Publications of The Presidents of The Rockefeller University

Search

per page

Found 361 matches. Displaying 1-10 Toggle highlighting of searched terms

[ 1-10 | Next ]

1. Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S   Isolated polycystic liver disease genes define effectors of polycystin-1 function (vol 127, pg 1772, 2017)   JOURNAL OF CLINICAL INVESTIGATION 2017 SEP 1; 127(9):3558-3558 Full Text | PubMed

2. Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu WN, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R   A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 2017 AUG; 28(8):2364-2376 Full Text | PubMed

3. Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle KT, Steinbacher DM, Larysz D, Persing JA, Lifton RP   De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2017 AUG 29; 114(35):E7341-E7347 Full Text | PubMed

4. Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA   Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation   BRITISH JOURNAL OF DERMATOLOGY 2017 JUL; 177(1):319-322 Full Text | PubMed

5. Scholl UI, Abriola L, Zhang CB, Reimer EN, Plummer M, Kazmierczak BI, Zhang JH, Hoyer D, Merkel JS, Wang WH, Lifton RP   Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma   JOURNAL OF CLINICAL INVESTIGATION 2017 JUN 30; 127(7):2739-2750 Full Text | PubMed

6. Boyden LM, Vincent NG, Zhou J, Hu RH, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA   Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma   AMERICAN JOURNAL OF HUMAN GENETICS 2017 JUN 1; 100(6):978-984 Full Text | PubMed

7. Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S   Isolated polycystic liver disease genes define effectors of polycystin-1 function   JOURNAL OF CLINICAL INVESTIGATION 2017 MAY 1; 127(5):1772-1785 Full Text | PubMed

8. Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan WZ, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussee N, Arrondel C, Patat J, Gribouval O, Furlano M   Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency   JOURNAL OF CLINICAL INVESTIGATION 2017 MAR 1; 127(3):912-928 Full Text | PubMed

9. Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS   Genetic Drivers of Kidney Defects in the DiGeorge Syndrome   NEW ENGLAND JOURNAL OF MEDICINE 2017 FEB 23; 376(8):742-754 Full Text | PubMed

10. Zhao BX, Lu QS, Cheng YW, Belcher JM, Siew ED, Leaf DE, Body SC, Fox AA, Waikar SS, Collard CD, Thiessen-Philbrook H, Ikizler TA, Ware LB, Edelstein CL, Garg AX, Choi M, Schaub JA, Zhao HY, Lifton RP, Parikh CR   A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE 2017 FEB 15; 195(4):482-490 Full Text | PubMed

[ 1-10 | Next ]