Search Results - "Robins, Vicki"

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 by Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D, Crocker, John F S, Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová, Anna, Barešová, Veronika, Jedličková, Ivana, Živná, Martina, Sovová, Jana, Hůlková, Helena, Robins, Vicki, Vrbacký, Marek, Pecina, Petr, Kaplanová, Vilma, Houštěk, Josef, Mráček, Tomáš, Thibeault, Yves, Bleyer, Anthony J, Kmoch, Stanislav

“…The Acadian variant of Fanconi Syndrome refers to a specific condition characterized by generalized proximal tubular dysfunction from birth, slowly progressive…”
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Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein by Bleyer, Anthony J., Hart, Thomas C., Shihabi, Zak, Robins, Vicki, Hoyer, John R.

“…Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Mutations in the uromodulin (UMOD) gene that encodes Tamm-Horsfall…”
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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 by Bleyer, Anthony J, Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R, Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J, Scheinman, Steven J, Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J, Vogel, Kristen, Rahbari-Oskoui, Frederick F, Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L, Sperati, C John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A, McGinn, Stella, Bleyer, Jr, Anthony J, Hodanová, Katerina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C, Hart, P Suzanne

“…The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of…”
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