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Maria Rita Passos-Bueno
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85
Zatz, Mayana
63
Vainzof, Mariz
28
Pavanello, Rita
22
Marie, Suely
18
Sertié, Andréa
17
Moreira, Eloisa
11
Cerqueira, Antonia
10
Suzuki, Oscar
10
Alonso, Luis
9
Alonso, Nivaldo
8
Jehee, Fernanda Sarquis
7
Iughetti, Paula
7
Kok, Fernando
7
Bakker, Egbert
7
Splendore, Alessandra
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All Publications
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2009: Passos-Bueno Maria Rita; Ornelas Camila C; Fanganiello Roberto D
Syndromes of the first and second pharyngeal arches: A review.
American journal of medical genetics. Part A 2009;149A(8):1853-9.
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2009: Jehee Fernanda Sarquis; Burin Beatriz A; Rocha Kátia M; Zechi-Ceide Roseli; Bueno Daniela F; Brito Luciano; Souza Josiane; Leal Gabriela Ferraz; Richieri-Costa Antonio; Alonso Nivaldo; Otto Paulo A; Passos-Bueno Maria Rita
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
American journal of medical genetics. Part A 2009;149A(6):1319-22.
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2009: Bueno Daniela Franco; Kerkis Irina; Costa André Mendonça; Martins Marília T; Kobayashi Gerson Shigeru; Zucconi Eder; Fanganiello Roberto Dalto; Salles Felipe T; Almeida Ana Beatriz; do Amaral Cássio Eduardo Raposo; Alonso Nivaldo; Passos-Bueno Maria Rita
New Source of Muscle-Derived Stem Cells with Potential for Alveolar Bone Reconstruction in Cleft Lip and/or Palate Patients.
Tissue engineering. Part A 2009;15(2):427-35.
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2009: Orabona G M; Griesi-Oliveira K; Vadasz E; Bulcão V L S; Takahashi V N V O; Moreira E S; Furia-Silva M; Ros-Melo A M S; Dourado F; Matioli S R; Otto P; Passos-Bueno M R
HTR1B and HTR2C in autism spectrum disorders in Brazilian families.
Brain research 2009;1250():14-9.
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2009: Suzuki Oscar; Kague Erika; Bagatini Kelly; Tu Hongmin; Heljasvaara Ritva; Carvalhaes Lorenza; Gava Elisandra; de Oliveira Gisele; Godoi Paulo; Oliva Glaucius; Kitten Gregory; Pihlajaniemi Taina; Passos-Bueno Maria-Rita
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Molecular vision 2009;15():801-9.
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2008: Eduardo Fernanda de P; Bueno Daniela F; de Freitas Patricia M; Marques Márcia Martins; Passos-Bueno Maria Rita; Eduardo Carlos de P; Zatz Mayana
Stem cell proliferation under low intensity laser irradiation: a preliminary study.
Lasers in surgery and medicine 2008;40(6):433-8.
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2008: Zechi-Ceide Roseli Maria; Jesus Oliveira Nélio Alessando; Guion-Almeida Maria Leine; Antunes Luís Fernando B B; Richieri-Costa Antonio; Passos-Bueno Maria Rita Santos
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
Clinical dysmorphology 2008;17(3):225-6.
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2008: Jehee F S; Krepischi-Santos A C V; Rocha K M; Cavalcanti D P; Kim C A; Bertola D R; Alonso L G; D'Angelo C S; Mazzeu J F; Froyen G; Lugtenberg D; Vianna-Morgante A M; Rosenberg C; Passos-Bueno M R
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.
Journal of medical genetics 2008;45(7):447-50.
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2008: Yeh E; Kimura L; Errera F I V; Angeli C B; Mingroni-Netto R C; Silva M E R; Canani L H S; Passos-Bueno M R
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.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2008;41(6):468-72.
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2008: Zechi-Ceide Roseli Maria; Jesus Oliveira Nélio Alessando; Guion-Almeida Maria Leine; Antunes Luís Fernando B B; Richieri-Costa Antonio; Passos-Bueno Maria Rita Santos
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.
European journal of medical genetics 2008;51(3):183-96.
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2008: Errera Flavia I V; Canani Luís H; Yeh Erika; Kague Erika; Armelin-Corrêa Lucia M; Suzuki Oscar T; Tschiedel Balduíno; Silva Maria Elizabeth R; Sertié Andréa L; Passos-Bueno Maria Rita
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.
