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Artigo de periodico
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) (2004)
Bergmann, Carsten; Senderek, Jan; Kupper, Fabian; Schneider, Frank; Dornia, Christian; Windelen, Ellen; Eggermann, Thomas; Rudnik-Schoneborn, Sabine; Kirfel, Jutta; Furu, Laszlo; Onuchic, Luiz F.; Rossetti, Sandro; Harris, Peter C.; Somlo, Stefan; Guay-Woodford, Lisa; Germino, Gregory G.; Moser, Markus; Buttner, Reinhard; Zerresm, Klaus
Fonte: Human mutation. Unidade: FM
Assuntos: CISTOS, RIM (FISIOPATOLOGIA), GENÓTIPOS, MUTAÇÃO GENÉTICA, ANTICORPOS
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ABNT
BERGMANN, Carsten et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, v. 23, n. 5, p. 453-463, 2004Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf. Acesso em: 21 out. 2025.
APA
Bergmann, C., Senderek, J., Kupper, F., Schneider, F., Dornia, C., Windelen, E., et al. (2004). PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Human mutation, 23( 5), 453-463. Recuperado de http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
NLM
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2025 out. 21 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
Vancouver
Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerresm K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) [Internet]. Human mutation. 2004 ; 23( 5): 453-463.[citado 2025 out. 21 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.20029/pdf
Artigo de periodico
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation (2003)
Furu, Laszlo; Senderek, Jan; Gharavi, Ali; Hou, Xiaoying; Esquivel, Ernie L.; Nagasawa, Yasuyuki; Avner, Ellis; Germino, Gregory; Guay-Woodford, Lisa; Somlo, Stefan; Büttner, Reinhard; Zerres, Klaus; Onuchic, Luiz Fernando
Fonte: Journal of the American Society of Nephrology. Nome do evento: Accredited Sponsor: The American Society of Nephrology. Unidade: FM
Assuntos: NEFROLOGIA, GENES, AMINOÁCIDOS
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ABNT
FURU, Laszlo et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation. Journal of the American Society of Nephrology, v. 14, 2003Tradução . . Acesso em: 21 out. 2025.
APA
Furu, L., Senderek, J., Gharavi, A., Hou, X., Esquivel, E. L., Nagasawa, Y., et al. (2003). Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation. Journal of the American Society of Nephrology, 14.
NLM
Furu L, Senderek J, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Avner E, Germino G, Guay-Woodford L, Somlo S, Büttner R, Zerres K, Onuchic LF. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation. Journal of the American Society of Nephrology. 2003 ; 14[citado 2025 out. 21 ]
Vancouver
Furu L, Senderek J, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Avner E, Germino G, Guay-Woodford L, Somlo S, Büttner R, Zerres K, Onuchic LF. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation. Journal of the American Society of Nephrology. 2003 ; 14[citado 2025 out. 21 ]
Artigo de periodico
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) (2003)
Bergmann, Carsten; Senderek, Jan; Sedlacek, Beate; Pegiazoglou, Ioannis; Puglia, Patricia; Eggermann, Thomas; Rudnick-Schöneborn, Sabine; Furu, Laszlo; Baca, Monica de; Germino, Gregory; Guay-Woodford, Lisa; Somlo, Stefan; Moser, Markus; Büttner, Reinhard; Zerres, Klaus; Onuchic, Luiz Fernando
Fonte: Journal of the American Society of Nephrology. Nome do evento: Accredited Sponsor: The American Society of Nephrology. Unidade: FM
Assuntos: NEFROLOGIA, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERGMANN, Carsten et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology, v. 14, 2003Tradução . . Acesso em: 21 out. 2025.
APA
Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., et al. (2003). Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology, 14.
