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Artigo de periodico
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil (2024)
Migliavacca, Michele P ; Sobreira, Joselito ; Bermeo, Diana; Gomes, Mireille; Alencar, Dayse; Sussuchi, Luciane; Souza, Camila Alves; Silva, Juliana Santos; Kroll, José Eduardo; Burger, Matheus; Sousa, Rodrigo Guarischi ; Villela, Darine ; Yamamoto, Guilherme L ; Milanezi, Fernanda ; Horigoshi, Nelson; Cesar, Regina Grigolli; Carvalho, Werther Brunow de ; Honjo, Rachel Sayuri ; Bertola, Débora Romeo ; Kim, Chong Ae ; Souza, Lucian de; Procianoy, Renato S; Silveria, Rita C; Rosenberg, Carla ; Giugliani, Roberto ; Campana, Gustavo Aguiar; Scapulatempo-Neto, Cristovam ; Sobreira, Nara
Source: American Journal of Medical Genetics. Part A. Unidades: BIOINFORMÁTICA, FM, IB
Subjects: PEDIATRIA, SEQUENCIAMENTO GENÉTICO, DOENÇAS DO RECÉM-NASCIDO
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ABNT
MIGLIAVACCA, Michele P et al. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil. American Journal of Medical Genetics. Part A, n. ja, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63544. Acesso em: 25 maio 2024.
APA
Migliavacca, M. P., Sobreira, J., Bermeo, D., Gomes, M., Alencar, D., Sussuchi, L., et al. (2024). Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil. American Journal of Medical Genetics. Part A, (ja). doi:10.1002/ajmg.a.63544
NLM
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Sousa RG, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, Carvalho WB de, Honjo RS, Bertola DR, Kim CA, Souza L de, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil [Internet]. American Journal of Medical Genetics. Part A. 2024 ;(ja):[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63544
Vancouver
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Sousa RG, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, Carvalho WB de, Honjo RS, Bertola DR, Kim CA, Souza L de, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil [Internet]. American Journal of Medical Genetics. Part A. 2024 ;(ja):[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63544
Artigo de periodico
Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature (2023)
Serigatto, Henrique Regonaschi ; Kokitsu-Nakata, Nancy Mizue ; Vendramini-Pittoli, Siulan ; Tonello, Cristiano ; Moura, Priscila Padilha; Peixoto, Adriano Porto ; Gomes, Luiz Paulo; Zechi-Ceide, Roseli Maria
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, FOB, HRACF
Subjects: FISSURA PALATINA, ASSIMETRIA FACIAL, FENÓTIPOS
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ABNT
SERIGATTO, Henrique Regonaschi et al. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature. American Journal of Medical Genetics. Part A, v. No 2023, n. 11, p. 2493-2507, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63319. Acesso em: 25 maio 2024.
APA
Serigatto, H. R., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Tonello, C., Moura, P. P., Peixoto, A. P., et al. (2023). Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature. American Journal of Medical Genetics. Part A, No 2023( 11), 2493-2507. doi:10.1002/ajmg.a.63319
NLM
Serigatto HR, Kokitsu-Nakata NM, Vendramini-Pittoli S, Tonello C, Moura PP, Peixoto AP, Gomes LP, Zechi-Ceide RM. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature [Internet]. American Journal of Medical Genetics. Part A. 2023 ; No 2023( 11): 2493-2507.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63319
Vancouver
Serigatto HR, Kokitsu-Nakata NM, Vendramini-Pittoli S, Tonello C, Moura PP, Peixoto AP, Gomes LP, Zechi-Ceide RM. Oculoauriculofrontonasal syndrome review: refining the phenotype through a new case series and literature [Internet]. American Journal of Medical Genetics. Part A. 2023 ; No 2023( 11): 2493-2507.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63319
Artigo de periodico
SCAF4-related syndromic intellectual disability (2023)
Carvalho, Laura Machado Lara ; Pinto, Carla Franchi; Scliar, Marília de Oliveira; Otto, Paulo A ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: GENÉTICA, PESSOAS COM DEFICIÊNCIA INTELECTUAL, GENES
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ABNT
CARVALHO, Laura Machado Lara et al. SCAF4-related syndromic intellectual disability. American Journal of Medical Genetics. Part A, v. 191, n. 2, p. 570-574, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63032. Acesso em: 25 maio 2024.