Anais da Academia Brasileira de Ciências 2008;80(1):167-77.
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2008: Masotti Cibele; Oliveira Karina G; Poerner Fabiana; Splendore Alessandra; Souza Josiane; Freitas Renato da Silva; Zechi-Ceide Roseli; Guion-Almeida Maria Leine; Passos-Bueno Maria Rita
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
European journal of human genetics : EJHG 2008;16(2):145-52.
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2008: de Mendonça Costa André; Bueno Daniela F; Martins Marília T; Kerkis Irina; Kerkis Alexandre; Fanganiello Roberto D; Cerruti Humberto; Alonso Nivaldo; Passos-Bueno Maria Rita
Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells.
The Journal of craniofacial surgery 2008;19(1):204-10.
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2008: Passos-Bueno Maria Rita; Serti Eacute Andr Eacute A L; Jehee Fernanda S; Fanganiello Roberto; Yeh Erika
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Frontiers of oral biology 2008;12():107-43.
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2007: Jehee Fernanda S; Bertola Débora R; Yelavarthi Krishna K; Krepischi-Santos Ana C V; Kim Chong; Vianna-Morgante Angela M; Vermeesch Joris R; Passos-Bueno Maria Rita
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.
American journal of medical genetics. Part A 2007;143A(16):1912-8.
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2007: Fanganiello Roberto D; Sertié Andréa L; Reis Eduardo M; Yeh Erika; Oliveira Nélio A J; Bueno Daniela F; Kerkis Irina; Alonso Nivaldo; Cavalheiro Sérgio; Matsushita Hamilton; Freitas Renato; Verjovski-Almeida Sergio; Passos-Bueno Maria Rita
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
Molecular medicine (Cambridge, Mass.) 2007;13(7-8):422-42.
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2007: Zechi-Ceide Roseli Maria; Guion-Almeida Maria Leine; de Oliveira Rodini Elaine Sbroggio; Jesus Oliveira Nélio Alessandro; Passos-Bueno Maria Rita
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.
Clinical dysmorphology 2007;16(3):163-6.
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2007: Keren Boris; Suzuki Oscar T; Gérard-Blanluet Marion; Brémond-Gignac Dominique; Elmaleh Monique; Titomanlio Luigi; Delezoide Anne-Lise; Passos-Bueno Maria Rita; Verloes Alain
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
American journal of medical genetics. Part A 2007;143A(13):1514-8.
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2007: Jenkins Dagan; Seelow Dominik; Jehee Fernanda S; Perlyn Chad A; Alonso Luis G; Bueno Daniela F; Donnai Dian; Josifova Dragana; Mathijssen Irene M J; Morton Jenny E V; Orstavik Karen Helene; Sweeney Elizabeth; Wall Steven A; Marsh Jeffrey L; Nurnberg Peter; Passos-Bueno Maria Rita; Wilkie Andrew O M
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
American journal of human genetics 2007;80(6):1162-70.
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2007: Errera Flavia I V; Canani Luís Henrique; Silva Maria Elisabeth R; Yeh Erika; Takahashi Walter; Santos Katia G; Souto Katia E P; Tschiedel Balduíno; Roisenberg Israel; Gross Jorge Luis; Passos-Bueno Maria Rita
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.
Diabetes care 2007;30(2):275-9.
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2006: Oliveira Nélio A J; Alonso Luís G; Fanganiello Roberto D; Passos-Bueno Maria Rita
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
Birth defects research. Part A, Clinical and molecular teratology 2006;76(8):629-33.
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2006: Errera F I V; Silva M E R; Yeh E; Maranduba C M C; Folco B; Takahashi W; Pereira A C; Krieger J E; Passos-Bueno M R
Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2006;39(7):883-8.
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2006: Maranduba C M C; Friesema E C H; Kok F; Kester M H A; Jansen J; Sertié A L; Passos-Bueno M R; Visser T J
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
Journal of medical genetics 2006;43(5):457-60.
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2006: Passos-Bueno Maria Rita; Suzuki Oscar T; Armelin-Correa Lucia M; Sertié Andréa L; Errera Flavia I V; Bagatini Kelly; Kok Fernando; Leite Katia R M
Mutations in collagen 18A1 and their relevance to the human phenotype.
Anais da Academia Brasileira de Ciências 2006;78(1):123-31.
