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Artigo de periodico
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries (2024)
Mazzonetto, Patricia Camacho ; Villela, Darine ; Krepischi, Ana Cristina Victorino ; Pierry, Paulo Marques ; Bonaldi, Adriano; Almeida, Luiz Gustavo Dufner de ; Paula, Marcelo Gomes de ; Bürger, Matheus Carvalho ; Oliveira, Ana Gabriela de; Fonseca, Gustavo G. G; Giugliani, Roberto ; Riegel-Giugliani, Mariluce ; Bertola, Débora Romeo ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Campos, Gabriele da Silva ; Machado, Ana Claudia Dantas ; Mazzeu, Juliana Forte ; Perrone, Eduardo ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Vieira, Társis Paiva ; Steiner, Carlos Eduardo ; Gil-da-Silva-Lopes, Vera Lúcia ; Vieira, Daniela Koeller Rodrigues; Boy, Raquel ; Pina Neto, João Monteiro de ; Scapulatempo Neto, Cristovam ; Milanezi, Fernanda ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidades: IB, BIOINFORMÁTICA, HRAC, FMRP
Subjects: CITOGENÉTICA, GENOMAS, CUIDADO PÓS-NATAL, DIAGNÓSTICO
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ABNT
MAZZONETTO, Patricia Camacho et al. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, v. No 2024, n. 11, p. e63802, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63802. Acesso em: 09 nov. 2024.
APA
Mazzonetto, P. C., Villela, D., Krepischi, A. C. V., Pierry, P. M., Bonaldi, A., Almeida, L. G. D. de, et al. (2024). Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, No 2024( 11), e63802. doi:10.1002/ajmg.a.63802
NLM
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Vancouver
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Artigo de periodico
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023)
Lazzaro Filho, Ricardo Di; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D. W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae ; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe M; Warma, Matthew; Passos-Bueno, Maria Rita ; Hoch, Nicolas Carlos ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Subjects: GENÉTICA MÉDICA, ANÁLISE DE SEQUÊNCIA DE DNA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
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ABNT
LAZZARO FILHO, Ricardo Di et al. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, 2023Tradução . . Disponível em: https://doi.org/10.1136/jmg-2022-109119. Acesso em: 09 nov. 2024.
APA
Lazzaro Filho, R. D., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. A. A., et al. (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics. doi:10.1136/jmg-2022-109119
NLM
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Vancouver
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Artigo de periodico
Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Koiffmann, Celia Priszkulnik ; Kim, Chong Ae ; Vianna-Morgante, Angela M ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Source: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Subjects: MICROCEFALIA, REVISÃO SISTEMÁTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 09 nov. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport (2022)
Moreira, Danielle de Paula; Suzuki, Angela May; Silva, André Luiz Teles e; Varella-Branco, Elisa; Meneghetti, Maria Cecília Zorél; Kobayashi, Gerson Shigeru ; Fogo, Mariana; Ferrari, Merari de Fátima Ramires ; Cardoso, Rafaela Regina; Lourenço, Naila Cristina Vilaça ; Griesi-Oliveira, Karina; Zachi, Elaine Cristina; Bertola, Débora Romeo; Weinmann, Karina de Souza; Lima, Marcelo Andrade de; Nader, Helena Bonciani; Sertié, Andrea Laurato; Passos-Bueno, Maria Rita
Source: Frontiers in Plant Science. Unidades: IB, IP
Subjects: NEUROBIOLOGIA, GENÉTICA MÉDICA, DOENÇAS CEREBRAIS
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ABNT
MOREIRA, Danielle de Paula et al. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.3389/fncel.2021.803302. Acesso em: 09 nov. 2024.
APA
Moreira, D. de P., Suzuki, A. M., Silva, A. L. T. e, Varella-Branco, E., Meneghetti, M. C. Z., Kobayashi, G. S., et al. (2022). Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, 12. doi:10.3389/fncel.2021.803302
NLM
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 nov. 09 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Vancouver
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 nov. 09 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Artigo de periodico
Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
Rocha, Letícia Alves da ; Pires, Lucas Vieira Lacerda ; Yamamoto, Guilherme Lopes ; Ceroni, José Ricardo Magliocco; Honjo, Rachel Sayuri; França Bisneto, Edgard de Novaes; Oliveira, Luiz Antônio Nunes; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Passos-Bueno, Maria Rita ; Kim, Chong Ae ; Bertola, Débora Romeo
Source: Clinical Genetics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS CONGÊNITAS, DOENÇAS GENÉTICAS
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ABNT
ROCHA, Letícia Alves da et al. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, p. 615-623, 2021Tradução . . Disponível em: https://doi.org/10.1111/cge.14041. Acesso em: 09 nov. 2024.
