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Artigo de periodico
Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome (2024)
Kokitsu-Nakata, Nancy Mizue ; Segarra, Vinicius Contrucci Dantas ; Tonello, Cristiano ; Brandão, Michele Madeira ; Alonso, Nivaldo ; Zechi-Ceide, Roseli Maria
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, FOB, HRACF
Assuntos: HIPOGONADISMO, ANORMALIDADES CRANIOFACIAIS
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ABNT
KOKITSU-NAKATA, Nancy Mizue et al. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome. American Journal of Medical Genetics. Part A, v. 194, n. 10, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63640. Acesso em: 04 nov. 2024.
APA
Kokitsu-Nakata, N. M., Segarra, V. C. D., Tonello, C., Brandão, M. M., Alonso, N., & Zechi-Ceide, R. M. (2024). Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome. American Journal of Medical Genetics. Part A, 194( 10). doi:10.1002/ajmg.a.63640
NLM
Kokitsu-Nakata NM, Segarra VCD, Tonello C, Brandão MM, Alonso N, Zechi-Ceide RM. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 10):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63640
Vancouver
Kokitsu-Nakata NM, Segarra VCD, Tonello C, Brandão MM, Alonso N, Zechi-Ceide RM. Hemiarhinia caused by a missense variation in SMCHD1: a mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 10):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63640
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
Fonte: American Journal of Medical Genetics. Part A. Unidades: IB, BIOINFORMÁTICA, HRAC, FMRP
Assuntos: 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: 04 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. 04 ] 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. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Artigo de periodico
Identification of a de novo PUF60 variant associated with craniofacial microsomia (2024)
Ogawa, Takuya ; Xue, Jingyi; Guo, Long ; Inoue-Arai, Maristela Sayuri ; Vendramini-Pittoli, Siulan ; Zechi-Ceide, Roseli Maria ; Candido-Souza, Rosana Maria ; Tonello, Cristiano ; Brandão, Michele Madeira ; Ozawa, Terumi Okada ; Peixoto, Adriano Porto ; Ruiz, Daniela Maria Cury Ferreira; Nakashima, Tomoki; Ikegawa, Shiro; Moriyama, Keiji ; Kokitsu-Nakata, Nancy Mizue
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ASSIMETRIA FACIAL, FENÓTIPOS, MANDÍBULA, MALFORMAÇÕES
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ABNT
OGAWA, Takuya et al. Identification of a de novo PUF60 variant associated with craniofacial microsomia. American Journal of Medical Genetics. Part A, v. 194, n. 9, p. Se 2024, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63631. Acesso em: 04 nov. 2024.
APA
Ogawa, T., Xue, J., Guo, L., Inoue-Arai, M. S., Vendramini-Pittoli, S., Zechi-Ceide, R. M., et al. (2024). Identification of a de novo PUF60 variant associated with craniofacial microsomia. American Journal of Medical Genetics. Part A, 194( 9), Se 2024. doi:10.1002/ajmg.a.63631
NLM
Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM. Identification of a de novo PUF60 variant associated with craniofacial microsomia [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 9): Se 2024.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63631
Vancouver
Ogawa T, Xue J, Guo L, Inoue-Arai MS, Vendramini-Pittoli S, Zechi-Ceide RM, Candido-Souza RM, Tonello C, Brandão MM, Ozawa TO, Peixoto AP, Ruiz DMCF, Nakashima T, Ikegawa S, Moriyama K, Kokitsu-Nakata NM. Identification of a de novo PUF60 variant associated with craniofacial microsomia [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 9): Se 2024.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63631
Artigo de periodico
Monodactyly in a patient with CHARGE syndrome: an additional case report (2024)
Serigatto, Henrique Regonaschi ; Zechi-Ceide, Roseli Maria ; Parizotto, Isabella ; Kokitsu-Nakata, Nancy Mizue
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Assuntos: MONODACTYLIDAE, ANORMALIDADES CONGÊNITAS, FISSURA PALATINA
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ABNT
SERIGATTO, Henrique Regonaschi et al. Monodactyly in a patient with CHARGE syndrome: an additional case report. American Journal of Medical Genetics. Part A, v. 194, n. 6, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63561. Acesso em: 04 nov. 2024.
APA
Serigatto, H. R., Zechi-Ceide, R. M., Parizotto, I., & Kokitsu-Nakata, N. M. (2024). Monodactyly in a patient with CHARGE syndrome: an additional case report. American Journal of Medical Genetics. Part A, 194( 6). doi:10.1002/ajmg.a.63561
NLM
Serigatto HR, Zechi-Ceide RM, Parizotto I, Kokitsu-Nakata NM. Monodactyly in a patient with CHARGE syndrome: an additional case report [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 6):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63561
Vancouver
Serigatto HR, Zechi-Ceide RM, Parizotto I, Kokitsu-Nakata NM. Monodactyly in a patient with CHARGE syndrome: an additional case report [Internet]. American Journal of Medical Genetics. Part A. 2024 ; 194( 6):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63561
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
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, FOB, HRACF
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63319
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
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.61461
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
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] 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
Fonte: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] 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
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: SÍNDROME DE NOONAN, DELEÇÃO DE GENES, FENÓTIPOS, ANÁLISE FACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38362/epdf
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
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.36057
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
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, HRACF
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.35454
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
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assuntos: MALFORMAÇÕES, LÁBIO FISSURADO, PALATO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32849
Artigo de periodico
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients (2009)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL, AGENESIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, v. 149A, n. 5, p. 1006-1011, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32717. Acesso em: 04 nov. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, 149A( 5), 1006-1011. doi:10.1002/ajmg.a.32717
NLM
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32717
Vancouver
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32717
Artigo de periodico
Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? (2009)
Guion-Almeida, Maria Leine; Vendramini-Pittoli, Siulan; Passos-Bueno, Maria Rita ; Zechi-Ceide, Roseli Maria
Fonte: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assunto: ANOMALIA CRANIOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine et al. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?. American Journal of Medical Genetics. Part A, v. 149A, p. 2762-2764, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32816. Acesso em: 04 nov. 2024.