APA
Carvalho, L. M. L., Pinto, C. F., Scliar, M. de O., Otto, P. A., Krepischi, A. C. V., & Rosenberg, C. (2023). SCAF4-related syndromic intellectual disability. American Journal of Medical Genetics. Part A, 191( 2), 570-574. doi:10.1002/ajmg.a.63032
NLM
Carvalho LML, Pinto CF, Scliar M de O, Otto PA, Krepischi ACV, Rosenberg C. SCAF4-related syndromic intellectual disability [Internet]. American Journal of Medical Genetics. Part A. 2023 ; 191( 2): 570-574.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63032
Vancouver
Carvalho LML, Pinto CF, Scliar M de O, Otto PA, Krepischi ACV, Rosenberg C. SCAF4-related syndromic intellectual disability [Internet]. American Journal of Medical Genetics. Part A. 2023 ; 191( 2): 570-574.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63032
Artigo de periodico
Updated consensus guidelines on the management of Phelan–McDermid syndrome (2023)
Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D ; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey ; Bernstein, Jonathan A ; Asante-Otoo, Afua; Bennett Jr, William E; Betancur, Catalina ; Brickhouse, Tegwyn H; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: GENÉTICA MÉDICA, NEUROGENÉTICA
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ABNT
SRIVASTAVA, Siddharth et al. Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, v. 191, n. 8, p. 2015-2044, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63312. Acesso em: 25 maio 2024.
APA
Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., et al. (2023). Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, 191( 8), 2015-2044. doi:10.1002/ajmg.a.63312
NLM
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Vancouver
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Artigo de periodico-carta/editorial
FMR1 premutation in children with autism spectrum disorders: should additional diagnostic tests be performed? (2022)
Girardi, Ana Cristina De Sanctis ; Takahashi, Vanessa Naomi Van Opstal ; Vadasz, Estêvão ; Costa, Claudia Ismania Samogi ; Zachi, Elaine Cristina; Vianna-Morgante, Angela M ; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Part A. Unidades: IB, IP
Subjects: TRANSTORNO AUTÍSTICO, CRIANÇAS AUTISTAS
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ABNT
GIRARDI, Ana Cristina De Sanctis et al. FMR1 premutation in children with autism spectrum disorders: should additional diagnostic tests be performed?. American Journal of Medical Genetics. Part A. Hoboken, NJ: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/ajmg.a.62624. Acesso em: 25 maio 2024. , 2022
APA
Girardi, A. C. D. S., Takahashi, V. N. V. O., Vadasz, E., Costa, C. I. S., Zachi, E. C., Vianna-Morgante, A. M., & Passos-Bueno, M. R. (2022). FMR1 premutation in children with autism spectrum disorders: should additional diagnostic tests be performed? American Journal of Medical Genetics. Part A. Hoboken, NJ: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/ajmg.a.62624
NLM
Girardi ACDS, Takahashi VNVO, Vadasz E, Costa CIS, Zachi EC, Vianna-Morgante AM, Passos-Bueno MR. FMR1 premutation in children with autism spectrum disorders: should additional diagnostic tests be performed? [Internet]. American Journal of Medical Genetics. Part A. 2022 ;188( 4): 1334-1337.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.62624
Vancouver
Girardi ACDS, Takahashi VNVO, Vadasz E, Costa CIS, Zachi EC, Vianna-Morgante AM, Passos-Bueno MR. FMR1 premutation in children with autism spectrum disorders: should additional diagnostic tests be performed? [Internet]. American Journal of Medical Genetics. Part A. 2022 ;188( 4): 1334-1337.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.62624
Artigo de periodico
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses (2021)
Villela, Darine ; Mazzonetto, Patricia C; Migliavacca, Michele P; Perrone, Eduardo; Guida, Gustavo; Milanezi, Maria Fernanda G; Jorge, Alexander A. L ; Ribeiro-Bicudo, Lucilene A ; Kok, Fernando ; Campagnari, Francine; Rosso-Giuliani, Liane de; Costa, Silvia Souza da; Vianna-Morgante, Angela M ; Pearson, Peter L; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidades: FM, IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS CONGÊNITAS, ANORMALIDADES CROMOSSÔMICAS, TRANSTORNO AUTÍSTICO
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ABNT
VILLELA, Darine et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, v. 185, n. 8, p. 2335-2344, 2021Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62237. Acesso em: 25 maio 2024.