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1111/cge.14041
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1111/cge.14041
Artigo de periodico
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome (2017)
Miller, Emily E; Kobayashi, Gerson S; Musso, Camila M; Allen, Miranda; Ishiy, Felipe A. A; Caires Jr, Luiz Carlos de; Goulart, Ernesto ; Griesi-Oliveira, Karina; Zechi-Ceide, Roseli Maria; Richieri-Costa, Antonio; Bertola, Débora Romeo; Passos-Bueno, Maria Rita ; Silver, Debra L
Source: Human Molecular Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MODELOS ANIMAIS, MALFORMAÇÕES, DISOSTOSE MANDIBULOFACIAL
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ABNT
MILLER, Emily E et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, v. 26, n. 12, p. 2177-2191, 2017Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddx078. Acesso em: 09 nov. 2024.
APA
Miller, E. E., Kobayashi, G. S., Musso, C. M., Allen, M., Ishiy, F. A. A., Caires Jr, L. C. de, et al. (2017). EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, 26( 12), 2177-2191. doi:10.1093/hmg/ddx078
NLM
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1093/hmg/ddx078
Vancouver
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1093/hmg/ddx078
Artigo de periodico
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome (2015)
Marques, Júlia Hatagami; Yamamoto, Guilherme Lopes; Testai, Larissa de Cássia; Pereira, Alexandre da Costa; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: Molecular Syndromology. Unidades: FM, IB
Subjects: DOENÇAS GENÉTICAS, SINAIS E SINTOMAS, SEQUENCIAMENTO GENÉTICO, MUTAÇÃO GENÉTICA, DOENÇAS CONGÊNITAS, GENÉTICA MÉDICA
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ABNT
MARQUES, Júlia Hatagami et al. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome. Molecular Syndromology, v. 6, n. 2, p. 87-90, 2015Tradução . . Disponível em: https://doi.org/10.1159/000407418. Acesso em: 09 nov. 2024.
APA
Marques, J. H., Yamamoto, G. L., Testai, L. de C., Pereira, A. da C., Kim, C. A., Passos-Bueno, M. R., & Bertola, D. R. (2015). Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome. Molecular Syndromology, 6( 2), 87-90. doi:10.1159/000407418
NLM
Marques JH, Yamamoto GL, Testai L de C, Pereira A da C, Kim CA, Passos-Bueno MR, Bertola DR. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome [Internet]. Molecular Syndromology. 2015 ; 6( 2): 87-90.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1159/000407418
Vancouver
Marques JH, Yamamoto GL, Testai L de C, Pereira A da C, Kim CA, Passos-Bueno MR, Bertola DR. Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome [Internet]. Molecular Syndromology. 2015 ; 6( 2): 87-90.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1159/000407418
Artigo de periodico-carta/editorial
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] (2015)
Bertola, Débora Romeo; Passos-Bueno, Maria Rita ; Pereira, Alexandre; Kim, Chong Ae; Morgan, Tim; Robertson, Stephen P
Source: AMERICAN JOURNAL OF MEDICAL GENETICS Part A. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, FENÓTIPOS, PROTEÍNAS, CROMOSSOMO X, PERDA AUDITIVA, ANORMALIDADES CRANIOFACIAIS, OSSOS FACIAIS, FISSURA PALATINA, DOENÇAS GENÉTICAS
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ABNT
BERTOLA, Débora Romeo et al. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/ajmg.a.36981. Acesso em: 09 nov. 2024. , 2015
APA
Bertola, D. R., Passos-Bueno, M. R., Pereira, A., Kim, C. A., Morgan, T., & Robertson, S. P. (2015). Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/ajmg.a.36981
NLM
Bertola DR, Passos-Bueno MR, Pereira A, Kim CA, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] [Internet]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. 2015 ; 1-4.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36981
Vancouver
Bertola DR, Passos-Bueno MR, Pereira A, Kim CA, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] [Internet]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. 2015 ; 1-4.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36981
Artigo de periodico
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome (2015)
Yamamoto, Guilherme Lopes; Aguena, Meire; Gos, Monika; Hung, Christina; Pilch, Jacek; Fahiminiya, Somayyeh; Abramowicz, Anna; Cristian, Ingrid; Buscarilli, Michelle; Naslavsky, Michel ; Malaquias, Alexsandra C.; Zatz, Mayana ; Bodamer, Olaf; Majewski, Jacek; Jorge, Alexander A. L.; Pereira, Alexandre C.; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: FM, IB
Subjects: ESTUDOS DE COORTES, ESTATÍSTICA (MÉTODOS), ANORMALIDADES CARDIOVASCULARES, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
YAMAMOTO, Guilherme Lopes et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, v. 52, n. 6, p. 413-421, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2015-103018. Acesso em: 09 nov. 2024.
