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Artigo de periodico
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (2021)
Tavares, Vanessa Luiza Romanelli ; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S; Dunnen, Johan T Den; Twigg, Stephen R F; Passos-Bueno, Maria Rita
Fonte: Journal of Medical Genetics. Unidades: IB, BIOINFORMÁTICA
Assuntos: GENÉTICA, DOENÇAS GENÉTICAS, FENÓTIPOS, MALFORMAÇÕES, VARIAÇÃO GENÉTICA, ANORMALIDADES CRANIOFACIAIS
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ABNT
TAVARES, Vanessa Luiza Romanelli et al. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2021-107825. Acesso em: 09 nov. 2024.
APA
Tavares, V. L. R., Guimarães-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. de P., et al. (2021). New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics. doi:10.1136/jmedgenet-2021-107825
NLM
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Vancouver
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Artigo de periodico
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021)
Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J; Atique, Rodrigo; Bertola, Débora R; Cunningham , Michael L; Gustafson, Jonas A; Johnson, David; Morton, Jenny E. V; Passos-Bueno, Maria Rita ; Timberlake, Andre T; Lifton, Richa P; Wall, Steven A; Twigg, Stephen R. F; Maire, Pascal; Wilkie, Andrew O. M
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, DOENÇAS CONGÊNITAS, MUTAÇÃO GENÉTICA
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CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 09 nov. 2024.
APA
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459
NLM
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Vancouver
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Artigo de periodico
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly (2018)
Oliveira, Danyllo; Leal, Gabriela Ferraz; Sertié, Andréa L; Caires Jr, Luiz Carlos; Goulart, Ernesto ; Musso, Camila Manso; Oliveira, João Ricardo Mendes de; Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M ; Zatz, Mayana
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: MICROCEFALIA, EXPRESSÃO GÊNICA, DOENÇAS GENÉTICAS, CRESCIMENTO E DESENVOLVIMENTO, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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OLIVEIRA, Danyllo et al. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, p. 1-5, 2018Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2018-105471. Acesso em: 09 nov. 2024.
APA
Oliveira, D., Leal, G. F., Sertié, A. L., Caires Jr, L. C., Goulart, E., Musso, C. M., et al. (2018). 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, 1-5. doi:10.1136/jmedgenet-2018-105471
NLM
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471
Vancouver
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471
Artigo de periodico
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family (2015)
Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana ; Kok, Fernando; Santos, Silvana
Fonte: Journal of Medical Genetics. Unidades: IB, FM
Assuntos: DEFICIÊNCIA MENTAL, GENÉTICA MÉDICA, GENÉTICA MOLECULAR, MUTAÇÃO GENÉTICA
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ABNT
FIGUEIREDO, Thalita et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, v. 52, n. 2, p. 123-127, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2014-102793. Acesso em: 09 nov. 2024.
APA
Figueiredo, T., Melo, U. S., Pessoa, A. L. S., Nobrega, P. R., Kitajima, J. P., Correa, I., et al. (2015). Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, 52( 2), 123-127. doi:10.1136/jmedgenet-2014-102793
NLM
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793
Vancouver
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793
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
Fonte: Journal of Medical Genetics. Unidades: FM, IB
Assuntos: ESTUDOS DE COORTES, ESTATÍSTICA (MÉTODOS), ANORMALIDADES CARDIOVASCULARES, ANORMALIDADES CRANIOFACIAIS
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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
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (2014)
Bear, Kelly A.; Solomon, Benjamin D.; Antonini, Sonir; Arnhold, Ivo J. P.; França, Marcela M.; Gerkes, Erica H.; Grange, Dorothy K.; Hadley, Donald W.; Jääskeläinen, Jarmo; Paulo, Sabrina S.; Rump, Patrick; Stratakis, Constantine A.; Thompson, Elizabeth M.; Willis, Mary; Winder, Thomas L.; Jorge, Alexander A. L.; Roessler, Erich; Muenke, Maximilian
Fonte: Journal of Medical Genetics. Unidade: FM
Assuntos: FENÓTIPOS, MUTAÇÃO GENÉTICA, NEUROANATOMIA (ANOMALAIS), HOLOPROSENCEFALIA
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ABNT
BEAR, Kelly A. et al. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, v. 51, n. 6, p. 413-418, 2014Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2013-102249. Acesso em: 09 nov. 2024.
