet. 2008 May-Jun;51(3):183-96. Epub 2008 Jan 9.PMID: 18276201 [PubMed - indexed for MEDLINE]Related articles

Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.

de Mendonça Costa A, Bueno DF, Martins MT, Kerkis I, Kerkis A, Fanganiello RD, Cerruti H, Alonso N, Passos-Bueno MR.

J Craniofac Surg. 2008 Jan;19(1):204-10.PMID: 18216690 [PubMed - indexed for MEDLINE]Related articles

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR.

Eur J Hum Genet. 2008 Feb;16(2):145-52. Epub 2007 Nov 14.PMID: 18000524 [PubMed - indexed for MEDLINE]Related articlesFree article

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR.

Am J Med Genet A. 2007 Aug 15;143A(16):1912-8.PMID: 17632770 [PubMed - indexed for MEDLINE]Related articles

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.

Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR.

Mol Med. 2007 Jul-Aug;13(7-8):422-42.PMID: 17622301 [PubMed - indexed for MEDLINE]Related articlesFree article

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Zechi-Ceide RM, Guion-Almeida ML, de Oliveira Rodini ES, Jesus Oliveira NA, Passos-Bueno MR.

Clin Dysmorphol. 2007 Jul;16(3):163-6.PMID: 17551329 [PubMed - indexed for MEDLINE]Related articles

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A.

Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. No abstract available. PMID: 17546652 [PubMed - indexed for MEDLINE]Related articles

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO.

Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18. Erratum in: Am J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova, Dragana]. PMID: 17503333 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry.

Errera FI, Canani LH, Silva ME, Yeh E, Takahashi W, Santos KG, Souto KE, Tschiedel B, Roisenberg I, Gross JL, Passos-Bueno MR.

Diabetes Care. 2007 Feb;30(2):275-9.PMID: 17259494 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Cytogenet Genome Res. 2006;115(3-4):254-61.PMID: 17124408 [PubMed - indexed for MEDLINE]Related articles

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

Oliveira NA, Alonso LG, Fanganiello RD, Passos-Bueno MR.

Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):629-33.PMID: 16955501 [PubMed - indexed for MEDLINE]Related articles

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients.

Errera FI, Silva ME, Yeh E, Maranduba CM, Folco B, Takahashi W, Pereira AC, Krieger JE, Passos-Bueno MR.

Braz J Med Biol Res. 2006 Jul;39(7):883-8.PMID: 16862278 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in collagen 18A1 and their relevance to the human phenotype.

Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR.

An Acad Bras Cienc. 2006 Mar;78(1):123-31. Epub 2006 Mar 8. Review.PMID: 16532212 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR.

Cleft Palate Craniofac J. 2006 Mar;43(2):148-51.PMID: 16526918 [PubMed - indexed for MEDLINE]Related articles

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.

Neurology. 2005 Dec 13;65(11):1832-3.PMID: 16344536 [PubMed - indexed for MEDLINE]Related articles

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR.

Am J Med Genet A. 2005 Dec 15;139(3):221-6.PMID: 16283679 [PubMed - indexed for MEDLINE]Related articles

Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes.

Armelin-Correa LM, Lin CJ, Barbosa A, Bagatini K, Winnischofer SM, Sogayar MC, Passos-Bueno MR.

Matrix Biol. 2005 Dec;24(8):550-9. Epub 2005 Oct 17.PMID: 16229994 [PubMed - indexed for MEDLINE]Related articles

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR.

Gene. 2005 Oct 10;359:44-52.PMID: 16102917 [PubMed - indexed for MEDLINE]Related articles

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertié AL, Passos-Bueno MR, Visser TJ.

J Med Genet. 2006 May;43(5):457-60. Epub 2005 Jun 24.PMID: 15980113 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR.

Clin Genet. 2005 Jun;67(6):503-10.PMID: 15857417 [PubMed - indexed for MEDLINE]Related articles

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR.

Hum Mutat. 2005 May;25(5):429-34.PMID: 15832313 [PubMed - indexed for MEDLINE]Related articles

How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

Suzuki OT, Bagatini K, Sertié AL, Passos-Bueno MR.

Hum Mutat. 2005 Mar;25(3):314-5; author reply 316. No abstract available. PMID: 15714516 [PubMed - indexed for MEDLINE]Related articles

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.

Eur J Hum Genet. 2004 Dec;12(12):1033-40. Erratum in: Eur J Hum Genet. 2005 Feb;13(2):264. PMID: 15367920 [PubMed - indexed for MEDLINE]Related articlesFree article

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.

Passos-Bueno MR, Gaspar DA, Kamiya T, Tescarollo G, Rabanéa D, Richieri-Costa A, Alonso N, Araújo B.