APA
Villela, D., Mazzonetto, P. C., Migliavacca, M. P., Perrone, E., Guida, G., Milanezi, M. F. G., et al. (2021). Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, 185( 8), 2335-2344. doi:10.1002/ajmg.a.62237
NLM
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Vancouver
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Artigo de periodico
Turner syndrome in diverse populations (2020)
Kruszka, Paul ; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L ; Savage, Sarah K.; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H. W; Paththinige, C. Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M ; Patil, Siddaramappa Jagdish ; Jamuar, Saumya Shekhar ; Goh, Jasmine Chew-Yin; Utari, Agustini ; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C.; Lulseged, Ezana; Megarbane, Andre ; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M.; Thong, Meow-Keong; Tung, Joanna Y. L; Mok, Gary T. K; Fleischer, Nicole; Rwegerera, Godfrey M; Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A ; Ashaat, Engy A. ; Chung, Brian H. Y; Badoe, Eben; Faradz, Sultana M. H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R; Richieri-Costa, Antonio ; Muenke, Maximilian
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANÁLISE FACIAL, GENÉTICA DE POPULAÇÕES, FENÓTIPOS, ANORMALIDADES CONGÊNITAS, SÍNDROME DE NOONAN
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ABNT
KRUSZKA, Paul et al. Turner syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 182A, n. 2, p. 303-313, 2020Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.61461. Acesso em: 25 maio 2024.
APA
Kruszka, P., Addissie, Y. A., Tekendo-Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., et al. (2020). Turner syndrome in diverse populations. American Journal of Medical Genetics. Part A, 182A( 2), 303-313. doi:10.1002/ajmg.a.61461
NLM
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC-Y, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong M-K, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.61461
Vancouver
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC-Y, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong M-K, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.61461
Artigo de periodico
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype (2017)
Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos-Bueno, Maria Rita ; Kim, Chong Ae
Source: American Journal of Medical Genetics. Part A. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, FENÓTIPOS, CROMOSSOMO X, PERDA AUDITIVA, ANORMALIDADES CRANIOFACIAIS, OSSOS FACIAIS, FISSURA PALATINA, DOENÇAS GENÉTICAS
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ABNT
BERTOLA, Débora et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, v. 173, n. 3, p. 524-828, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38070. Acesso em: 25 maio 2024.
APA
Bertola, D., Yamamoto, G., Buscarilli, M., Jorge, A., Passos-Bueno, M. R., & Kim, C. A. (2017). The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, 173( 3), 524-828. doi:10.1002/ajmg.a.38070
NLM
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Vancouver
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Artigo de periodico
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins (2017)
Jehee, Fernanda S; Oliveira, Valdirene T. de; Gurgel Giannetti, Juliana; Pietra, Rafaella X; Rubatino, Fernando V. M; Carobin, Natália V; Vianna, Gabrielle S; Freitas, Mariana L. de; Fernandes, Karla S; Ribeiro, Beatriz S. V; Brüggenwirth, Hennie T; Ali-Amin, Roza; White, Janson J; Akdemir, Zeynep C; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R; Varela, Monica C; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla ; Carvalho, Cláudia M. B
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, GENÉTICA MÉDICA, DELEÇÃO DE GENES, FENÓTIPOS, OBESIDADE, RETARDO MENTAL
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ABNT
JEHEE, Fernanda S et al. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38315. Acesso em: 25 maio 2024.