APA
Bear, K. A., Solomon, B. D., Antonini, S., Arnhold, I. J. P., França, M. M., Gerkes, E. H., et al. (2014). Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, 51( 6), 413-418. doi:10.1136/jmedgenet-2013-102249
NLM
Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249
Vancouver
Bear KA, Solomon BD, Antonini S, Arnhold IJP, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AAL, Roessler E, Muenke M. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly [Internet]. Journal of Medical Genetics. 2014 ; 51( 6): 413-418.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2013-102249
Artigo de periodico
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)
Molin, A. M; Andrieux, J; Koolen, D. A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; Leeuw, N de; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, Fernando; Krepischi, Ana Cristina Victorino ; Le Caignec, C; Mackie Ogilvie, C; Maia, S; Mathieu-Dramard, M; Minnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling,L; Rosenberg, Carla ; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: RETARDO MENTAL, GENÓTIPOS, FENÓTIPOS, ANOMALIA FACIAL, GENÉTICA MÉDICA
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ABNT
MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 09 nov. 2024.
APA
Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534
NLM
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Vancouver
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Artigo de periodico
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2012)
Klopocki, Eva; Lohan, Silke; Doelken Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Aguiar, Renata Soares Thiele de; Lezirovitz, Karina; Mingroni Netto, Regina Celia ; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordaß, Ulrike; Hempel, Maja; Rajab, Anna; Mäkitie, Outi; Naveed, Mohammed; Radhakrishna, Uppala; Antonarakis, Stylianos E
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: MALFORMAÇÕES, DOENÇAS GENÉTICAS, GENÉTICA MÉDICA
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ABNT
KLOPOCKI, Eva et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, v. 49, n. 2, p. 119-125, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100409. Acesso em: 09 nov. 2024.
APA
Klopocki, E., Lohan, S., Doelken Sandra C,, Stricker, S., Ockeloen, C. W., Aguiar, R. S. T. de, et al. (2012). Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics, 49( 2), 119-125. doi:10.1136/jmedgenet-2011-100409
NLM
Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100409
Vancouver
Klopocki E, Lohan S, Doelken Sandra C, Stricker S, Ockeloen CW, Aguiar RST de, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 119-125.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100409
Artigo de periodico
Genomic imbalances associated with müllerian aplasia (2008)
Cheroki, Carola; Krepischi, Ana Cristina Victorino ; Szuhai, K; Brenner, V; Kim, Chong Ae; Otto, Paulo A ; Rosenberg, Carla
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: AGENESIA, GENÉTICA
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ABNT
CHEROKI, Carola et al. Genomic imbalances associated with müllerian aplasia. Journal of Medical Genetics, v. 45, p. 228-232, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2007.051839. Acesso em: 09 nov. 2024.
APA
Cheroki, C., Krepischi, A. C. V., Szuhai, K., Brenner, V., Kim, C. A., Otto, P. A., & Rosenberg, C. (2008). Genomic imbalances associated with müllerian aplasia. Journal of Medical Genetics, 45, 228-232. doi:10.1136/jmg.2007.051839
NLM
Cheroki C, Krepischi ACV, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Genomic imbalances associated with müllerian aplasia [Internet]. Journal of Medical Genetics. 2008 ; 45 228-232.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2007.051839
Vancouver
Cheroki C, Krepischi ACV, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Genomic imbalances associated with müllerian aplasia [Internet]. Journal of Medical Genetics. 2008 ; 45 228-232.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2007.051839
Artigo de periodico
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008)
Koolen, D. A.; Sharp, A. J.; Hurst, J. A.; Firth, Helen V.; Knight, S. J. L.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.; Vissers, L. E. L. M.; Destrée, A.; Grisart, B.; Rooms, L.; Van der Aa, N.; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M. J. M.; Mancini, G. M. S.; Poddighe, P. J.; Schwartz, C. E.; Rossi, E.; De Gregori, M.; Antonacci-Fulton, L. L.; McLellan II, M. D.; Garrett, J. M.; Wiechert, M A; Miner, T. L.; Crosby, S.; Ciccone, R; Willatt, Lionel; Rauch, A.; Zenker, Martin; Aradhya, S.; Manning, M. A.; Strom, T. M.; Wagenstaller, J.; Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Price, S. M.; Stewart, H; Shaw-Smith, Charles; Brunner, H. G.; Wilkie, A. O. M.; Veltman, J. A.; Zuffardi, O.; Eichler, E. E.; Vries, B. B. A.
