ReP USP - Resultado da busca

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
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ASSIMETRIA FACIAL, FENÓTIPOS, MANDÍBULA, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 03 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. 03 ] 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. 03 ] Available from: https://doi.org/10.1002/ajmg.a.63631
Artigo de periodico
The first hybrid international educational comprehensive cleft care workshop (2023)
Kantar, Rami S. ; Esenlik, Elçin ; Al Abyad, Omar S. ; Melhem, Antonio ; Younan, Robert Anthony ; Haddad, Mario ; Keith, Kristen ; Kassam, Serena ; Annan, Beyhan; Vijayakumar, Charanya ; Picard, Arnaud ; Padwa, Bonnie L.; Sommerlad, Brian ; Raposo-Amaral, Cassio Eduardo ; Forrest, Christopher R. ; Gillett, David A. ; Steinbacher, Derek M. ; Runyan, Christopher Michael ; Tanikawa, Daniela Yukie Sakai ; Chong, David K. ; Fisher, David M.; Mark, Hans ; Canter, Halil Ibrahim ; Losee, Joseph E. ; Patel, Krishna G.; Hartzell, Larry D. ; Johnson, Adam B.; Collares, Marcus Vinícius Martins ; Alonso, Nivaldo ; Chen, Philip Kuo-Ting ; Tse, Raymond W. ; Mann, Robert J.; Prada-Madrid, Jose Rolando; Kobayashi, Shinji ; Hussain, Syed Altaf ; Kummer, Ann W. ; Sell, Debbie A. ; Pereira, Valerie Jane ; Mabry, Kelly ; Gonsoulin, Courtney K.; Persson, Martin ; Davies, Gareth; Sethna, Navil F. ; Munoz-Pareja, Jennifer C. ; Kuijpers-Jagtman, Anne Marie ; Grayson, Barry H. ; Grollemund, Bruno ; Garib, Daniela Gamba ; Meazzini, Maria Costanza ; Kharbanda, Om Prakash ; Santiago, Pedro E.; Nalabothu, Prasad ; Batra, Puneet ; Stieber, Erin; Prasad, Dushyant; Brewster, Hugh; Ayala, Ruben E. ; Erbay, Elif; Akçam, Mehmet Okan ; Griot, J. Peter W. Don ; Vyas, Raj M. ; Flores, Roberto L. ; Breugem, Corstiaan C. ; Hamdan, Usama S.
Source: The Cleft Palate Craniofacial Journal. Unidades: FM, HRAC, FOB
Subjects: EVENTOS, SAÚDE BUCAL, CUIDADOS DE ENFERMAGEM, EDUCAÇÃO MÉDICA, EDUCAÇÃO A DISTÂNCIA, COMPETÊNCIA CLÍNICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KANTAR, Rami S. et al. The first hybrid international educational comprehensive cleft care workshop. The Cleft Palate Craniofacial Journal, v. 60, n. 10, p. 1189-1198, 2023Tradução . . Disponível em: https://doi.org/10.1177/10556656221097820. Acesso em: 03 nov. 2024.
APA
Kantar, R. S., Esenlik, E., Al Abyad, O. S., Melhem, A., Younan, R. A., Haddad, M., et al. (2023). The first hybrid international educational comprehensive cleft care workshop. The Cleft Palate Craniofacial Journal, 60( 10), 1189-1198. doi:10.1177/10556656221097820
NLM
Kantar RS, Esenlik E, Al Abyad OS, Melhem A, Younan RA, Haddad M, Keith K, Kassam S, Annan B, Vijayakumar C, Picard A, Padwa BL, Sommerlad B, Raposo-Amaral CE, Forrest CR, Gillett DA, Steinbacher DM, Runyan CM, Tanikawa DYS, Chong DK, Fisher DM, Mark H, Canter HI, Losee JE, Patel KG, Hartzell LD, Johnson AB, Collares MVM, Alonso N, Chen PK-T, Tse RW, Mann RJ, Prada-Madrid JR, Kobayashi S, Hussain SA, Kummer AW, Sell DA, Pereira VJ, Mabry K, Gonsoulin CK, Persson M, Davies G, Sethna NF, Munoz-Pareja JC, Kuijpers-Jagtman AM, Grayson BH, Grollemund B, Garib DG, Meazzini MC, Kharbanda OP, Santiago PE, Nalabothu P, Batra P, Stieber E, Prasad D, Brewster H, Ayala RE, Erbay E, Akçam MO, Griot JPWD, Vyas RM, Flores RL, Breugem CC, Hamdan US. The first hybrid international educational comprehensive cleft care workshop [Internet]. The Cleft Palate Craniofacial Journal. 2023 ; 60( 10): 1189-1198.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1177/10556656221097820
Vancouver
Kantar RS, Esenlik E, Al Abyad OS, Melhem A, Younan RA, Haddad M, Keith K, Kassam S, Annan B, Vijayakumar C, Picard A, Padwa BL, Sommerlad B, Raposo-Amaral CE, Forrest CR, Gillett DA, Steinbacher DM, Runyan CM, Tanikawa DYS, Chong DK, Fisher DM, Mark H, Canter HI, Losee JE, Patel KG, Hartzell LD, Johnson AB, Collares MVM, Alonso N, Chen PK-T, Tse RW, Mann RJ, Prada-Madrid JR, Kobayashi S, Hussain SA, Kummer AW, Sell DA, Pereira VJ, Mabry K, Gonsoulin CK, Persson M, Davies G, Sethna NF, Munoz-Pareja JC, Kuijpers-Jagtman AM, Grayson BH, Grollemund B, Garib DG, Meazzini MC, Kharbanda OP, Santiago PE, Nalabothu P, Batra P, Stieber E, Prasad D, Brewster H, Ayala RE, Erbay E, Akçam MO, Griot JPWD, Vyas RM, Flores RL, Breugem CC, Hamdan US. The first hybrid international educational comprehensive cleft care workshop [Internet]. The Cleft Palate Craniofacial Journal. 2023 ; 60( 10): 1189-1198.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1177/10556656221097820
Artigo de periodico