NLM
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnick-Schöneborn S, Furu L, Baca M de, Germino G, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K, Onuchic LF. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology. 2003 ; 14[citado 2025 out. 21 ]
Vancouver
Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnick-Schöneborn S, Furu L, Baca M de, Germino G, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K, Onuchic LF. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology. 2003 ; 14[citado 2025 out. 21 ]
Artigo de periodico
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats (2002)
Onuchic, Luiz F.; Furu, Laszlo; Nagasawa, Yasuyuki; Hou, Xiaoying; Eggermann, Thomas; Ren, Zhiyong; Bergmann, Carsten; Senderek, Jan; Esquivel, Ernie; Zeltner, Raoul; Schöneborn, Sabine Rudnik; Mrug, Michael; Sweeney, William; Avner, Ellis D.; Zerres. Klaus; Woodford, Lisa M. Guay; Somlo, Stefan; Germino, Gregory G.
Fonte: American Journal of Human Genetics. Unidade: FM
Assunto: IMUNOGLOBULINAS
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ABNT
ONUCHIC, Luiz F. et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics, v. 70, p. 1305-1317, 2002Tradução . . Acesso em: 21 out. 2025.
APA
Onuchic, L. F., Furu, L., Nagasawa, Y., Hou, X., Eggermann, T., Ren, Z., et al. (2002). PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics, 70, 1305-1317.
NLM
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Schöneborn SR, Mrug M, Sweeney W, Avner ED, Zerres. Klaus, Woodford LMG, Somlo S, Germino GG. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics. 2002 ; 70 1305-1317.[citado 2025 out. 21 ]
Vancouver
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Schöneborn SR, Mrug M, Sweeney W, Avner ED, Zerres. Klaus, Woodford LMG, Somlo S, Germino GG. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. American Journal of Human Genetics. 2002 ; 70 1305-1317.[citado 2025 out. 21 ]
Artigo de periodico
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene (2002)
Nagasawa, Yasuyuki; Matthiesen, Sonja; Onuchic, Luiz F.; Hou, Xiaoying; Bergmann, Carsten; Esquivel, Ernie; Senderek, Jan; Ren, Zhiyoung; Zeltner, Raoul; Furu, Laszlo; Avner, Ellis; Moser, Markus; Somlo, Stefan; Woodford, Lisa Guay; Büttner, Reinhard; Zerres, Klaus; Germino, Gregory G.
Fonte: Journal of the American Society of Nephrology. Unidade: FM
Assunto: NEFROLOGIA
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ABNT
NAGASAWA, Yasuyuki et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology, v. 13, p. 2239-2245, 2002Tradução . . Acesso em: 21 out. 2025.
APA
Nagasawa, Y., Matthiesen, S., Onuchic, L. F., Hou, X., Bergmann, C., Esquivel, E., et al. (2002). Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology, 13, 2239-2245.
NLM
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Woodford LG, Büttner R, Zerres K, Germino GG. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology. 2002 ; 13 2239-2245.[citado 2025 out. 21 ]
Vancouver
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Woodford LG, Büttner R, Zerres K, Germino GG. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology. 2002 ; 13 2239-2245.[citado 2025 out. 21 ]
Artigo de periodico
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene (2002)
Onuchic, Luiz F.; Mrug, Michael; Hou, Xiaoying; Eggermann, Thomass; Bergmann, Carsten; Zerres, Klaus; Avner, Ellis D.; Furu, Laszlo; Somlo. Stefan; Nagasawa, Yasuyuki; Germino, Gregory G.; Woodford, Lisa M. Guay
Fonte: American Journal of Medical Genetics. Unidade: FM
Assunto: GENÉTICA
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ABNT
ONUCHIC, Luiz F. et al. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. American Journal of Medical Genetics, v. 110, p. 346-352, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10468. Acesso em: 21 out. 2025.
APA
Onuchic, L. F., Mrug, M., Hou, X., Eggermann, T., Bergmann, C., Zerres, K., et al. (2002). Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. American Journal of Medical Genetics, 110, 346-352. doi:10.1002/ajmg.10468
NLM
Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo. Stefan, Nagasawa Y, Germino GG, Woodford LMG. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene [Internet]. American Journal of Medical Genetics. 2002 ; 110 346-352.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.10468
Vancouver
Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo. Stefan, Nagasawa Y, Germino GG, Woodford LMG. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene [Internet]. American Journal of Medical Genetics. 2002 ; 110 346-352.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.10468

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