ReP USP - Resultado da busca

Artigo de periodico
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation (2010)
Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C.; Oudakker, Astrid R.; Kjaergaard, Susanne; Vianna-Morgante, Angela M ; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S.; Ullmann, Reinhard; Schwartz, Charles E.; Stratton, Michael; Raymond, F. Lucy; Veltman, Joris A.; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; Hehir-Kwa, Jayne y.; Froyen, Guy; Chelly, Jamel; Ropers, Hans Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G.; Hamel, Ben C. J.; Resenberg, Carla; Bokhoven, Hans van; Brouwer, Arjan P. M. de
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: GENÉTICA, RETARDO MENTAL
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ABNT
LUGTENBERG, Dorien et al. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics Part A, v. 152A n. 3, p. 638-645, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33292. Acesso em: 19 abr. 2024.
APA
Lugtenberg, D., Zangrande-Vieira, L., Kirchhoff, M., Whibley, A. C., Oudakker, A. R., Kjaergaard, S., et al. (2010). Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics Part A, 152A n. 3, 638-645. doi:10.1002/ajmg.a.33292
NLM
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JHM, Hehir-Kwa J y., Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Resenberg C, Bokhoven H van, Brouwer APM de. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A n. 3 638-645.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.33292
Vancouver
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JHM, Hehir-Kwa J y., Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Resenberg C, Bokhoven H van, Brouwer APM de. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A n. 3 638-645.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.33292
Artigo de periodico
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization (2011)
Freitas, Erika L; Gribble, Susan M.; Simioni, Milena; Vieira, Társis P.; Silva-Grecco, Roseane L; Balarin, Marly A. S; Prigmore, Elena; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Szuhai, Karoly; Haeringen Arie van; Carter, Nigel P; Gil-da-Silva-Lopes, Vera Lúcia
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, ANOMALIA DENTÁRIA, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L et al. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, v. No 2011, n. 11, p. 2754-2761, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.34168. Acesso em: 19 abr. 2024.
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Silva-Grecco, R. L., Balarin, M. A. S., et al. (2011). Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, No 2011( 11), 2754-2761. doi:10.1002/ajmg.a.34168
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi ACV, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.34168
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi ACV, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.34168
Artigo de periodico
Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects (2011)
Jaillard, Sylvie; Andrieux, Joris; Plessis, Ghislaine; Krepischi, Ana Cristina Victorino ; Lucas, Josette; David, Véronique; Brun, Marine Le; Bertola, Débora Romeo; David, Albert; Belaud-Rotureau, Marc-Antoine; Mosser, Jean; Lazaro, Leila; Treguier, Catherine; Rosenberg, Carla ; Odent, Sylvie; Dubourg, Christèle
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: RETARDO MENTAL, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JAILLARD, Sylvie et al. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, v. 155A, n. 4, p. 725-731, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33758. Acesso em: 19 abr. 2024.
APA
Jaillard, S., Andrieux, J., Plessis, G., Krepischi, A. C. V., Lucas, J., David, V., et al. (2011). Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, 155A( 4), 725-731. doi:10.1002/ajmg.a.33758
NLM
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.33758
Vancouver
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1002/ajmg.a.33758
Artigo de periodico
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)
Molin, A. M; Andrieux, J; Koolen, D. A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; Leeuw, N de; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, Fernando; Krepischi, Ana Cristina Victorino ; Le Caignec, C; Mackie Ogilvie, C; Maia, S; Mathieu-Dramard, M; Minnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling,L; Rosenberg, Carla ; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G
Source: Journal of Medical Genetics. Unidade: IB
Subjects: RETARDO MENTAL, GENÓTIPOS, FENÓTIPOS, ANOMALIA FACIAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 19 abr. 2024.
APA
Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534
NLM
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Vancouver
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Artigo de periodico
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state (2012)
Freitas, Erika L; Gribble, Susan M; Simioni, Milena; Vieira, Társis P; Prigmore, Elena; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Pearson, Peter L; Melo, Débora G; Lopes, Vera Lúcia Gil-da-Silva
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, MALFORMAÇÕES, ANOMALIA CRANIOFACIAL, ACONSELHAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L et al. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, v. No 2012, n. 11, p. 660-665, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2012.06.015. Acesso em: 19 abr. 2024.
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Prigmore, E., Krepischi, A. C. V., et al. (2012). A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, No 2012( 11), 660-665. doi:10.1016/j.ejmg.2012.06.015
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015

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