APA
Jehee, F. S., Oliveira, V. T. de, Gurgel Giannetti, J., Pietra, R. X., Rubatino, F. V. M., Carobin, N. V., et al. (2017). Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, 1-5. doi:10.1002/ajmg.a.38315
NLM
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38315
Vancouver
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38315
Artigo de periodico
22q11.2 deletion syndrome in diverse populations (2017)
Kruszka, Paul; Addissie, Yonit A.; McGinn, Daniel E.; Porras, Antonio R.; Biggs, Elijah; Share, Matthew; Crowley, T. Blaine; Chung, Brian H. Y.; Mok, Gary T. K.; Mak, Christopher C. Y.; Muthukumarasamy, Premala; Thong, Meow-Keong; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Prabodha, L. B. Lahiru; Mishra, Rupesh; Shotelersuk, Vorasuk; Ekure, Ekanem Nsikak; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Ferreira, Carlos R.; Duncan, Jordann-Mishael; Patil, Siddaramappa Jagdish; Jones, Kelly L.; Kaplan, Julie D.; Abdul-Rahman, Omar A.; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Richieri-Costa, Antonio; Gil-da-Silva-Lopes, Vera Lúcia; Adeyemo, Adebowale A.; Summar, Marshall; Zackai, Elaine H.; McDonald-McGinn, Donna M.; Linguraru, Marius George; Muenke, Maximilian
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANÁLISE FACIAL, FENÓTIPOS, ANÁLISE FACIAL
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ABNT
KRUSZKA, Paul et al. 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 173, n. 4, p. 879-888, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38199. Acesso em: 25 maio 2024.
APA
Kruszka, P., Addissie, Y. A., McGinn, D. E., Porras, A. R., Biggs, E., Share, M., et al. (2017). 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173( 4), 879-888. doi:10.1002/ajmg.a.38199
NLM
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BHY, Mok GTK, Mak CCY, Muthukumarasamy P, Thong M-K, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan J-M, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 4): 879-888.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38199
Vancouver
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BHY, Mok GTK, Mak CCY, Muthukumarasamy P, Thong M-K, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan J-M, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 4): 879-888.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38199
Artigo de periodico
Down Syndrome in diverse populations (2017)
Kruszka, Paul; Porras, Antonio R.; Sobering, Andrew K.; Ikolo, Felicia A.; Qua, Samantha La; Shotelersuk, Vorasuk; Chung, Brian H. Y.; Mok, Gary T. K.; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Joseph, Daniel Akinsanya; Ikebudu, Desmond; Ugwu, Christopher Emeka; Okoromah, Christy A. N.; Addissie, Yonit A.; Pardo, Katherine L.; Brough, J. Joseph; Lee, Ni-Chung; Girisha, Katta M.; Patil, Siddaramappa Jagdish; Ng, Ivy S. L.; Min, Breana Cham Wen; Jamuar, Saumya S.; Tibrewal, Shailja; Wallang, Batriti; Ganesh, Suma; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Prabodha, L. B. Lahiru; Richieri-Costa, Antonio; Muthukumarasamy, Premala; Thong, Meow-Keong; Jones, Kelly L.; Abdul-Rahman, Omar A.; Ekure, Ekanem Nsikak; Adeyemo, Adebowale A.; Summar, Marshall; Linguraru, Marius George; Muenke, Maximilian
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assunto: SÍNDROME DE DOWN
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ABNT
KRUSZKA, Paul et al. Down Syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 173, n. Ja/2017, p. 42-53, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38043. Acesso em: 25 maio 2024.