APA
Yamamoto, G. L., Aguena, M., Gos, M., Hung, C., Pilch, J., Fahiminiya, S., et al. (2015). Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of Medical Genetics, 52( 6), 413-421. doi:10.1136/jmedgenet-2015-103018
NLM
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
Vancouver
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky M, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AAL, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome [Internet]. Journal of Medical Genetics. 2015 ; 52( 6): 413-421.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2015-103018
Artigo de periodico
Genetics and genomics in Brazil: a promising future (2014)
Passos-Bueno, Maria Rita ; Bertola, Débora Romeo; Horovitz, Dafne Dain Gandelman; Ferraz, Victor Evangelista de Faria; Brito, Luciano Abreu
Source: Molecular Genetics & Genomic Medicine. Unidades: IB, FMRP
Subjects: GENÉTICA MÉDICA, SISTEMA ÚNICO DE SAÚDE, ACONSELHAMENTO GENÉTICO, GENÉTICA, SAÚDE PÚBLICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Genetics and genomics in Brazil: a promising future. Molecular Genetics & Genomic Medicine, v. 2, n. 4, p. 280-291, 2014Tradução . . Disponível em: https://doi.org/10.1002/mgg3.95. Acesso em: 09 nov. 2024.
APA
Passos-Bueno, M. R., Bertola, D. R., Horovitz, D. D. G., Ferraz, V. E. de F., & Brito, L. A. (2014). Genetics and genomics in Brazil: a promising future. Molecular Genetics & Genomic Medicine, 2( 4), 280-291. doi:10.1002/mgg3.95
NLM
Passos-Bueno MR, Bertola DR, Horovitz DDG, Ferraz VE de F, Brito LA. Genetics and genomics in Brazil: a promising future [Internet]. Molecular Genetics & Genomic Medicine. 2014 ; 2( 4): 280-291.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/mgg3.95
Vancouver
Passos-Bueno MR, Bertola DR, Horovitz DDG, Ferraz VE de F, Brito LA. Genetics and genomics in Brazil: a promising future [Internet]. Molecular Genetics & Genomic Medicine. 2014 ; 2( 4): 280-291.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/mgg3.95
Artigo de periodico
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy (2014)
Yamamoto, Guilherme L.; Baratela, Wagner A. R.; Almeida, Tatiana F.; Lazar, Monize; Afonso, Clara L.; Oyamada, Maria K.; Suzuki, Lisa; Oliveira, Luiz A. N.; Ramos, Ester Silveira; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Source: American Journal of Human Genetics. Unidades: FMRP, FM, IB
Subjects: OFTALMOLOGIA (MÉTODOS), DOENÇAS RETINIANAS (GENÉTICA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
YAMAMOTO, Guilherme L. et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.11.022. Acesso em: 09 nov. 2024.
APA
Yamamoto, G. L., Baratela, W. A. R., Almeida, T. F., Lazar, M., Afonso, C. L., Oyamada, M. K., et al. (2014). Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, 94( 1), 113-119. doi:10.1016/j.ajhg.2013.11.022
NLM
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Vancouver
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Artigo de periodico
Further evidence of the importance of RIT1 in Noonan syndrome (2014)
Bertola, Débora Romeo; Yamamoto, Guilherme L; Almeida, Tatiana F; Buscarilli, Michele; Jorge, Alexander A L; Malaquias, Alexsandra C; Kim, Chong A; Takahashi, Vanessa N. V; Passos-Bueno, Maria Rita ; Pereira, Alexandre C
Source: American Journal of Medical Genetics Part A. Unidades: IB, FM
Subjects: FENÓTIPOS, HIPERTROFIA VENTRICULAR ESQUERDA, MUTAÇÃO GENÉTICA, SEQUENCIAMENTO GENÉTICO, ANORMALIDADES CARDIOVASCULARES, INSUFICIÊNCIA DE CRESCIMENTO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo et al. Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, p. 1-6, 2014Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36722. Acesso em: 09 nov. 2024.