Cleft Palate Craniofac J. 2004 Jul;41(4):387-91.PMID: 15222785 [PubMed - indexed for MEDLINE]Related articles

A transcript finishing initiative for closing gaps in the human transcriptome.

Sogayar MC, Camargo AA, Bettoni F, Carraro DM, Pires LC, Parmigiani RB, Ferreira EN, de Sá Moreira E, do Rosário D de O Latorre M, Simpson AJ, Cruz LO, Degaki TL, Festa F, Massirer KB, Sogayar MC, Filho FC, Camargo LP, Cunha MA, De Souza SJ, Faria M Jr, Giuliatti S, Kopp L, de Oliveira PS, Paiva PB, Pereira AA, Pinheiro DG, Puga RD, S de Souza JE, Albuquerque DM, Andrade LE, Baia GS, Briones MR, Cavaleiro-Luna AM, Cerutti JM, Costa FF, Costanzi-Strauss E, Espreafico EM, Ferrasi AC, Ferro ES, Fortes MA, Furchi JR, Giannella-Neto D, Goldman GH, Goldman MH, Gruber A, Guimarães GS, Hackel C, Henrique-Silva F, Kimura ET, Leoni SG, Macedo C, Malnic B, Manzini B CV, Marie SK, Martinez-Rossi NM, Menossi M, Miracca EC, Nagai MA, Nobrega FG, Nobrega MP, Oba-Shinjo SM, Oliveira MK, Orabona GM, Otsuka AY, Paço-Larson ML, Paixão BM, Pandolfi JR, Pardini MI, Passos Bueno MR, Passos GA, Pesquero JB, Pessoa JG, Rahal P, Rainho CA, Reis CP, Ricca TI, Rodrigues V, Rogatto SR, Romano CM, Romeiro JG, Rossi A, Sá RG, Sales MM, Sant'Anna SC, Santarosa PL, Segato F, Silva WA Jr, Silva ID, Silva NP, Soares-Costa A, Sonati MF, Strauss BE, Tajara EH, Valentini SR, Villanova FE, Ward LS, Zanette DL; Ludwig-FAPESP Transcript Finishing Initiative.

Genome Res. 2004 Jul;14(7):1413-23. Epub 2004 Jun 14.PMID: 15197164 [PubMed - indexed for MEDLINE]Related articlesFree article

Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.

Zorick TS, Kleimann S, Sertié A, Zatz M, Rosenberg S, Passos-Bueno MR.

Am J Med Genet A. 2004 Jun 15;127A(3):321-3. No abstract available. PMID: 15150789 [PubMed - indexed for MEDLINE]Related articles

Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.

Gaspar DA, Matioli SR, de Cássia Pavanello R, Araújo BC, Alonso N, Wyszynski D, Passos-Bueno MR.

Eur J Hum Genet. 2004 Jul;12(7):521-6.PMID: 15054400 [PubMed - indexed for MEDLINE]Related articlesFree article

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

Maranduba CM, Sá Moreira E, Müller Orabona G, Pavanello RC, Vianna-Morgante AM, Passos-Bueno MR.

Am J Med Genet A. 2004 Feb 1;124A(4):413-5. No abstract available. PMID: 14735593 [PubMed - indexed for MEDLINE]Related articles

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).

Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M.

Neuromuscul Disord. 2004 Jan;14(1):33-8.PMID: 14659410 [PubMed - indexed for MEDLINE]Related articles

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

Splendore A, Jabs EW, Félix TM, Passos-Bueno MR.

Eur J Hum Genet. 2003 Sep;11(9):718-22.PMID: 12939661 [PubMed - indexed for MEDLINE]Related articlesFree article

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Muñoz H, Maranduba CM, Passos-Bueno MR.

Am J Med Genet A. 2003 Aug 15;121A(1):41-6.PMID: 12900900 [PubMed - indexed for MEDLINE]Related articles

Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.

Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S.

Am J Med Genet A. 2003 May 15;119A(1):15-9.PMID: 12707952 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Moreira ES, Vainzof M, Suzuki OT, Pavanello RC, Zatz M, Passos-Bueno MR.

J Med Genet. 2003 Feb;40(2):E12. No abstract available. PMID: 12566530 [PubMed - indexed for MEDLINE]Related articlesFree article

Immunological methods for the analysis of protein expression in neuromuscular diseases.

Vainzof M, Passos-Bueno MR, Zatz M.

Methods Mol Biol. 2003;217:355-78. No abstract available. PMID: 12491947 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.

Starling A, Rocco P, Passos-Bueno MR, Hazan J, Marie SK, Zatz M.

J Med Genet. 2002 Dec;39(12):e77. No abstract available. PMID: 12471215 [PubMed - indexed for MEDLINE]Related articlesFree article