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2006: Jehee Fernanda Sarquis; Alonso Luis G; Cavalcanti Denise P; Kim Chong; Wall Steven A; Mulliken John B; Sun Miao; Jabs Ethylin Wang; Boyadjiev Simeon A; Wilkie Andrew O M; Passos-Bueno Maria Rita
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):148-51.
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2005: Starling A; Schlesinger D; Kok F; Passos-Bueno M Rita; Vainzof M; Zatz M
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
Neurology 2005;65(11):1832-3.
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2005: Jehee Fernanda Sarquis; Rosenberg Carla; Krepischi-Santos Ana Cristina; Kok Fernando; Knijnenburg Jeroen; Froyen Guy; Vianna-Morgante Angela M; Opitz John M; Passos-Bueno Maria Rita
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.
American journal of medical genetics. Part A 2005;139(3):221-6.
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2005: Armelin-Correa Lucia M; Lin Chin J; Barbosa Angela; Bagatini Kelly; Winnischofer Sheila M B; Sogayar Mari C; Passos-Bueno Maria Rita
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.
Matrix biology : journal of the International Society for Matrix Biology 2005;24(8):550-9.
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2005: Masotti Cibele; Armelin-Correa Lucia M; Splendore Alessandra; Lin Chin J; Barbosa Angela; Sogayar Mari C; Passos-Bueno Maria Rita
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
Gene 2005;359():44-52.
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2005: Jehee F S; Johnson D; Alonso L G; Cavalcanti D P; de Sá Moreira E; Alberto F L; Kok F; Kim C; Wall S A; Jabs E W; Boyadjiev S A; Wilkie A O M; Passos-Bueno M R
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Clinical genetics 2005;67(6):503-10.
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2005: Splendore Alessandra; Fanganiello Roberto D; Masotti Cibele; Morganti Lucas S C; Passos-Bueno M Rita
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Human mutation 2005;25(5):429-34.
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2005: Suzuki Oscar T; Bagatini Kelly; Sertié Andréa L; Passos-Bueno Maria Rita
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
Human mutation 2005;25(3):314-5; author reply 316.
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2004: Starling Alessandra; Kok Fernando; Passos-Bueno Maria Rita; Vainzof Mariz; Zatz Mayana
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
European journal of human genetics : EJHG 2004;12(12):1033-40.
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2004: Passos-Bueno Maria Rita; Gaspar Dinamar A; Kamiya Tânia; Tescarollo Graziela; Rabanéa Daniel; Richieri-Costa Antonio; Alonso Nivaldo; Araújo Belmino
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2004;41(4):387-91.
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2004: Gaspar Dinamar A; Matioli Sergio R; de Cássia Pavanello Rita; Araújo Belmino C; Alonso Nivaldo; Wyszynski Diego; Passos-Bueno Maria Rita
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.
European journal of human genetics : EJHG 2004;12(7):521-6.
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2004: Zorick Todd S; Kleimann Suzana; Sertié A; Zatz Mayana; Rosenberg Sérgio; Passos-Bueno Maria Rita
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.
American journal of medical genetics. Part A 2004;127A(3):321-3.
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2004: Maranduba Carlos Magno da Costa; Sá Moreira Eloísa; Müller Orabona Guilherme; Pavanello Rita Cássia; Vianna-Morgante Angela M; Passos-Bueno Maria Rita
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
American journal of medical genetics. Part A 2004;124A(4):413-5.
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2004: Tonini M M O; Passos-Bueno M R; Cerqueira A; Matioli S R; Pavanello R; Zatz M
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).
Neuromuscular disorders : NMD 2004;14(1):33-8.
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2003: Splendore Alessandra; Jabs Ethylin Wang; Félix Têmis Maria; Passos-Bueno Maria Rita
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
European journal of human genetics : EJHG 2003;11(9):718-22.
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2003: Kliemann Susana E; Waetge Ricardo T L; Suzuki Oscar T; Passos-Bueno M Rita; Rosemberg Sérgio
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
American journal of medical genetics. Part A 2003;119A(1):15-9.
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2003: Moreira E S; Vainzof M; Suzuki O T; Pavanello R C M; Zatz M; Passos-Bueno M R
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Journal of medical genetics 2003;40(2):E12.
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2003: Vainzof Mariz; Passos-Bueno Maria Rita; Zatz Mayana
Immunological methods for the analysis of protein expression in neuromuscular diseases.
Methods in molecular biology (Clifton, N.J.) 2003;217():355-78.