APA
Bertola, D. R., Yamamoto, G. L., Almeida, T. F., Buscarilli, M., Jorge, A. A. L., Malaquias, A. C., et al. (2014). Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, 1-6. doi:10.1002/ajmg.a.36722
NLM
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36722
Vancouver
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.36722
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 09 nov. 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 09 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 09 ]
Artigo de periodico
Challenges in the orthodontic treatment of a patient with pycnodysostosis (2013)
Ortegosa, Márcio Vieira; Bertola, Débora Romeo; Aguena, Meire; Passos-Bueno, Maria Rita ; Kim, Chong Ae; Faria, Maria Estela Justamante
Source: The Cleft Palate-Craniofacial Journal. Unidade: IB
Subjects: TRATAMENTO ORTODÔNTICO, OSSOS FACIAIS, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ORTEGOSA, Márcio Vieira et al. Challenges in the orthodontic treatment of a patient with pycnodysostosis. The Cleft Palate-Craniofacial Journal, v. 51, n. 1, p. online, 2013Tradução . . Disponível em: https://doi.org/10.1597/12-233. Acesso em: 09 nov. 2024.
APA
Ortegosa, M. V., Bertola, D. R., Aguena, M., Passos-Bueno, M. R., Kim, C. A., & Faria, M. E. J. (2013). Challenges in the orthodontic treatment of a patient with pycnodysostosis. The Cleft Palate-Craniofacial Journal, 51( 1), online. doi:10.1597/12-233
NLM
Ortegosa MV, Bertola DR, Aguena M, Passos-Bueno MR, Kim CA, Faria MEJ. Challenges in the orthodontic treatment of a patient with pycnodysostosis [Internet]. The Cleft Palate-Craniofacial Journal. 2013 ; 51( 1): online.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1597/12-233
Vancouver
Ortegosa MV, Bertola DR, Aguena M, Passos-Bueno MR, Kim CA, Faria MEJ. Challenges in the orthodontic treatment of a patient with pycnodysostosis [Internet]. The Cleft Palate-Craniofacial Journal. 2013 ; 51( 1): online.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1597/12-233
Artigo de periodico
A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder (2012)
Griesi-Oliveira, Karina; Moreira, Danielle de Paula; Davis-Wright, Nicole; Sanders, Stephan; Mason, Christopher; Orabona, Guilherme Müller; Vadasz, Estevão; Bertola, Débora Romeo; State, Matthew W; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. Unidade: IB
Subjects: AUTISMO, TRANSTORNOS MENTAIS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GRIESI-OLIVEIRA, Karina et al. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, v. 159B, n. 5, p. 529-536, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.b.32059. Acesso em: 09 nov. 2024.
APA
Griesi-Oliveira, K., Moreira, D. de P., Davis-Wright, N., Sanders, S., Mason, C., Orabona, G. M., et al. (2012). A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B( 5), 529-536. doi:10.1002/ajmg.b.32059
NLM
Griesi-Oliveira K, Moreira D de P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder [Internet]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2012 ; 159B( 5): 529-536.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.b.32059
Vancouver
Griesi-Oliveira K, Moreira D de P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder [Internet]. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2012 ; 159B( 5): 529-536.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.b.32059
Artigo de periodico
Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 (2011)
Bertola, Débora Romeo; Aguena, Meire; Yamamoto, Guilherme; Kim, Chong Ae; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS, OBESIDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo et al. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. American Journal of Medical Genetics Part A, v. 155A, n. 6, p. 1483-1486, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33989. Acesso em: 09 nov. 2024.
APA
Bertola, D. R., Aguena, M., Yamamoto, G., Kim, C. A., & Passos-Bueno, M. R. (2011). Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. American Journal of Medical Genetics Part A, 155A( 6), 1483-1486. doi:10.1002/ajmg.a.33989
NLM
Bertola DR, Aguena M, Yamamoto G, Kim CA, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 6): 1483-1486.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.33989
Vancouver
Bertola DR, Aguena M, Yamamoto G, Kim CA, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 6): 1483-1486.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.33989
Artigo de periodico
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries (2011)
Jehee, Fernanda Sarquis; Takamori, Jean Tetsuo; Medeiros, Paula F. Vasconcelos; Pordeus, Ana Carolina B.; Latini, Flavia Roche M.; Bertola, Débora Romeo; Kim, Chong Ae; Passos-Bueno, Maria Rita
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JEHEE, Fernanda Sarquis et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, v. 54, n. 4, p. e425-e432, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2011.03.007. Acesso em: 09 nov. 2024.