APA
Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., Qua, S. L., Shotelersuk, V., et al. (2017). Down Syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173( Ja/2017), 42-53. doi:10.1002/ajmg.a.38043
NLM
Kruszka P, Porras AR, Sobering AK, Ikolo FA, Qua SL, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ, Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richieri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down Syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( Ja/2017): 42-53.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38043
Vancouver
Kruszka P, Porras AR, Sobering AK, Ikolo FA, Qua SL, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ, Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richieri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down Syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( Ja/2017): 42-53.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.38043
Artigo de periodico
Noonan syndrome in diverse populations (2017)
Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A.; Moresco, Angélica; Medrano, Sofia; Mok, Gary T. K.; Leung, Gordon K. C.; Tekendo-Ngongang, Cedrik; Uwineza, Annette; Thong, Meow-Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N.; Sokunbi, Ogochukwu J.; Kalu, Nnenna; Jones, Kelly L.; Kaplan, Julie D.; Abdul-Rahman, Omar A.; Vincent, Lisa M.; Love, Amber; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Shukla, Anju; Girisha, Katta M.; Patil, Siddaramappa J.; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Mishra, Rupesh; Klein-Zighelboim, Eva; Jugo, Bertha E. Gallardo; Pastor, Miguel Chávez; Abarca-Barriga, Hugo H.; Skinner, Steven A.; Prijoles, Eloise J.; Badoe, Eben; Gill, Ashleigh D.; Shotelersuk, Vorasuk; Smpokou, Patroula; Kisling, Monisha S.; Ferreira, Carlos R.; Mutesa, Leon; Megarbane, Andre; Kline, Antonie D.; Kimball, Amy; Okello, Emmy; Lwabi, Peter; Aliku, Twalib; Tenywa, Emmanuel; Boonchooduang, Nonglak; Tanpaiboon, Pranoot; Richieri-Costa, Antonio; Wonkam, Ambroise; Chung, Brian H. Y.; Stevenson, Roger E.; Summar, Marshall; Mandal, Kausik; Phadke, Shubha R.; Obregon, María G.; Linguraru, Marius G.; Muenke, Maximilian
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: SÍNDROME DE NOONAN, DELEÇÃO DE GENES, FENÓTIPOS, ANÁLISE FACIAL
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ABNT
KRUSZKA, Paul et al. Noonan syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 173, n. 9, p. 2323-2334, 2017Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38362/epdf. Acesso em: 25 maio 2024.
APA
Kruszka, P., Porras, A. R., Addissie, Y. A., Moresco, A., Medrano, S., Mok, G. T. K., et al. (2017). Noonan syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173( 9), 2323-2334. doi:10.1002/ajmg.a.38362
NLM
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong M-K, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Jugo BEG, Pastor MC, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 9): 2323-2334.[citado 2024 maio 25 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38362/epdf
Vancouver
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong M-K, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Jugo BEG, Pastor MC, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 9): 2323-2334.[citado 2024 maio 25 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38362/epdf
Artigo de periodico
Apert and Crouzon syndromes: cognitive development, brain abnormalities, and molecular aspects (2016)
Fernandes, Marilyse B. L.; Maximino, Luciana P.; Perosa, Gimol B.; Abramides, Dagma V. M.; Passos-Bueno, Maria Rita ; Yacubian-Fernandes, Adriano
Source: American Journal of Medical Genetics. Part A. Unidades: FOB, IB
Subjects: CRANIOSSINOSTOSE, APTIDÃO COGNITIVA, SISTEMA NERVOSO CENTRAL, BIOLOGIA MOLECULAR, DISOSTOSE CRÂNIOFACIAL
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ABNT
FERNANDES, Marilyse B. L. et al. Apert and Crouzon syndromes: cognitive development, brain abnormalities, and molecular aspects. American Journal of Medical Genetics. Part A, v. 176, n. 6, p. 1532-1537, 2016Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.37640. Acesso em: 25 maio 2024.
APA
Fernandes, M. B. L., Maximino, L. P., Perosa, G. B., Abramides, D. V. M., Passos-Bueno, M. R., & Yacubian-Fernandes, A. (2016). Apert and Crouzon syndromes: cognitive development, brain abnormalities, and molecular aspects. American Journal of Medical Genetics. Part A, 176( 6), 1532-1537. doi:10.1002/ajmg.a.37640
NLM
Fernandes MBL, Maximino LP, Perosa GB, Abramides DVM, Passos-Bueno MR, Yacubian-Fernandes A. Apert and Crouzon syndromes: cognitive development, brain abnormalities, and molecular aspects [Internet]. American Journal of Medical Genetics. Part A. 2016 ; 176( 6): 1532-1537.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.37640
Vancouver
Fernandes MBL, Maximino LP, Perosa GB, Abramides DVM, Passos-Bueno MR, Yacubian-Fernandes A. Apert and Crouzon syndromes: cognitive development, brain abnormalities, and molecular aspects [Internet]. American Journal of Medical Genetics. Part A. 2016 ; 176( 6): 1532-1537.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.37640
Artigo de periodico
A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia (2013)
Zechi-Ceide, Roseli Maria ; Moura, Priscila Padilha; Raskin, Salmo; Richieri-Costa, Antonio ; Guion-Almeida, Maria Leine
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Subjects: SÍNDROME DE PIERRE ROBIN, MUTAÇÃO, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZECHI-CEIDE, Roseli Maria et al. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, v. 161, n. 8, p. 2088-2094, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36057. Acesso em: 25 maio 2024.