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei ; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio ; Brunoni, Décio; Canó, Talyta M.; Jorge, Alexander A. L. ; Kim, Chong Ae ; Honjo, Rachel ; Bertola, Débora R. ; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C.; Okamoto, Nobuhiko ; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P. ; Pogue, Robert ; Pereira, Rinaldo W.; Otto, Paulo A ; Gibbs, Richard A.; Ali, Bassam R.; van Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R. ; Vianna-Morgante, Angela M ; Carvalho, Claudia M. B. ; Mazzeu, Juliana F.
Source: Human Mutation. Unidades: HRAC, FM, IB
Subjects: FENÓTIPOS, MORFOLOGIA (ANATOMIA), SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 03 nov. 2024.
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/humu.24375
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/humu.24375
Artigo de periodico
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases (2022)
Vegas, Nancy ; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Tavares, Vanessa Luiza Romanelli ; Moisset, Hugo; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Halem, Souad Gherbi; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian ; Revencu, Nicole; Lehalle, Daphné; Petit, Florence ; Propst, Evan J.; Papsin, Blake C.; Phillips, John H.; Jakobsen, Linda; Tanno, Pauline Le; Thévenon, Julien; McGaughran, Julie; Gerkes, Erica H.; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y.; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M.; Passos-Bueno, Maria Rita ; Pingault, Véronique; Pontual, Loïc De; Amiel, Jeanne
Source: Human Mutation. Unidades: HRACF, HRAC, IB
Subjects: DOENÇAS MUSCULOSQUELÉTICAS, ANORMALIDADES CRANIOFACIAIS, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VEGAS, Nancy et al. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, v. 43, n. 5, p. 582-594, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24349. Acesso em: 03 nov. 2024.
APA
Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., et al. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, 43( 5), 582-594. doi:10.1002/humu.24349
NLM
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/humu.24349
Vancouver
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1002/humu.24349
Artigo de periodico
Insight into the ontogeny of GnRH neurons from patients born without a nose (2020)
Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y.; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R.; Williamson, Kathleen A.; Jacobsen, Christina M.; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E.; Prasad, Rameshwar; Mondal, Uttam K.; Reigstad, Hallvard M.; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B.; DiOrio, Nicole P.; Prada, Rolando; Capri, Yline; Morioka, Kosuke; Mizota, Michiyo; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Tonello, Cristiano ; Pittoli, Siulan Vendramini Paulovich ; Dalben, Gisele da Silva ; Balasubramanian, Ravikumar; Dwyer, Andrew A.; Seminara, Stephanie B.; Crowley Júnior, William F.; Plummer, Lacey; Hall, Janet E.; Graham Júnior, John M.; Lin, Angela E.; Shaw, Natalie D.
Source: Journal of Clinical Endocrinology and Metabolism. Unidade: HRAC
Subjects: HORMÔNIO LIBERADOR DE GONADOTROFINAS, AGENESIA, NARIZ (ANATOMIA), MALFORMAÇÕES, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DELANEY, Angela et al. Insight into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology and Metabolism, v. 105, n. 5, p. 1538-1551, 2020Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgaa065. Acesso em: 03 nov. 2024.
APA
Delaney, A., Volochayev, R., Meader, B., Lee, J., Almpani, K., Noukelak, G. Y., et al. (2020). Insight into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology and Metabolism, 105( 5), 1538-1551. doi:10.1210/clinem/dgaa065
NLM
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho C-H, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Nakata NMK, Tonello C, Pittoli SVP, Dalben G da S, Balasubramanian R, Dwyer AA, Seminara SB, Crowley Júnior WF, Plummer L, Hall JE, Graham Júnior JM, Lin AE, Shaw ND. Insight into the ontogeny of GnRH neurons from patients born without a nose [Internet]. Journal of Clinical Endocrinology and Metabolism. 2020 ; 105( 5): 1538-1551.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1210/clinem/dgaa065
Vancouver
Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho C-H, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Nakata NMK, Tonello C, Pittoli SVP, Dalben G da S, Balasubramanian R, Dwyer AA, Seminara SB, Crowley Júnior WF, Plummer L, Hall JE, Graham Júnior JM, Lin AE, Shaw ND. Insight into the ontogeny of GnRH neurons from patients born without a nose [Internet]. Journal of Clinical Endocrinology and Metabolism. 2020 ; 105( 5): 1538-1551.[citado 2024 nov. 03 ] Available from: https://doi.org/10.1210/clinem/dgaa065

USP Schools

ReP

Filtros

Departament

Authors

USP affiliated authors

Subjects

Funding Agencies

Non normalized affiliation

Countries of institutions of collaboration