PD Dr. Bernward Hinkes - Dr. Thorsten Fröhlich -
Dr. Klaus Skrodzki

Kindernephrologie - Kinderrheumatologie - Kindergastroenterologie - Neonatologie - Pädiatrische Ernährungsmedizin - ADHS-Sprechstunde

Wissenschaftliche Arbeiten Dr. Hinkes:

 

A - Habilitationsschrift:

Das nephrotische Syndrom im frühen Kindesalter – molekulare  Grundlagen und ihre klinische Relevanz, Friedrich-Alexander-Universität Erlangen-Nürnberg, abgeschlossen am 13.07.2012 mit der Lehrbefähigung für das Fach Kinder und Jugendmedizin.

              B - Originalarbeiten           

1. Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in four genes (NPHS1, NPHS2, WT1, or LAMB2)Hinkes B, Mucha B, Vlangos C, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F and Members of the APN Study Group; Pediatrics, 119:e907-919, 2007.

2. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible; Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'Toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F; Nature Genetics, 38(12):1397-405, 2006.

3. NPHS3 – new clues for understanding idiopathic nephrotic syndrome. Hinkes B, Pediatric Nephrology, 23(6):847-50, 2008.

4. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome; Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu L, Hasselbacher K, Ozaltin F, Hildebrandt F and Members of the APN Study Group; Journal of the American Society of Nephrology, 19(2):365-71, 2008.

5. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness; Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F; Journal of Clinical Investigation, 2011, 121(5):2013-24.)

6. “Strawberry wees forever?”; Hinkes B, Benz K, Köhler J, Rascher W, Hirsch K; Pediatric Nephrology, 2012.

7. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy; Hinkes B, Hilgers K, Bolz H, Goppelt-Struebe M, Amann K, Rascher W, Eckardt K-U, Jacobi J; BMC Nephrology, 2012.

8. Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database; Hinkes B und von Hoff K, Dannenmann-Stern E, v Bueren A, Warmuth-Metz M, Soerensen N, Emser A, Zwiener I, Schlegel P, Kuehl J, Frühwald M, Kortmann R, Pietsch T, Rudkowski S; Pediatric Blood and Cancer, 2011, 57(6):978-85.

9. Childhood pineoblastoma: experiences from the prospective multi-center trials HIT-SKK87, HIT-SKK92 and HIT91; Hinkes B, von Hoff K, Deinlein F, Warmuth-Metz M, Soerensen N, Timmermann B, Mittler U, Urban C, Bode U, Pietsch T, Schlegel PG, Kortmann RD, Kuehl J, Rutkowski S. Journal of Neurooncology, 81(2):217-223, 2007.

10. A novel TRPC6 mutation that causes childhood FSGS; Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. PLoS One, 2009 Nov 10;4(11):e7771.

11. Long-term outcome and clinical prognostic factors in children with medulloblastoma treated in the prospective randomised multicentre trial HIT´91; Von Hoff K, Hinkes B, Gerber NU, Deinlein F, Mittler U, Urban C, Benesch M, Warmuth-Metz M, Soerensen N, Zwiener I, Goette H, Schlegel PG, Pietsch T, Kortmann RD, Kuehl J, Rutkowski S; European Journal of Cancer, 45(7):1209-17, 2009.

12. A systematic approach to mapping recessive disease genes in individuals from outbred populations; Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA; PLoS Genetics, 5(1):e1000353, 2009.

13. Ciclosporin A is superior to cyclophosphamide in children with steroid resistant nephrotic syndrome – a randomized controlled multicentre trial by the APN; Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W for Arbeits-gemeinschaft für Pädiatrische Nephrologie; Pediatric Nephrology, 23(9):1483-93, 2008.

14. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome; Chernin G, Heeringa SF, Gbadegesin R, Liu J, Hinkes BG, Vlangos CN, Vega-Warner V, Hildebrandt F; Pediatric Nephrology, 23(9):1455-60, 2008.

15. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome; Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F and Members of the APN Study Group; Nephrology Dialysis Transplantion, 23(11):3527-33, 2008.

16. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis; Gbadegesin R, Hinkes BG, Hoskins B, Vlangos CN, Heeringa S, Liu J, Albalwi M, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F; Nephrology Dialysis Transplantion, 23(4):1291-7, 2008.

17. Ependymoma gene expression profiles associated with histological subtype, proliferation, and patient survival; Lukashova V, Zangen I, Kneitz S, Monoranu CM, Rutkowski S, Hinkes B, Vince GH, Huang B, Roggendorf W; Acta Neuropathologica, 113(3):325-37, 2007.

18. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome; Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu L, Hopcian J, Hildebrandt F. Pediatric Nephrology, 22(4):509-13, 2007.

19. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F; Kidney International, 70(6):1008-12, 2006.

20. Mutations in the Wilms’ Tumor 1 (WT1) gene cause isolated steroid resistant nephrotic syndrome and occured in exons 8 and 9; Mucha B, Ozaltin F, Hinkes B, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins B, Schulze-Everding A, Bogdanovic R, Seeman T, Hoppe B, Hilde-brandt F and Members of the APN Study Group; Ped Res, 59(2):325-31, 2006.

21. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum; Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M; Human Mutation, 2010 Sep;31(9):992-1002.

 

              C – Abstrakte/Vorträge

22. „Strawberry wees forever?“ – Fallbericht einer nicht parasitären Chylurie im Kindesalter; Hinkes B, Benz K, Galiano M, Köhler J, Rascher W, Hirsch K. Jahrestagung der deutschen Gesellschaft für pädiatrische Nephrologie (GPN) 2012, Heidelberg; Nieren und Hochdruckkrankheiten, 2012.

23. Neue COQ6 Mutation bei einem 6-jährigen Mädchen mit kongenitalem steroidresistentem nephrotischen Syndrom und Innenohrschwerhörigkeit – Substitutionstherapie mit CoenzymQ10; Benz M, Zenker M, Amann K, Hinkes B, Ponsel S, Lange-Sperandio B, Weber L. Jahrestagung der deutschen Gesellschaft für pädiatrische Nephrologie (GPN) 2012, Heidelberg; Nieren und Hochdruckkrankheiten, 2012.

24. Ein neue COL4A5 Mutation als Ursache eines X-chromosomalen Alport-Syndrom bei einer jugendlichen Patientin mit persitierender Mikro-hämaturie; Hinkes B, Dittrich K, Amann K, Rascher W; Jahrestagung der deutschen Gesellschaft für pädiatrische Nephrologie (GPN), Bamberg; Nieren und Hochdruckkrankheiten, 2011.

25. Studying a rare disease: two novel cases of NPHS3 caused by mutations of PLCE1; Hinkes B, Chernin G, Heeringa S, Schoeb D, Böckenhauer D, Soliman NA, Dötsch J, Hildebrandt F; Pediatric Nephrology Springmeeting 2009, Amsterdam, Pediatric Nephrology, 24:904, 2009.

26. Lack of response to immunosuppressive treatment in an infant with PLCE1 mutation; Thierfeld NK, Hinkes B, Querfeld U, Hildebrandt F, Müller D; Pediatric Nephrology Springmeeting 2009, Amsterdam, Pediatric Nephrology, 24:900, 2009.

27. Mutations in PLCE1/NPHS3 are a major cause of isolated diffuse mesangial sclerosis (IDMS); Gbadegesin R, Hinkes B, Vlangos C, Hoskins B, Liu J, Heeringa S, Wiggins R, Zenker M, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2007, San Francisco, USA, Jounal of the American Society of Nephrology, 18:101A, 2007.

28. A gene locus for nephrotic syndrome on chromosome 13q21; Heeringa S, Vlangos C, Hinkes B, Wolf M, Gbadegesin R, Liu J, Nurnberg G, Nurnberg P, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2007, San Francisco, USA, Journal of the American Society of Nephrology, 18:102A, 2007.