APA
Zechi-Ceide, R. M., Moura, P. P., Raskin, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2013). A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, 161( 8), 2088-2094. doi:10.1002/ajmg.a.36057
NLM
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.36057
Vancouver
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.36057
Artigo de periodico
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants (2013)
D'Angelo, Carla Sustek; Kohl, Ilana; Varela, Monica Castro; Castro, Cláudia Irene Emílio de; Kim, Chong Ae; Bertola, Débora Romeo; Lourenço, Charles Marques; Perez, Ana Beatriz Alvarez; Koiffmann, Celia Priszkulnik
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: OBESIDADE, ANORMALIDADES CROMOSSÔMICAS, DEFICIÊNCIA MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
D'ANGELO, Carla Sustek et al. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. American Journal of Medical Genetics. Part A, v. 161, n. 3, p. 479-486, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35761. Acesso em: 25 maio 2024.
APA
D'Angelo, C. S., Kohl, I., Varela, M. C., Castro, C. I. E. de, Kim, C. A., Bertola, D. R., et al. (2013). Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. American Journal of Medical Genetics. Part A, 161( 3), 479-486. doi:10.1002/ajmg.a.35761
NLM
D'Angelo CS, Kohl I, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 3): 479-486.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35761
Vancouver
D'Angelo CS, Kohl I, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 3): 479-486.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35761
Artigo de periodico
Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum (2013)
Santos, Pollyanna Almeida Costa dos; Oliveira, Silviene Fabiana de; Freitas, Erika L.; Safatle, Heloisa Pires Neto; Rosenberg, Carla ; Ferrari, Iris; Mazzeu, Juliana Forte
Source: American Journal of Medical Genetics. Part A. Unidades: IB, FMRP
Subjects: DISOSTOSE MANDIBULOFACIAL, DESENVOLVIMENTO CRANIOFACIAL, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Pollyanna Almeida Costa dos et al. Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum. American Journal of Medical Genetics. Part A, v. 164, n. 2, p. 551–553, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36231. Acesso em: 25 maio 2024.
APA
Santos, P. A. C. dos, Oliveira, S. F. de, Freitas, E. L., Safatle, H. P. N., Rosenberg, C., Ferrari, I., & Mazzeu, J. F. (2013). Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum. American Journal of Medical Genetics. Part A, 164( 2), 551–553. doi:10.1002/ajmg.a.36231
NLM
Santos PAC dos, Oliveira SF de, Freitas EL, Safatle HPN, Rosenberg C, Ferrari I, Mazzeu JF. Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 164( 2): 551–553.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.36231
Vancouver
Santos PAC dos, Oliveira SF de, Freitas EL, Safatle HPN, Rosenberg C, Ferrari I, Mazzeu JF. Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 164( 2): 551–553.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.36231
Artigo de periodico
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia (2012)
Simioni, Milena; Vieira, Tarsis Paiva; Sgardioli, Ilária Cristina; Freitas, Érika Lopes; Rosenberg, Carla ; Maurer-Morelli, Cláudia Vianna; Lopes-Cendes, Iscia; Fett-Conte, Agnes Cristina; Lopes, Vera Lúcia Gil da Silva
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: HIBRIDIZAÇÃO, GENÔMICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SIMIONI, Milena et al. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. American Journal of Medical Genetics. Part A, v. 158, n. 11, p. 2905-2910, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35603. Acesso em: 25 maio 2024.