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2002: Starling A; Rocco P; Passos-Bueno M R; Hazan J; Marie S K; Zatz M
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
Journal of medical genetics 2002;39(12):e77.
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2002: de Paula Flávia; Vainzof Mariz; Passos-Bueno Maria Rita; de Cássia M Pavanello Rita; Matioli Sergio Russo; V B Anderson Louise; Nigro Vincenzo; Zatz Mayana
Clinical variability in calpainopathy: what makes the difference?
European journal of human genetics : EJHG 2002;10(12):825-32.
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2002: Suzuki O T; Sertié A L; Der Kaloustian V M; Kok F; Carpenter M; Murray J; Czeizel A E; Kliemann S E; Rosemberg S; Monteiro M; Olsen B R; Passos-Bueno M R
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
American journal of human genetics 2002;71(6):1320-9.
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2002: Gaspar D A; Matioli S R; Pavanello R C; Araújo B C; André M; Steman S; Otto P A; Passos-Bueno M R
Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families.
Genetic epidemiology 2002;23(4):364-74.
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2002: Passos-Bueno Maria Rita; Armelin Lucia Maria; Alonso Luís Garcia; Neustein Isaac; Sertié Andréa L; Abe Kikue; Pavanello Rita de Cássia; Elkis Lívia C; Koiffmann Célia P
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
American journal of medical genetics 2002;113(2):200-6.
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2002: Vainzof Mariz; Moreira Eloisa S; Suzuki Oscar T; Faulkner Georgine; Valle Georgio; Beggs Alan H; Carpen Olli; Ribeiro Alberto F; Zanoteli Edmar; Gurgel-Gianneti Juliana; Tsanaclis Ana Maria; Silva Helga C A; Passos-Bueno Maria Rita; Zatz Mayana
Telethonin protein expression in neuromuscular disorders.
Biochimica et biophysica acta 2002;1588(1):33-40.
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2002: Starling A; Rocco P; Cambi F; Hobson G M; Passos Bueno M R; Zatz M
Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
American journal of medical genetics 2002;111(2):152-6.
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2002: Splendore Alessandra; Passos-Bueno Maria Rita; Jabs Ethylin Wang; Van Maldergem Lionel; Wulfsberg Eric A
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
American journal of medical genetics 2002;111(3):324-7.
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2002: Tonini M M O; Passos-Bueno M R; Cerqueira A; Pavanello R; Vainzof M; Dubowitz V; Zatz M
Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
Neuromuscular disorders : NMD 2002;12(6):554-7.
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2002: Splendore A; Jabs E W; Passos-Bueno M R
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
Journal of medical genetics 2002;39(7):493-5.
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2001: Zorick T S; Mustacchi Z; Bando S Y; Zatz M; Moreira-Filho C A; Olsen B; Passos-Bueno M R
High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.
European journal of human genetics : EJHG 2001;9(11):811-4.
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2001: Iughetti P; Suzuki O; Godoi P H; Alves V A; Sertié A L; Zorick T; Soares F; Camargo A; Moreira E S; di Loreto C; Moreira-Filho C A; Simpson A; Oliva G; Passos-Bueno M R
A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.
Cancer research 2001;61(20):7375-8.
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2001: Vainzof M; Anderson L V; McNally E M; Davis D B; Faulkner G; Valle G; Moreira E S; Pavanello R C; Passos-Bueno M R; Zatz M
Dysferlin protein analysis in limb-girdle muscular dystrophies.
Journal of molecular neuroscience : MN 2001;17(1):71-80.
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2001: Nitrini R; Teixeira da Silva L S; Rosemberg S; Caramelli P; Carrilho P E; Iughetti P; Passos-Bueno M R; Zatz M; Albrecht S; LeBlanc A
Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17.
Arquivos de neuro-psiquiatria 2001;59(2-A):161-4.
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2000: Iughetti P; Alonso L G; Wilcox W; Alonso N; Passos-Bueno M R
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
American journal of medical genetics 2000;95(5):482-91.
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2000: Zatz M; Vainzof M; Passos-Bueno M R
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes.
Current opinion in neurology 2000;13(5):511-7.
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2000: Splendore A; Silva E O; Alonso L G; Richieri-Costa A; Alonso N; Rosa A; Carakushanky G; Cavalcanti D P; Brunoni D; Passos-Bueno M R
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
Human mutation 2000;16(4):315-22.
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2000: Sertié A L; Sossi V; Camargo A A; Zatz M; Brahe C; Passos-Bueno M R
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
Human molecular genetics 2000;9(13):2051-8.