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: DOENÇAS GENÉTICAS, GENOMAS
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ABNT
KOOLEN, D. A. et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, v. 45, n. 11, p. 710-720, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2008.058701. Acesso em: 09 nov. 2024.
APA
Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., et al. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 45( 11), 710-720. doi:10.1136/jmg.2008.058701
NLM
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJM, Mancini GMS, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan II MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi ACV, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AOM, Veltman JA, Zuffardi O, Eichler EE, Vries BBA. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome [Internet]. Journal of Medical Genetics. 2008 ; 45( 11): 710-720.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2008.058701
Vancouver
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJM, Mancini GMS, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan II MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi ACV, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AOM, Veltman JA, Zuffardi O, Eichler EE, Vries BBA. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome [Internet]. Journal of Medical Genetics. 2008 ; 45( 11): 710-720.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2008.058701
Artigo de periodico
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 (2008)
Jehee, Fernanda Sarquis; Krepischi, Ana Cristina Victorino ; Rocha, K. M.; Cavalcanti, D. P.; Kim, C. A.; Bertola, Débora Romeo; Alonso, Luís Garcia; D'Angelo, C. S.; Mazzeu, Juliana Forte; Froyen, Guy; Lugtenberg, D.; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Passos-Bueno, Maria Rita
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS
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ABNT
JEHEE, Fernanda Sarquis et al. 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, v. 45, n. 7, p. 447-450, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2007.057042. Acesso em: 09 nov. 2024.
APA
Jehee, F. S., Krepischi, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., et al. (2008). 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, 45( 7), 447-450. doi:10.1136/jmg.2007.057042
NLM
Jehee FS, Krepischi ACV, 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. 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 [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2007.057042
Vancouver
Jehee FS, Krepischi ACV, 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. 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 [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2007.057042
Artigo de periodico
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents (2006)
Rosenberg, Carla ; Knijnenburg, Jeroen; Bakker, E; Vianna-Morgante, Angela M ; Sloos, W.; Otto, Paulo A ; Kriek, M.; Hansson, K.; Krepischi, Ana Cristina Victorino ; Fiegler, H.; Carter, N. P.; Bijlsma, E. K.; Van Haeringen, A.; Szuhai, K.; Tanke, H. J.
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: RETARDO MENTAL, DOENÇAS GENÉTICAS
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ABNT
ROSENBERG, Carla et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Journal of Medical Genetics, v. 43, p. 180-186, 2006Tradução . . Disponível em: https://doi.org/10.1136/jmg.2005.032268. Acesso em: 09 nov. 2024.
APA
Rosenberg, C., Knijnenburg, J., Bakker, E., Vianna-Morgante, A. M., Sloos, W., Otto, P. A., et al. (2006). Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Journal of Medical Genetics, 43, 180-186. doi:10.1136/jmg.2005.032268
NLM
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi ACV, Fiegler H, Carter NP, Bijlsma EK, Van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents [Internet]. Journal of Medical Genetics. 2006 ; 43 180-186.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2005.032268
Vancouver
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi ACV, Fiegler H, Carter NP, Bijlsma EK, Van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents [Internet]. Journal of Medical Genetics. 2006 ; 43 180-186.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2005.032268
Artigo de periodico
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy (2005)
Lampe, A. K.; Dunn, D. M.; Niederhausern, A. C. van; Hamil, C.; Aoyagi, A.; Laval, S. H.; Marie, S. K.; Chu, M.-L.; Swoboda, K.; Muntoni, F.; Bonnemann, C. G.; Flanigan, K. M.; Bushby, K. M. D.; Weiss, R. B.
Fonte: Journal of Medical Genetics. Unidade: FM
Assuntos: GENOMAS, COLÁGENO, ANÁLISE SEQUENCIAL, DISTROFIA MUSCULAR (CONGÊNITO)
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ABNT
LAMPE, A. K. et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics, v. 42, p. 108-120, 2005Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.023754. Acesso em: 09 nov. 2024.