APA
Simioni, M., Vieira, T. P., Sgardioli, I. C., Freitas, É. L., Rosenberg, C., Maurer-Morelli, C. V., et al. (2012). Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. American Journal of Medical Genetics. Part A, 158( 11), 2905-2910. doi:10.1002/ajmg.a.35603
NLM
Simioni M, Vieira TP, Sgardioli IC, Freitas ÉL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Lopes VLG da S. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158( 11): 2905-2910.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35603
Vancouver
Simioni M, Vieira TP, Sgardioli IC, Freitas ÉL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Lopes VLG da S. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158( 11): 2905-2910.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35603
Artigo de periodico
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome (2012)
Nakata, Nancy Mizue Kokitsu ; Petrin, Aline Lourenço; Heard, Jason Paul; Pittoli, Siulan Vendramini Paulovich ; Henkle, Laura E.; Santos, Daniela Vera Cruz dos; Murray, Jeffrey Clark; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Subjects: GENÉTICA MÉDICA, ANORMALIDADES CROMOSSÔMICAS, HEREDITARIEDADE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu et al. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. American Journal of Medical Genetics. Part A, v. 158A, n. 8, p. 2003-2008, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35454. Acesso em: 25 maio 2024.
APA
Nakata, N. M. K., Petrin, A. L., Heard, J. P., Pittoli, S. V. P., Henkle, L. E., Santos, D. V. C. dos, et al. (2012). Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. American Journal of Medical Genetics. Part A, 158A( 8), 2003-2008. doi:10.1002/ajmg.a.35454
NLM
Nakata NMK, Petrin AL, Heard JP, Pittoli SVP, Henkle LE, Santos DVC dos, Murray JC, Richieri-Costa A. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158A( 8): 2003-2008.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35454
Vancouver
Nakata NMK, Petrin AL, Heard JP, Pittoli SVP, Henkle LE, Santos DVC dos, Murray JC, Richieri-Costa A. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158A( 8): 2003-2008.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.35454
Artigo de periodico
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature (2012)
Laus, Ana C.; Baratela, Wagner A. R.; Laureano, Lucimar A. F.; Santos, Silvio A.; Huber, Jair; Ramos, Ester Silveira; Rebelo, Camila C.; Squire, Jeremy A.; Martelli, Lúcia Regina
Source: American Journal of Medical Genetics. Part A. Unidade: FMRP
Subjects: CROMOSSOMOS (ANOMALIAS), ANÁLISE ESPECTRAL, CARIOTIPAGEM, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LAUS, Ana C. et al. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature. American Journal of Medical Genetics. Part A, v. 158 A, n. 4, p. 821-827, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32988. Acesso em: 25 maio 2024.
APA
Laus, A. C., Baratela, W. A. R., Laureano, L. A. F., Santos, S. A., Huber, J., Ramos, E. S., et al. (2012). Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature. American Journal of Medical Genetics. Part A, 158 A( 4), 821-827. doi:10.1002/ajmg.a.32988
NLM
Laus AC, Baratela WAR, Laureano LAF, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli LR. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158 A( 4): 821-827.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.32988
Vancouver
Laus AC, Baratela WAR, Laureano LAF, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli LR. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature [Internet]. American Journal of Medical Genetics. Part A. 2012 ; 158 A( 4): 821-827.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.32988
Artigo de periodico
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? (2009)
Jehee, Fernanda Sarquis; Burin, Beatriz A.; Rocha, Kátia Maria da; Zechi-Ceide, Roseli Maria; Bueno, Daniela F.; Brito, Luciano; Souza, Josiane; Leal, Gabriela Ferraz; Richieri-Costa, Antonio; Alonso, Nivaldo; Otto, Paulo A ; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Subjects: MALFORMAÇÕES, LÁBIO FISSURADO, PALATO
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ABNT
JEHEE, Fernanda Sarquis et al. 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, v. 149A, n. 6, p. 1319-1322, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32849. Acesso em: 25 maio 2024.
APA
Jehee, F. S., Burin, B. A., Rocha, K. M. da, Zechi-Ceide, R. M., Bueno, D. F., Brito, L., et al. (2009). 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, 149A( 6), 1319-1322. doi:10.1002/ajmg.a.32849
NLM
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Vancouver
Jehee FS, Burin BA, Rocha KM da, Zechi-Ceide RM, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1319-1322.[citado 2024 maio 25 ] Available from: https://doi.org/10.1002/ajmg.a.32849

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