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2000: Oliveira J R; Carvalho D R; Pontual D; Gallindo R M; Sougey E B; Gentil V; Lafer B; Maia L G; Morais M A; Matioli S; Vallada H; Moreno R A; Nishimura A; Otto P A; Passos-Bueno M R; Zatz M
Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder.
Molecular psychiatry 2000;5(4):348-9.
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2000: Vainzof M; Moreira E S; Canovas M; Anderson L V; Pavanello R C; Passos-Bueno M R; Zatz M
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
Muscle & nerve 2000;23(6):984-8.
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2000: Moreira E S; Wiltshire T J; Faulkner G; Nilforoushan A; Vainzof M; Suzuki O T; Valle G; Reeves R; Zatz M; Passos-Bueno M R; Jenne D E
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
Nature genetics 2000;24(2):163-6.
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1999: Gaspar D A; Pavanello R C; Zatz M; Passos-Bueno M R; André M; Steman S; Wyszynski D F; Matiolli S R
Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil.
American journal of medical genetics 1999;87(2):197-9.
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1999: Eggers S; Pavanello R C; Passos-Bueno M R; Zatz M
Genetic counseling for childless women at risk for Duchenne muscular dystrophy.
American journal of medical genetics 1999;86(5):447-53.
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1999: Sertié A L; Sousa A V; Steman S; Pavanello R C; Passos-Bueno M R
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.
American journal of human genetics 1999;65(2):433-40.
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1999: Vainzof M; Passos-Bueno M R; Pavanello R C; Marie S K; Oliveira A S; Zatz M
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.
Journal of the neurological sciences 1999;164(1):44-9.
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1999: Vainzof M; Moreira E S; Ferraz G; Passos-Bueno M R; Marie S K; Zatz M
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex.
European journal of human genetics : EJHG 1999;7(2):251-4.
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1999: Passos-Bueno M R; Vainzof M; Moreira E S; Zatz M
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
American journal of medical genetics 1999;82(5):392-8.
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1999: Oliveira J R; Shimokomaki C M; Brito-Marques P R; Gallindo R M; Okuma M; Maia L G; Otto P A; Passos-Bueno M R; Zatz M
The association of the short variant of the 5-HTTPLR polymorphism and the apoE epsilon4 allele does not increase the risk for late onset Alzheimer's disease.
Molecular psychiatry 1999;4(1):19-20.
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1999: Passos-Bueno M R; Wilcox W R; Jabs E W; Sertié A L; Alonso L G; Kitoh H
Clinical spectrum of fibroblast growth factor receptor mutations.
Human mutation 1999;14(2):115-25.
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1999: Perez A B; Pereira L V; Brunoni D; Zatz M; Passos-Bueno M R
Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.
Human mutation 1999;13(1):84.
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1999: Sertié A L; Brahe C; Passos-Bueno M R
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online.
Human mutation 1999;13(2):170.
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1998: Sumita D R; Vainzof M; Campiotto S; Cerqueira A M; Cánovas M; Otto P A; Passos-Bueno M R; Zatz M
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.
American journal of medical genetics 1998;80(4):356-61.
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1998: Moreira E S; Vainzof M; Marie S K; Nigro V; Zatz M; Passos-Bueno M R
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Journal of medical genetics 1998;35(11):951-3.
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1998: Oliveira J R; Gallindo R M; Maia L G; Brito-Marques P R; Otto P A; Passos-Bueno M R; Morais M A; Zatz M
The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease.
Molecular psychiatry 1998;3(5):438-41.
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1998: Passos-Bueno M R; Richieri-Costa A; Sertié A L; Kneppers A
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Journal of medical genetics 1998;35(8):677-9.
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1998: Zatz M; Sumita D; Campiotto S; Canovas M; Cerqueira A; Vainzof M; Passos-Bueno M R
Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.
American journal of medical genetics 1998;78(4):361-5.
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1998: Passos-Bueno M R; Sertié A L; Richieri-Costa A; Alonso L G; Zatz M; Alonso N; Brunoni D; Ribeiro S F
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
American journal of medical genetics 1998;78(3):237-41.
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1998: Iughetti P; Otto P A; Zatz M; Passos Bueno M R; Marie S K
Different behavior in the paternally vs. maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families.
American journal of medical genetics 1998;77(3):246-8.