APA
Jehee, F. S., Takamori, J. T., Medeiros, P. F. V., Pordeus, A. C. B., Latini, F. R. M., Bertola, D. R., et al. (2011). Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, 54( 4), e425-e432. doi:10.1016/j.ejmg.2011.03.007
NLM
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007
Vancouver
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007
Artigo de periodico
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies (2011)
Brito, Luciano Abreu; Cruz, Lucas A.; Rocha, Kátia Maria da; Barbara, Ligia K.; Silva, Camila B. F.; Bueno, Daniela Franco; Aguena, Meire; Bertola, Débora Romeo; Franco, Diogo; Costa, André M.; Alonso, Nivaldo; Otto, Paulo A ; Passos-Bueno, Maria Rita
Source: American Journal Medical Genetics Part A. Unidades: IB, FM
Subjects: LÁBIO FISSURADO, HEREDITARIEDADE, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BRITO, Luciano Abreu et al. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. American Journal Medical Genetics Part A, v. 155 A, n. 7, p. 1581-1587, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.34036. Acesso em: 09 nov. 2024.
APA
Brito, L. A., Cruz, L. A., Rocha, K. M. da, Barbara, L. K., Silva, C. B. F., Bueno, D. F., et al. (2011). Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. American Journal Medical Genetics Part A, 155 A( 7), 1581-1587. doi:10.1002/ajmg.a.34036
NLM
Brito LA, Cruz LA, Rocha KM da, Barbara LK, Silva CBF, Bueno DF, Aguena M, Bertola DR, Franco D, Costa AM, Alonso N, Otto PA, Passos-Bueno MR. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies [Internet]. American Journal Medical Genetics Part A. 2011 ; 155 A( 7): 1581-1587.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.34036
Vancouver
Brito LA, Cruz LA, Rocha KM da, Barbara LK, Silva CBF, Bueno DF, Aguena M, Bertola DR, Franco D, Costa AM, Alonso N, Otto PA, Passos-Bueno MR. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies [Internet]. American Journal Medical Genetics Part A. 2011 ; 155 A( 7): 1581-1587.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.34036
Artigo de periodico
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice (2011)
Vissers, Lisenka E. L. M.; Cox, Timothy C.; Maga, A. Murat; Short, Kieran M.; Wiradjaja, Fenny; Janssen, Irene M.; Jehee, Fernanda Sarquis; Bertola, Débora Romeo; Liu, Jia; Yagnik, Garima; Sekiguchi, Kiyotoshi; Kiyozumi, Daiji; Bokhoven, Hans van; Marcelis, Carlo; Cunningham, Michael; Anderson, Peter J.; Boyadjiev, Simeon A; Passos-Bueno, Maria Rita ; Veltman, Joris A; Smyth, Ian; Buckley, Michael F.; Roscioli, Tony
Source: PLoS Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, CRANIOSSINOSTOSE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VISSERS, Lisenka E. L. M. et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics, v. 7, p. e1002278, 2011Tradução . . Disponível em: https://doi.org/10.1371/journal.pgen.1002278. Acesso em: 09 nov. 2024.
APA
Vissers, L. E. L. M., Cox, T. C., Maga, A. M., Short, K. M., Wiradjaja, F., Janssen, I. M., et al. (2011). Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics, 7, e1002278. doi:10.1371/journal.pgen.1002278
NLM
Vissers LELM, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee FS, Bertola DR, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, Bokhoven H van, Marcelis C, Cunningham M, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice [Internet]. PLoS Genetics. 2011 ; 7 e1002278.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1371/journal.pgen.1002278
Vancouver
Vissers LELM, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee FS, Bertola DR, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, Bokhoven H van, Marcelis C, Cunningham M, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice [Internet]. PLoS Genetics. 2011 ; 7 e1002278.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1371/journal.pgen.1002278
Artigo de periodico
Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities (2010)
Bertola, Débora Romeo; Amaral, Cassio; Kim, Chong Ae; Albano, Lilian Maria José; Aguena, Meire; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: CRANIOSSINOSTOSE, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo et al. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. American Journal of Medical Genetics Part A, v. 152A, n. 10, p. 2599-2603, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33609. Acesso em: 09 nov. 2024.
APA
Bertola, D. R., Amaral, C., Kim, C. A., Albano, L. M. J., Aguena, M., & Passos-Bueno, M. R. (2010). Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. American Journal of Medical Genetics Part A, 152A( 10), 2599-2603. doi:10.1002/ajmg.a.33609
NLM
Bertola DR, Amaral C, Kim CA, Albano LMJ, Aguena M, Passos-Bueno MR. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 10): 2599-2603.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.33609
Vancouver
Bertola DR, Amaral C, Kim CA, Albano LMJ, Aguena M, Passos-Bueno MR. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 10): 2599-2603.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1002/ajmg.a.33609

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