Friedhelm Hildebrandt

Friedhelm Hildebrandt (born February 11, 1957) is the William E. Harmon Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology at Boston Children's Hospital. He was formerly an Investigator of the Howard Hughes Medical Institute (HHMI) and the Frederick G.L. Huetwell Professor of Pediatrics at the University of Michigan. Provided by Wikipedia
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  1. 1
    Diverse phenotypic expression of NPHP4 mutations in four siblings

    Diverse phenotypic expression of NPHP4 mutations in four siblings by Sevcan A Bakkaloğlu, Yaşar Kandur, Tuğba Bedir-Demirdağ, İpek Işık-Gönül, Friedhelm Hildebrandt

    Published 2014-08-01
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  2. 2
    P009: Genetics prevalence of cystine stone: A 6 year longitudinal comparison

    P009: Genetics prevalence of cystine stone: A 6 year longitudinal comparison by Joshua Chang, Jad Badreddine, Euhun Eam, Katreya Lovrenert, Donald Bodner, Friedhelm Hildebrandt, Fredrick Schumacher, Chen-Han Wilfred Wu

    Published 2023-01-01
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  3. 3
    Activation of 2‐oxoglutarate receptor 1 (OXGR1) by α‐ketoglutarate (αKG) does not detectably stimulate Pendrin‐mediated anion exchange in Xenopus oocytes

    Activation of 2‐oxoglutarate receptor 1 (OXGR1) by α‐ketoglutarate (αKG) does not detectably stimulate Pendrin‐mediated anion exchange in Xenopus oocytes by John F. Heneghan, Amar J. Majmundar, Alicia Rivera, Jay G. Wohlgemuth, Jeffrey S. Dlott, L. Michael Snyder, Friedhelm Hildebrandt, Seth L. Alper

    Published 2022-07-01
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  4. 4
    Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review

    Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review by Maria Nowak-Ciołek, Michał Ciołek, Agnieszka Tomaszewska, Friedhelm Hildebrandt, Thomas Kitzler, Konstantin Deutsch, Katharina Lemberg, Shirlee Shril, Maria Szczepańska, Agnieszka Zachurzok

    Published 2024-07-01
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  5. 5
    LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus

    LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus by Dong Yun Kim, Yu Jin Sub, Hye-Youn Kim, Kyeong Jee Cho, Won Il Choi, Yo Jun Choi, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee

    Published 2023-06-01
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  6. 6
    SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.

    SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling. by Rannar Airik, Markus Schueler, Merlin Airik, Jang Cho, Kelsey A Ulanowicz, Jonathan D Porath, Toby W Hurd, Simon Bekker-Jensen, Jacob M Schrøder, Jens S Andersen, Friedhelm Hildebrandt

    Published 2016-01-01
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  7. 7
    ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

    ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. by Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee

    Published 2018-03-01
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  8. 8
    Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics

    Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics by Ankana Daga, MD, Ana Luz Morales, MD, Shirlee Shril, MD, Elizabeth Benoit, MPH, Dalia Pantel, MD, Angie Aguilar-González, MD, Mario García, MD, Ana C. Onuchic-Whitford, MD, Randall Lou-Meda, MD, Friedhelm Hildebrandt, MD

    Published 2024-12-01
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  9. 9
    Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes

    Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes by Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm Hildebrandt, Mir Reza Bekheirnia, Mir Reza Bekheirnia, Heon Yung Gee

    Published 2023-03-01
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  10. 10
    Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

    Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type by Katharina Lemberg, Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour, Daanya Salmanullah, Caroline M. Kolvenbach, Ken Saida, Seyoung Yu, Selina Hölzel, Andrew Steinsapir, Kevin A. Goncalves, Camille Nicolas Frank, Gijs A. C. Franken, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt

    Published 2024-07-01
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  11. 11
    A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

    A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. by Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt

    Published 2018-01-01
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  12. 12
    Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

    Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions by Konstantin Deutsch, Verena Klämbt, Thomas M. Kitzler, Tilman Jobst-Schwan, Ronen Schneider, Florian Buerger, Steve Seltzsam, Sherif El Desoky, Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad, Muna Al-Saffar, Neveen A. Soliman, Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum, Sophia Schneider, Abdul Halawi, Izzeldin Elmubarak, Katharina Lemberg, Shirlee Shril, Shrikant M. Mane, Nancy Rodig, Friedhelm Hildebrandt

    Published 2024-09-01
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  13. 13
    A systematic approach to mapping recessive disease genes in individuals from outbred populations.

    A systematic approach to mapping recessive disease genes in individuals from outbred populations. by Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christian Becker, Dominik Seelow, Norbert Huebner, Gil Chernin, Christopher N Vlangos, Weibin Zhou, John F O'Toole, Bethan E Hoskins, Matthias T F Wolf, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, Bugsu Ovunc, Susan J Allen, Virginia Vega-Warner, Eric Wise, Heather M Harville, Robert H Lyons, Joseph Washburn, James Macdonald, Peter Nürnberg, Edgar A Otto

    Published 2009-01-01
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  14. 14
    Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

    Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract by Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt

    Published 2022-10-01
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  15. 15
    Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

    Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome by Ronen Schneider, Shirlee Shril, Florian Buerger, Konstantin Deutsch, Kirollos Yousef, Camille N. Frank, Ana C. Onuchic-Whitford, Thomas M. Kitzler, Youying Mao, Verena Klämbt, Muhammad Y. Zahoor, Katharina Lemberg, Amar J. Majmundar, Bshara Mansour, Ken Saida, Steve Seltzsam, Caroline M. Kolvenbach, Lea Maria Merz, Nils D. Mertens, Tobias Hermle, Nina Mann, Dalia Pantel, Abdul A. Halawi, Aaron Bao, Luca Schierbaum, Sophia Schneider, Daanya Salmanullah, Iddo Z. Ben-Dov, Itamar Sagiv, Loai A. Eid, Hazem Subhi H. Awad, Muna Al Saffar, Neveen A. Soliman, Marwa M. Nabhan, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Said Ooda, Hanan M. Fathy, Shrikant Mane, Richard P. Lifton, Michael J.G. Somers, Friedhelm Hildebrandt

    Published 2025-03-01
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  16. 16
    Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

    Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome by Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

    Published 2023-04-01
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  17. 17
    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Published 2024-03-01
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  18. 18
    Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

    Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease by Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

    Published 2023-11-01
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