Friedhelm Hildebrandt

Friedhelm Hildebrandt

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Friedhelm Hildebrandt

Publications by authors named "Friedhelm Hildebrandt"

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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Pediatr Nephrol 2019 Sep 17;34(9):1607-1613. Epub 2019 Apr 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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http://link.springer.com/10.1007/s00467-019-04256-0
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http://dx.doi.org/10.1007/s00467-019-04256-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660980PMC
September 2019

Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.

Kidney Int 2019 Aug 8;96(2):320-326. Epub 2019 May 8.

Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2019.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650321PMC
August 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

Personalized medicine in chronic kidney disease by detection of monogenic mutations.

Nephrol Dial Transplant 2019 Feb 26. Epub 2019 Feb 26.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.

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https://academic.oup.com/ndt/advance-article/doi/10.1093/ndt
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http://dx.doi.org/10.1093/ndt/gfz028DOI Listing
February 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio.

Zebrafish 2018 10 13;15(5):445-453. Epub 2018 Aug 13.

2 Aquatic Resources Program, Boston Children's Hospital , Boston, Massachusetts.

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http://dx.doi.org/10.1089/zeb.2018.1599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198761PMC
October 2018

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.

J Biol Chem 2018 09 15;293(39):15243-15255. Epub 2018 Aug 15.

From the Department of Medicine, Renal Division, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany,

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA117.000847
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http://dx.doi.org/10.1074/jbc.RA117.000847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166740PMC
September 2018

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 09 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.

Cell Rep 2018 05;23(8):2495-2508

III. Department of Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Department of Medicine IV, Medical Center and Faculty of Medicine, University of Freiburg, 79110 Freiburg, Germany; Freiburg Institute for Advanced Studies (FRIAS), University of Freiburg, 79104 Freiburg, Germany; Center for Systems Biology (ZBSA), Albert Ludwigs University, 79104 Freiburg, Germany; BIOSS Centre for Biological Signaling Studies, Albert Ludwigs University Freiburg, 79104 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.04.059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986710PMC
May 2018

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Hypertension 2018 04 26;71(4):691-699. Epub 2018 Feb 26.

From the Department of Medicine (J.K.W., M.S., A.V., W.T., A.D., J.A.L., D.A.B., S.S., K.A., M.J.G.S., N.M.R., M.A.B., G.D., A.Z.T., D.R.S., M.A.F., F.H.), Department of Surgery (H.B.K., K.V.), Department of Cardiology (D.P., J.L., L.B.S., M.N.S.), Department of Neurology (M.J.R.), Department of Radiology (G.C.), and Department of Neurosurgery (E.R.S.), Boston Children's Hospital, Harvard Medical School, MA; Department of Pediatrics, Yale-New Haven Children's Hospital (J.K.W.) and Department of Genetics (S.M.M., R.P.L.), Yale School of Medicine, CT; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel (A.V.); and Laboratory of Human Genetics and Genomics, The Rockefeller University, New York (R.P.L.).

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https://www.ahajournals.org/doi/10.1161/HYPERTENSIONAHA.117.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.10296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843550PMC
April 2018

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

PLoS Genet 2018 03 30;14(3):e1007316. Epub 2018 Mar 30.

Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1371/journal.pgen.1007316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895051PMC
March 2018

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 01 27;29(1):36-50. Epub 2017 Oct 27.

Divison of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts

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http://dx.doi.org/10.1681/ASN.2017050561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748921PMC
January 2018

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

Mamm Genome 2017 12 21;28(11-12):498-514. Epub 2017 Sep 21.

Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Crewe Road, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1007/s00335-017-9718-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680368PMC
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Am J Med Genet A 2017 Oct 17;173(10):2697-2702. Epub 2017 Aug 17.

Department of Pediatrics, Centre of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.

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http://doi.wiley.com/10.1002/ajmg.a.38393
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http://dx.doi.org/10.1002/ajmg.a.38393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205885PMC
October 2017

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Pediatr Nephrol 2017 Jul 15;32(7):1181-1192. Epub 2017 Feb 15.

Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Enders 561, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s00467-017-3590-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478193PMC
July 2017

Modeling Monogenic Human Nephrotic Syndrome in the Garland Cell Nephrocyte.

J Am Soc Nephrol 2017 May 8;28(5):1521-1533. Epub 2016 Dec 8.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2016050517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407722PMC
May 2017

Ciliopathies.

Cold Spring Harb Perspect Biol 2017 Mar 1;9(3). Epub 2017 Mar 1.

Division of Nephrology, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115.

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http://dx.doi.org/10.1101/cshperspect.a028191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334254PMC
March 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

A small molecule screening to detect potential therapeutic targets in human podocytes.

Am J Physiol Renal Physiol 2017 01 19;312(1):F157-F171. Epub 2016 Oct 19.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; and

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http://dx.doi.org/10.1152/ajprenal.00386.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504421PMC
January 2017

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.

J Am Soc Nephrol 2016 Dec 29;27(12):3552-3559. Epub 2016 Mar 29.

Department of Medicine, Boston Children's Hospital, Boston, Massachusetts;

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http://dx.doi.org/10.1681/ASN.2015101108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118483PMC
December 2016

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

Pediatr Nephrol 2016 11 8;31(11):2025-33. Epub 2016 Feb 8.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1007/s00467-016-3335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207487PMC
November 2016

Genetic testing in steroid-resistant nephrotic syndrome: when and how?

Nephrol Dial Transplant 2016 11 27;31(11):1802-1813. Epub 2015 Oct 27.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://ndt.oxfordjournals.org/content/early/2015/10/26/ndt.g
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http://ndt.oxfordjournals.org/lookup/doi/10.1093/ndt/gfv355
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http://dx.doi.org/10.1093/ndt/gfv355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367944PMC
November 2016

Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium.

Semin Nephrol 2016 11;36(6):448

Broad Institute of Massachusetts Institute of Technology, and Harvard, Cambridge, MA; Center for Human Genetic Research and Diabetes Research Center, Diabetes Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1016/j.semnephrol.2016.09.005DOI Listing
November 2016

Genetics of Kidney Diseases.

Semin Nephrol 2016 11;36(6):472-474

Department of Medicine, Division of Nephrology, Children's Hospital and Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.semnephrol.2016.09.011DOI Listing
November 2016

Mutations in SLC26A1 Cause Nephrolithiasis.

Am J Hum Genet 2016 06 19;98(6):1228-1234. Epub 2016 May 19.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908148PMC
June 2016

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

J Am Soc Nephrol 2016 Apr 11;27(4):1066-75. Epub 2015 Aug 11.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;

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http://dx.doi.org/10.1681/ASN.2014121197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4814174PMC
April 2016

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

J Med Genet 2016 Mar 16;53(3):208-14. Epub 2015 Dec 16.

Divison of Nephology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057575PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103304DOI Listing
March 2016

Exploring the genetic basis of early-onset chronic kidney disease.

Nat Rev Nephrol 2016 Mar 11;12(3):133-46. Epub 2016 Jan 11.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/nrneph.2015.205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5202482PMC
March 2016

Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders.

Nat Rev Nephrol 2015 Nov 1;11(11):635-6. Epub 2015 Sep 1.

Boston Children's Hospital, Division of Nephrologoy, 300 Longwood Avenue, Enders 561, Boston, MA 02115, United States.

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http://dx.doi.org/10.1038/nrneph.2015.148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198303PMC
November 2015