APA
Lampe, A. K., Dunn, D. M., Niederhausern, A. C. van, Hamil, C., Aoyagi, A., Laval, S. H., et al. (2005). Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics, 42, 108-120. doi:10.1136/jmg.2004.023754
NLM
Lampe AK, Dunn DM, Niederhausern AC van, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KMD, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy [Internet]. Journal of Medical Genetics. 2005 ; 42 108-120.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.023754
Vancouver
Lampe AK, Dunn DM, Niederhausern AC van, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KMD, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy [Internet]. Journal of Medical Genetics. 2005 ; 42 108-120.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.023754
Artigo de periodico
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts (2005)
Sharp, A. M.; Messiaen, L. M.; Page, G.; Gubler, M-C; Antignac, C.; Onuchic, Luiz Fernando; Somlo, S.; Germino, G. G.; Guay-Woodford, L. M.
Fonte: Journal of Medical Genetics. Unidade: FM
Assuntos: GENOMAS (ANÁLISE), NEFROPATIAS (GENÉTICA), MUTAÇÃO GENÉTICA, POLIMORFISMO
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ABNT
SHARP, A. M. et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, v. 42, p. 336-349, 2005Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.024489. Acesso em: 09 nov. 2024.
APA
Sharp, A. M., Messiaen, L. M., Page, G., Gubler, M. -C., Antignac, C., Onuchic, L. F., et al. (2005). Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, 42, 336-349. doi:10.1136/jmg.2004.024489
NLM
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.024489
Vancouver
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.024489
Artigo de periodico
Inhibin alfa-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers (2004)
Longui, C. A.; Marini, S. H. V. Lemos; Figueiredo, B.; Mendonça, B. B.; Castro, M.; Liberatore Junior, R.; Watanabe, C.; Lancelotti, C. L. P.; Rocha, M. N.; Melo, M. B.; Monte, O.; Calliari, L. E. P.; Guerra Junior, G.; Baptista, M. T. M.; Sbragia Neto, L.; Latronico, A. C.; Moreira, A.; Tardelli, A. M. D.; Nigri, A.; Taymans, S. E.; Stratakis, C. A.
Fonte: Journal of Medical Genetics. Unidades: FM, FMRP
Assunto: NEOPLASIAS
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ABNT
LONGUI, C. A. et al. Inhibin alfa-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers. Journal of Medical Genetics, v. 41, n. Ja 2004, p. 354-359, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.018978. Acesso em: 09 nov. 2024.
APA
Longui, C. A., Marini, S. H. V. L., Figueiredo, B., Mendonça, B. B., Castro, M., Liberatore Junior, R., et al. (2004). Inhibin alfa-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers. Journal of Medical Genetics, 41( Ja 2004), 354-359. doi:10.1136/jmg.2004.018978
NLM
Longui CA, Marini SHVL, Figueiredo B, Mendonça BB, Castro M, Liberatore Junior R, Watanabe C, Lancelotti CLP, Rocha MN, Melo MB, Monte O, Calliari LEP, Guerra Junior G, Baptista MTM, Sbragia Neto L, Latronico AC, Moreira A, Tardelli AMD, Nigri A, Taymans SE, Stratakis CA. Inhibin alfa-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers [Internet]. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 354-359.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.018978
Vancouver
Longui CA, Marini SHVL, Figueiredo B, Mendonça BB, Castro M, Liberatore Junior R, Watanabe C, Lancelotti CLP, Rocha MN, Melo MB, Monte O, Calliari LEP, Guerra Junior G, Baptista MTM, Sbragia Neto L, Latronico AC, Moreira A, Tardelli AMD, Nigri A, Taymans SE, Stratakis CA. Inhibin alfa-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers [Internet]. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 354-359.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2004.018978
Artigo de periodico
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype (2004)
Tonini, M. M. O; Pavanello, R C M; Gurgel-Giannetti, J; Lemmers, R J; Maarel, S M van der; Frants, R R; Zatz, Mayana
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS MUSCULOSQUELÉTICAS, DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TONINI, M. M. O et al. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. Journal of Medical Genetics, v. 41, n. 2, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2003.010637. Acesso em: 09 nov. 2024.