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1998: Zatz M; Marie S K; Cerqueira A; Vainzof M; Pavanello R C; Passos-Bueno M R
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.
American journal of medical genetics 1998;77(2):155-61.
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1998: Mendes de Oliveira J R; Otto P A; Vallada H; Lauriano V; Elkis H; Lafer B; Vasquez L; Gentil V; Passos-Bueno M R; Zatz M
Analysis of a novel functional polymorphism within the promoter region of the serotonin transporter gene (5-HTT) in Brazilian patients affected by bipolar disorder and schizophrenia.
American journal of medical genetics 1998;81(3):225-7.
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1997: Zatz M; Cerqueira A; Vainzof M; Passos-Bueno M R
Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families.
Journal of medical genetics 1997;34(9):790-1.
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1997: Vainzof M; Costa C S; Marie S K; Moreira E S; Reed U; Passos-Bueno M R; Beggs A H; Zatz M
Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy.
Neuropediatrics 1997;28(4):223-8.
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1997: Nitrini R; Rosemberg S; Passos-Bueno M R; da Silva L S; Iughetti P; Papadopoulos M; Carrilho P M; Caramelli P; Albrecht S; Zatz M; LeBlanc A
Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
Annals of neurology 1997;42(2):138-46.
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1997: Passos-Bueno M R; Sertié A L; Zatz M; Richieri-Costa A
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?
American journal of medical genetics 1997;71(2):243-5.
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1997: Moreira E S; Vainzof M; Marie S K; Sertié A L; Zatz M; Passos-Bueno M R
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.
American journal of human genetics 1997;61(1):151-9.
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1997: Oliveira J R; Lima Filho J L; Shimokomaki C M; Okuma M; Passos-Bueno M R; Zatz M; Brito-Marques P R
The use of apolipoprotein E genotype for preclinical detection of risk's group for Alzheimer's disease.
American journal of medical genetics 1997;74(2):216-7.
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1997: Sitnik R; Campiotto S; Vainzof M; Pavanello R C; Takata R I; Zatz M; Passos-Bueno M R
Novel point mutations in the dystrophin gene.
Human mutation 1997;10(3):217-22.
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1996: Bushby K; Bashir R; Keers S; Britton S; Zatz M; Passos-Bueno M R; Lovett M; Mahjneh I; Marconi G; Strachan T
The molecular biology of LGMD2B--towards the identification of the LGMD gene on chromosome 2p13.
Neuromuscular disorders : NMD 1996;6(6):491-2.
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1996: Mahjneh I; Passos-Bueno M R; Zatz M; Vainzof M; Marconi G; Nashef L; Bashir R; Bushby K
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(6):483-90.
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1996: Vainzof M; Passos-Bueno M R; Canovas M; Moreira E S; Pavanello R C; Marie S K; Anderson L V; Bonnemann C G; McNally E M; Nigro V; Kunkel L M; Zatz M
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Human molecular genetics 1996;5(12):1963-9.
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1996: Bönnemann C G; Passos-Bueno M R; McNally E M; Vainzof M; de Sá Moreira E; Marie S K; Pavanello R C; Noguchi S; Ozawa E; Zatz M; Kunkel L M
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Human molecular genetics 1996;5(12):1953-61.
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1996: McNally E M; Passos-Bueno M R; Bönnemann C G; Vainzof M; de Sá Moreira E; Lidov H G; Othmane K B; Denton P H; Vance J M; Zatz M; Kunkel L M
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
American journal of human genetics 1996;59(5):1040-7.
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1996: Nigro V; de Sá Moreira E; Piluso G; Vainzof M; Belsito A; Politano L; Puca A A; Passos-Bueno M R; Zatz M
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
Nature genetics 1996;14(2):195-8.
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1996: Sertié A L; Quimby M; Moreira E S; Murray J; Zatz M; Antonarakis S E; Passos-Bueno M R
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.
Human molecular genetics 1996;5(6):843-7.
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1996: Passos-Bueno M R; Moreira E S; Vainzof M; Marie S K; Zatz M
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD.
Human molecular genetics 1996;5(6):815-20.
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1996: Zatz M; Passos-Bueno M R; Cerqueira A; Vainzof M
CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)
Journal of medical genetics 1996;33(2):173.
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1996: Passos-Bueno M R; Moreira E S; Marie S K; Bashir R; Vasquez L; Love D R; Vainzof M; Iughetti P; Oliveira J R; Bakker E; Strachan T; Bushby K; Zatz M
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Journal of medical genetics 1996;33(2):97-102.