APA
Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? American Journal of Medical Genetics. Part A, 149A, 2762-2764. doi:10.1002/ajmg.a.32816
NLM
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Vancouver
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Artigo de periodico
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes (2009)
Zechi-Ceide, Roseli Maria; Ribeiro, Lucilene Arilho; Raskin, Salmo; Bertolacini, Claudia Danielli Pereira; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA BILATERAL, GENES, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZECHI-CEIDE, Roseli Maria et al. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. American Journal of Medical Genetics. Part A, v. 149A, n. 6, p. 1277-1279, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32844. Acesso em: 04 nov. 2024.
APA
Zechi-Ceide, R. M., Ribeiro, L. A., Raskin, S., Bertolacini, C. D. P., Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. American Journal of Medical Genetics. Part A, 149A( 6), 1277-1279. doi:10.1002/ajmg.a.32844
NLM
Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CDP, Guion-Almeida ML, Richieri-Costa A. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1277-1279.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32844
Vancouver
Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CDP, Guion-Almeida ML, Richieri-Costa A. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 6): 1277-1279.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32844
Artigo de periodico
Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases (2007)
Guion-Almeida, Maria Leine; Ceide, Roseli Maria Zechi; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANORMALIDADES MÚLTIPLAS, HIPERTELORISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e CEIDE, Roseli Maria Zechi e RICHIERI-COSTA, Antonio. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3252-3266, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32090. Acesso em: 04 nov. 2024.
APA
Guion-Almeida, M. L., Ceide, R. M. Z., & Richieri-Costa, A. (2007). Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, 143A( 24), 3252-3266. doi:10.1002/ajmg.a.32090
NLM
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32090
Vancouver
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32090
Artigo de periodico
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome (2007)
Mazzeu, Juliana Forte; Pardono, Eliete; Vianna-Morgante, Angela M ; Richieri-Costa, Antonio; Kim, Chong Ae; Brunoni, Decio; Martelli, Lucia; Andrade, Carlos Eugenio F. de; Colin, Guilherme; Otto, Paulo A
Fonte: American Journal of Medical Genetics. Part A. Unidades: IB, HRAC, FM
Assuntos: GENÉTICA, DIAGNÓSTICO DIFERENCIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MAZZEU, Juliana Forte et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics. Part A, v. 143 A, n. 4, p. 320-325, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31592. Acesso em: 04 nov. 2024.
APA
Mazzeu, J. F., Pardono, E., Vianna-Morgante, A. M., Richieri-Costa, A., Kim, C. A., Brunoni, D., et al. (2007). Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. American Journal of Medical Genetics. Part A, 143 A( 4), 320-325. doi:10.1002/ajmg.a.31592
NLM
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Kim CA, Brunoni D, Martelli L, Andrade CEF de, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143 A( 4): 320-325.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.31592
Vancouver
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Kim CA, Brunoni D, Martelli L, Andrade CEF de, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143 A( 4): 320-325.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.31592
Artigo de periodico
Pai syndrome: report of seven south american patients (2007)
Guion-Almeida, Maria Leine; Mellado, Cecília; Beltrán, Constanza; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, HIPERTELORISMO, LÁBIO FISSURADO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine et al. Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3273-3279, 2007Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0. Acesso em: 04 nov. 2024.
APA
Guion-Almeida, M. L., Mellado, C., Beltrán, C., & Richieri-Costa, A. (2007). Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, 143A( 24), 3273-3279. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
NLM
Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 nov. 04 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
Vancouver
Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 nov. 04 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
Artigo de periodico
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union (2007)
Ceide, Roseli Maria Zechi; Guion-Almeida, Maria Leine; Zanchetta, Sthella; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CEIDE, Roseli Maria Zechi et al. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3295-3301, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32019. Acesso em: 04 nov. 2024.
APA
Ceide, R. M. Z., Guion-Almeida, M. L., Zanchetta, S., & Richieri-Costa, A. (2007). Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, 143A( 24), 3295-3301. doi:10.1002/ajmg.a.32019
NLM
Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32019
Vancouver
Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.32019
Artigo de periodico
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? (2006)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANORMALIDADES MÚLTIPLAS, LÁBIO FISSURADO, ANORMALIDADES DO SISTEMA NERVOSO, ANORMALIDADES CRANIOFACIAIS, GENÉTICA APLICADA
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ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?. American Journal of Medical Genetics. Part A, v. No 2006, n. 22, p. 2478-2481, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31518. Acesso em: 04 nov. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (2006). Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? American Journal of Medical Genetics. Part A, No 2006( 22), 2478-2481. doi:10.1002/ajmg.a.31518
NLM
Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.31518
Vancouver
Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1002/ajmg.a.31518

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