APA
Tonini, M. M. O., Pavanello, R. C. M., Gurgel-Giannetti, J., Lemmers, R. J., Maarel, S. M. van der, Frants, R. R., & Zatz, M. (2004). Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. Journal of Medical Genetics, 41( 2). doi:10.1136/jmg.2003.010637
NLM
Tonini MMO, Pavanello RCM, Gurgel-Giannetti J, Lemmers RJ, Maarel SM van der, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype [Internet]. Journal of Medical Genetics. 2004 ; 41( 2):[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2003.010637
Vancouver
Tonini MMO, Pavanello RCM, Gurgel-Giannetti J, Lemmers RJ, Maarel SM van der, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype [Internet]. Journal of Medical Genetics. 2004 ; 41( 2):[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2003.010637
Artigo de periodico
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 (2004)
Takata, R I; Martins, C E Speck; Passosbueno, M R ; Abe, K. T; Nishimura, A L; Silva, M Dorvalina Da; Monteiro Jr., A; Lima, M I; Kok, F ; Zatz, Mayana
Fonte: Journal of Medical Genetics. Unidades: IB, FM
Assuntos: ATROFIA MUSCULAR, DOENÇAS NEUROMUSCULARES, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TAKATA, R I et al. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, v. 41, p. 224-229, 2004Tradução . . Disponível em: https://doi.org/10.1136/jmg.2003.013201. Acesso em: 09 nov. 2024.
APA
Takata, R. I., Martins, C. E. S., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Silva, M. D. D., et al. (2004). A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21. Journal of Medical Genetics, 41, 224-229. doi:10.1136/jmg.2003.013201
NLM
Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2003.013201
Vancouver
Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Silva MDD, Monteiro Jr. A, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 [Internet]. Journal of Medical Genetics. 2004 ; 41 224-229.[citado 2024 nov. 09 ] Available from: https://doi.org/10.1136/jmg.2003.013201
Artigo de periodico
TBX22 mutations are a frequent cause of cleft palate (2004)
Marçano, Ana Carolina Braga; Doudney, K.; Braybrook, C.; Squires, R.; Patton, M. A.; Lees, M. M.; Richieri-Costa, Antonio; Lidral, Andrew C.; Murray, Jeffrey C.; Moore, G.E.; Stanier, P.
Fonte: Journal of Medical Genetics. Unidade: HRAC
Assuntos: MUTAÇÃO GENÉTICA, FISSURA PALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MARÇANO, Ana Carolina Braga et al. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, v. 41, n. Ja 2004, p. 68-74, 2004Tradução . . Acesso em: 09 nov. 2024.
APA
Marçano, A. C. B., Doudney, K., Braybrook, C., Squires, R., Patton, M. A., Lees, M. M., et al. (2004). TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, 41( Ja 2004), 68-74.
NLM
Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 nov. 09 ]
Vancouver
Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 nov. 09 ]
Artigo de periodico
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12] (2003)
Moreira, E. S.; Vainzof, Mariz ; Suzuki, Oscar T.; Pavanello, Rita de Cássia M.; Zatz, Mayana ; Passos-Bueno, Maria Rita
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOREIRA, E. S. et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics, v. 40, p. e12, 2003Tradução . . Acesso em: 09 nov. 2024.
APA
Moreira, E. S., Vainzof, M., Suzuki, O. T., Pavanello, R. de C. M., Zatz, M., & Passos-Bueno, M. R. (2003). Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics, 40, e12.
NLM
Moreira ES, Vainzof M, Suzuki OT, Pavanello R de CM, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics. 2003 ; 40 e12.[citado 2024 nov. 09 ]
Vancouver
Moreira ES, Vainzof M, Suzuki OT, Pavanello R de CM, Zatz M, Passos-Bueno MR. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]. Journal of Medical Genetics. 2003 ; 40 e12.[citado 2024 nov. 09 ]
Artigo de periodico-carta/editorial
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter] (2002)
Splendore, Alessandra; Jabs, E. W.; Passos-Bueno, Maria Rita
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: GENÉTICA MÉDICA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SPLENDORE, Alessandra e JABS, E. W. e PASSOS-BUENO, Maria Rita. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 09 nov. 2024. , 2002
APA
Splendore, A., Jabs, E. W., & Passos-Bueno, M. R. (2002). Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. London: Instituto de Biociências, Universidade de São Paulo.
NLM
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2024 nov. 09 ]
Vancouver
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]. Journal of Medical Genetics. 2002 ; 39( 7): 493-495.[citado 2024 nov. 09 ]

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