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1995: Vainzof M; Marie S K; Reed U C; Schwartzman J S; Pavanello R C; Passos-Bueno M R; Zatz M
Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations.
Neuropediatrics 1995;26(6):293-7.
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1995: Vainzof M; Passos-Bueno M R; Pavanello R C; Zatz M
Is dystrophin always altered in Becker muscular dystrophy patients?
Journal of the neurological sciences 1995;131(1):99-104.
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1995: Passos-Bueno M R; Bashir R; Moreira E S; Vainzof M; Marie S K; Vasquez L; Iughetti P; Bakker E; Keers S; Stephenson A
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.
Genomics 1995;27(1):192-5.
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1995: Zatz M; Passos-Bueno M R; Cerqueira A; Marie S K; Vainzof M; Pavanello R C
Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?
Human molecular genetics 1995;4(3):401-6.
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1995: Melo M; Lauriano V; Gentil V; Eggers S; Del Bianco S S; Gimenez P R; Akiyama J; Okabaiashi H; Frota-Pessoa O; Passos-Bueno M R
Becker and limb-girdle muscular dystrophies: a psychiatric and intellectual level comparative study.
American journal of medical genetics 1995;60(1):33-8.
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1995: Eggers S; Lauriano V; Melo M; Takata R I; Akiyama J; Passos-Bueno M R; Gentil V; Frota-Pessoa O; Zatz M
Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?
American journal of medical genetics 1995;60(1):27-32.
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1995: Passos-Bueno M R; Cerqueira A; Vainzof M; Marie S K; Zatz M
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.
Journal of medical genetics 1995;32(1):14-8.
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1995: Zatz M; Marie S K; Passos-Bueno M R; Vainzof M; Campiotto S; Cerqueira A; Wijmenga C; Padberg G; Frants R
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.
American journal of human genetics 1995;56(1):99-105.
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1994: Reed U C; Passos-Bueno M R; Nagahashi-Marie S K; Cerqueira A; Mendonça L I; Levy J A; Diament A; Zatz M
[Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)]
Arquivos de neuro-psiquiatria 1994;52(4):545-8.
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1994: Passos-Bueno M R; Marie S K; Monteiro M; Neustein I; Whittle M R; Vainzof M; Zatz M
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
American journal of medical genetics 1994;52(2):170-3.
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1994: Passos-Bueno M R; Vainzof M; Marie S K; Zatz M
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.
Human molecular genetics 1994;3(6):919-22.
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1994: Zatz M; Matsumura K; Vainzof M; Passos-Bueno M R; Pavanello R C; Marie S K; Campbell K P
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.
Journal of the neurological sciences 1994;123(1-2):122-8.
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1993: Passos-Bueno M R; Oliveira J R; Bakker E; Anderson R D; Marie S K; Vainzof M; Roberds S; Campbell K P; Zatz M
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.
Human molecular genetics 1993;2(11):1945-7.
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1993: Vainzof M; Passos-Bueno M R; Takata R I; Pavanello R de C; Zatz M
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
Journal of the neurological sciences 1993;119(1):38-42.
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1993: Eggers S; Passos-Bueno M R; Zatz M
Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.
Journal of medical genetics 1993;30(7):589-92.
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1993: Passos-Bueno M R; Wijmenga C; Takata R E; Marie S K; Vainzof M; Pavanello R C; Hewitt J E; Bakker E; Carvalho A; Akiyama J
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
Human molecular genetics 1993;2(5):557-62.
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1993: Passos-Bueno M R; Richard I; Vainzof M; Fougerousse F; Weissenbach J; Broux O; Cohen D; Akiyama J; Marie S K; Carvalho A A
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Journal of medical genetics 1993;30(5):385-7.
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1993: Passos-Bueno M R; Byth B C; Rosenberg S; Takata R I; Bakker E; Beggs A H; Pavanello R C; Vainzof M; Davies K E; Zatz M
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
American journal of medical genetics 1993;46(2):172-5.
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1993: Vainzof M; Nicholson L V; Bulman D E; Tsanaclis A M; Passos-Bueno M R; Pavanello R C; Zatz M
Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers.
Neuromuscular disorders : NMD 1993;3(2):135-40.
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1993: Passos-Bueno M R; Bakker E; Marie S K; Pavanello R C; Vainzof M; Carvalho A A; Cohen D; Beckmann J; Zatz M
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
Human molecular genetics 1993;2(2):201-2.
