Otros recursos de Hildebrandt, Friedhelm

Resultados 1 - 10 de 19 de Hildebrandt, Friedhelm. (0 segundos)


Documentos:
  1. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease (�)

    Vodopiutz , Julia; Seidl , Rainer; Prayer , Daniela; Khan , M. Imran; Mayr , Johannes; Streubel , Berthold; Steiß , Jens-Oliver; Hahn , Andreas; Csaicsich , Dagmar; Castro , Christel; Assoum , Mirna; Muller , Thomas; Wieczorek , Dagmar; Mancini , Grazia; Sadowski , Carolin; Lévy , Nicolas; Mégarbané , André; Godbole , Koumudi; Schanze , Denny; Hildebrandt , Friedhelm; Delague , Valérie; Janecke , Andreas; Zenker , Martin
    International audience
    09-jun-2018

  2. Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function (�)

    Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo
    Abstract Mutations in COQ8B cause steroid‐resistant nephrotic syndrome with variable neurological in ...
    21-abr-2018

  3. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux (�)

    van der Ven, Amelie T.; Kobbe, Birgit; Kohl, Stefan; Shril, Shirlee; Pogoda, Hans-Martin; Imhof, Thomas; Ityel, Hadas; Vivante, Asaf; Chen, Jing; Hwang, Daw-Yang; Connaughton, Dervla M.; Mann, Nina; Widmeier, Eugen; Taglienti, Mary; Schmidt, Johanna Magdalena; Nakayama, Makiko; Senguttuvan, Prabha; Kumar, Selvin; Tasic, Velibor; Kehinde, Elijah O.; Mane, Shrikant M.; Lifton, Richard P.; Soliman, Neveen; Lu, Weining; Bauer, Stuart B.; Hammerschmidt, Matthias; Wagener, Raimund; Hildebrandt, Friedhelm
    Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40–50%) of c ...
    22-mar-2018

  4. Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model (�)

    Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Schneider, Ronen; Hoogstraten, Charlotte A.; Ullmann, Jeremy F. P.; Schapiro, David; Majmundar, Amar J.; Kolb, Amy; Eddy, Kaitlyn; Shril, Shirlee; Braun, Daniela A.; Poduri, Annapurna; Hildebrandt, Friedhelm
    Until recently, morpholino oligonucleotides have been widely employed in zebrafish as an acute and e ...
    28-feb-2018

  5. Centrosomes and cilia in human disease (�)

    Bettencourt-Dias, Mónica; Hildebrandt, Friedhelm; Pellman, David; Woods, Geoff; Godinho, Susana A.
    The deposited article is a post-print version (NIH-PA Author Manuscript) and has been submitted to p ...
    11-feb-2018

  6. Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice (�)

    Vermeren, Matthieu; Lyraki, Rodanthi; Wani, Sachin; Airik, Rannar; Albagha, Omar; Mort, Richard; Hildebrandt, Friedhelm; Hurd, Toby
    Osteoclast stimulation factor 1 (OSTF1) is an SH3-domain containing protein that was initially ident ...
    08-dic-2017

  7. Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum (�)

    Matejas , Verena; Hinkes , Bernward; Alkandari , Faisal; Al-Gazali , Lihadh; Annexstad , Ellen; Aytac , Mehmet; Barrow , Margaret; Blahova , Kveta; Bockenhauer , Detlef; Cheong , Hae Il; Maruniak-Chudek , Iwona; Cochat , Pierre; Gajjar , Priya; Hennekam , Raoul; Janssen , Francoise; Kagan , Mikhail; Kariminejad , Ariana; Kemper , Markus; Koenig , Jens; Kogan , Jillene; Kroes , Yolande H; Kuwertz-Bröking , Eberhard; Lewanda , Amy; Medeira , Ana; Muscheites , Jutta; Niaudet , Patrick; Pierson , Michel; Saggar , Anand; Seaver , Laurie; Suri , Mohnish; Tsygin , Alexey; Wuehl , Elke; Zurowska , Aleksandra; Uebe , Steffen; Hildebrandt , Friedhelm; Antignac , Corinne; Zenker , Martin
    International audience
    16-mar-2018

  8. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. (�)

    Doimo , Mara; Trevisson , Eva; Airik , Rannar; Bergdoll , Marc; Santos-Ocaña , Carlos; Hildebrandt , Friedhelm; Navas , Placido; Pierrel , Fabien; Salviati , Leonardo
    International audience
    15-jun-2018

  9. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery (�)

    Toriyama , Michinori; Lee , Chanjae; Taylor , S Paige; Duran , Ivan; Cohn , Daniel H; Bruel , Ange-Line; Tabler , Jacqueline M; Drew , Kevin; Kelly , Marcus R; Kim , Sukyoung; Park , Tae Joo; Braun , Daniela A; Pierquin , Ghislaine; Biver , Armand; Wagner , Kerstin; Malfroot , Anne; Panigrahi , Inusha; Franco , Brunella; Al-lami , Hadeel Adel; Yeung , Yvonne; Choi , Yeon Ja; Duffourd , Yannis; Faivre , Laurence; Rivière , Jean-Baptiste; Chen , Jiang; Liu , Karen J; Marcotte , Edward M; Hildebrandt , Friedhelm; Thauvin-Robinet , Christel; Krakow , Deborah; Jackson , Peter K; Wallingford , John B
    International audience
    09-jun-2018

  10. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery (�)

    Toriyama, Michinori; Lee, Chanjae; Taylor, S. Paige; Duran, Ivan; Cohn, Daniel H.; Bruel, Ange-Line; Tabler, Jacqueline M.; Drew, Kevin; Kelley, Marcus R.; Kim, Sukyoung; Park, Tae Joo; Braun, Daniella; Pierquin, Ghislaine; Biver, Armand; Wagner, Kerstin; Malfroot, Anne; Panigrahi, Inusha; Franco, Brunella; Al-lami, Hadeel Adel; Yeung, Yvonne; Choi, Yeon Ja; Duffourd, Yannis; Faivre, Laurence; Rivière, Jean-Baptiste; Chen, Jiang; Liu, Karen J.; Marcotte, Edward M.; Hildebrandt, Friedhelm; Thauvin-Robinet, Christel; Krakow, Deborah; Jackson, Peter K.; Wallingford, John B.
    Summary Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signali ...
    29-ago-2017

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