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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: 12 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. 12 ] 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. 12 ] Available from: https://doi.org/10.1002/ajmg.a.61461
Artigo de periodico
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling (2018)
Roessler, Erich; Hu, Ping; Marino, Juliana; Hong, Sungkook; Hart, Rachel; Berger, Seth; Martinez , Ariel; Abe, Yu; Kruszka, Paul; Thomas, James W; Mullikin, James C; NISC Comparative Sequencing Program; Wang, Yupeng; Wong, Wendy S. W; Niederhuber, John E; Solomon, Benjamin D; Richieri-Costa, Antonio; Bicudo, Lucilene Arilho Ribeiro; Muenke, Maximilian
Source: Human Mutation. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA
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ABNT
ROESSLER, Erich et al. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, v. 39, n. 10, p. 1416-1427, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23590. Acesso em: 12 nov. 2024.
APA
Roessler, E., Hu, P., Marino, J., Hong, S., Hart, R., Berger, S., et al. (2018). Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, 39( 10), 1416-1427. doi:10.1002/humu.23590
NLM
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/humu.23590
Vancouver
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/humu.23590
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: 12 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. 12 ] 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. 12 ] 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: 12 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. 12 ] 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. 12 ] 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: 12 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. 12 ] 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. 12 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38362/epdf
Artigo de periodico
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome (2016)
Hong, Sungkook; Hu, Ping; Marino, Juliana; Hufnagel, Sophia B.; Hopkin, Robert J.; Toromanovic, Alma; Richieri-Costa, Antonio; Bicudo, Lucilene A. Ribeiro; Kruszka, Paul; Roessler, Erich; Muenke, Maximilian
Source: Human Molecular Genetics. Unidade: HRAC
Subjects: MUTAÇÃO GENÉTICA, HOLOPROSENCEFALIA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HONG, Sungkook et al. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, v. 25, n. 10, 2016Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddw064. Acesso em: 12 nov. 2024.
APA
Hong, S., Hu, P., Marino, J., Hufnagel, S. B., Hopkin, R. J., Toromanovic, A., et al. (2016). Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Human Molecular Genetics, 25( 10). doi:10.1093/hmg/ddw064
NLM
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2024 nov. 12 ] Available from: https://doi.org/10.1093/hmg/ddw064
Vancouver
Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Bicudo LAR, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome [Internet]. Human Molecular Genetics. 2016 ; 25( 10):[citado 2024 nov. 12 ] Available from: https://doi.org/10.1093/hmg/ddw064

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