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1993: Zatz M; Vallada H; Melo M S; Passos-Bueno M R; Vieira A H; Vainzof M; Gill M; Gentil V
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
Journal of medical genetics 1993;30(2):131-4.
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1993: Vainzof M; Takata R I; Passos-Bueno M R; Pavanello R C; Zatz M
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Human molecular genetics 1993;2(1):39-42.
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1992: Passos-Bueno M R; Bakker E; Kneppers A L; Takata R I; Rapaport D; den Dunnen J T; Zatz M; van Ommen G J
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
American journal of human genetics 1992;51(5):1150-5.
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1992: Vainzof M; Passos-Bueno M R; Rapaport D; Pavanello R C; Zatz M; Bulman D E
Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion.
American journal of medical genetics 1992;44(3):382-4.
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1992: Vainzof M; Passos-Bueno M R; Pavanello R C; Schreiber R; Zatz M
A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers.
Journal of medical genetics 1992;29(7):476-9.
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1992: Rapaport D; Passos-Bueno M R; Takata R I; Campiotto S; Eggers S; Vainzof M; Makover A; Nudel U; Yaffe D; Zatz M
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation.
Neuromuscular disorders : NMD 1992;2(2):117-20.
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1992: Zatz M; Pavanello R de C; Vainzof M; Passos-Bueno M R
Steroids in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1992;2(1):59.
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1991: Byth B C; Love D R; Passos-Bueno M R; Davies K E
A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6q.
Nucleic acids research 1991;19(15):4310.
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1991: Rapaport D; Passos-Bueno M R; Brandão L; Love D; Vainzof M; Zatz M
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy.
American journal of medical genetics 1991;39(4):437-41.
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1991: Passos-Bueno M R; Vainzof M; Pavanello R de C; Pavanello-Filho I; Lima M A; Zatz M
Limb-girdle syndrome: a genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies.
Journal of the neurological sciences 1991;103(1):65-75.
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1991: Zatz M; Rapaport D; Vainzof M; Passos-Bueno M R; Bortolini E R; Pavanello R de C; Peres C A
Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy.
Journal of the neurological sciences 1991;102(2):190-6.
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1991: Passos-Bueno M R; Byth B; Love D; Terwilliger J; Ott J; Rapaport D; Vainzof M; Zatz M; Davies K E
Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27.
Journal of the neurological sciences 1991;102(2):206-8.
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1991: Vainzof M; Pavanello R C; Pavanello-Filho I; Rapaport D; Passos-Bueno M R; Zubrzycka-Gaarn E E; Bulman D E; Zatz M
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.
American journal of medical genetics 1991;39(1):38-41.
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1991: Vainzof M; Zubrzycka-Gaarn E E; Rapaport D; Passos-Bueno M R; Pavanello R C; Pavanello-Filho I; Zatz M
Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein.
Journal of the neurological sciences 1991;101(2):141-7.
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1991: Passos-Bueno M R; Terwilliger J; Ott J; Vainzof M; Love D R; Davies K E; Zatz M
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.
American journal of medical genetics 1991;38(1):140-6.
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1991: Zatz M; Passos-Bueno M R; Rapaport D; Vainzof M
Familial occurrence of Duchenne dystrophy through paternal lines in four families.
American journal of medical genetics 1991;38(1):80-4.
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1991: Vainzof M; Pavanello R C; Pavanello I; Tsanaclis A M; Levy J A; Passos-Bueno M R; Rapaport D; Zatz M
Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.
Neuromuscular disorders : NMD 1991;1(3):177-83.
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1990: Vainzof M; Pavanello R C; Pavanello Filho I; Passos-Bueno M R; Rapaport D; Hsi C T; Zatz M
Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study.
Journal of the neurological sciences 1990;98(2-3):221-33.
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1990: Passos-Bueno M R; Rapaport D; Love D; Flint T; Bortolini E R; Zatz M; Davies K E
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.
Journal of medical genetics 1990;27(3):145-50.
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1989: Zatz M; Passos-Bueno M R; Vainzof M; Pavanello R C
Hypothesis: the existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings.
American journal of medical genetics 1989;32(3):438-41.
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1989: Zatz M; Passos-Bueno M R; Rapaport D
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.
American journal of medical genetics 1989;32(3):407-10.
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1989: Passos-Bueno M R; Otto P A; Zata M
Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophy.
Human heredity 1989;39(4):202-11.
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