29. Novel mutations of NPHS1 in a worldwide cohort of patients with congenital nephrotic syndrome; Chernin G, Vlangos C, Heeringa S, Liu J, Ozaltin F, Hinkes B, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2007, San Francisco, USA, Journal of the American Society of Nephrology, 18:134A, 2007.

30. Nephropathy caused by genetic defects of laminin ß2: clinical and mutational spectrum; Zenker M, Matejas V, Hinkes B, Hildebrandt F; 38. Kongress der Gesellschaft für Nephrologie (GfN) und 40. Jahrestagung der Deutschen Arbeitsgemeinschaft für Klinische Nephrologie (DAGKN), Stuttgart, Nieren und Hochdruckkrankheiten, 2007.

31. Outcome and clinical prognostic factors in children with medulloblastoma: Long-term analysis of the prospective randomized trial HIT91; Von Hoff K, Hinkes B, Deinlein F, Mittler U, Urban C, Benesch M, Warmuth-Metz M, Soerensen N, Faldum A, Emser A, Schlegel PG, Pietsch T, Kortmann RD, Kuehl J, Rutkowski S; Neuro-Oncolgy 9(2), p193, 2007.

32. Positional Cloning Reveals PLCE1 Mutations as a New Cause of Recessive Nephrotic Syndrom; Hinkes B, Wiggins R, Gbadegesin R, Vlangos C, Garg P, Drummond I, Liu J, Hasselbacher K, Nürnberger P, Hildebrandt F; Annual Meeting of the Arbeitsgemeinschaft f?r Pädiatrische Nephrologie (APN), Pediatric Nephrology, 2007.

33. Positional cloning reveals PLCE1 mutations as a new cause of nephrotic syndrome; Hinkes B, Wiggins R, Gbadegeshin R, Vlangos C, Seelow D, Garg P, Verma R, Chaib H, Hoskins B, Ashraf S, Kelley G, Becker C, Hennies HC, Schachter A, Drummond I, Ozaltin F, Bakkaloglu A, Liu J, Attanasio M, Goyal M, O’Toole J, Hasselbacher K, Mucha B, Otto E, Nürnberg P, Smrcka A, Holzman L, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2006, San Diego, USA, Journal of the American Society of Nephrology, 17:92A, 2006.

34. Twelve cases of childhood pineoblastoma: Experiences from the prospective multicenter trilas HIT SKK87, SKK92 and HIT91; Hinkes B, Rutkowski S, et al.; 12th International Symposium on Pediatric Neuro-Oncology, International Society of Pediatric Neurooncology, Nara/Japan, Neuro-Oncolgy, 9(2), p193, 2006.

35. Genetic causes and clinical outcome of children manifesting with nephrotic syndrome in the first year of life: NPHS1, NPHS2, WT1 and LAMB2; Hinkes B, Mucha B, Vlangos C, Liu J, Hasselbacher K, Schultheiss M, Zenker M, Ozaltin F, Gbadegessin R, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2006, San Diego, USA, Journal of the American Society of Nephrology, 17:390A, 2006.

36. Podocin (NPHS2) and WT1 mutation in frequent relapsing and steroid dependent nephrotic syndrome (FRNS/SDNS); Gbadegesin R, Hinkes B, Vlangos C, Liu J, Hopcian J, Hildebrandt F. Annual meeting of the American Society of Nephrology (ASN) 2006, San Diego, USA, Journal of the American Society of Nephrology, 17:818A, 2006.

37. A strategy for candidate gene selection to identify mutations causing glomerulosclerosis; Wiggins R, Wharram B, Wiggins J, Goyal M, Gbadegesin R, Hinkes B, Mucha B, Vlangos C, Hasselbacher K, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN) 2006, San Diego, USA, 11/2006. Abstract: Journal of the American Society of Nephrology, 17:440A, 2006.

38. Gene expression profiles of ependymoma in relation to the proliferation index and outcome; Lukashova-von Zangen I, Kneitz S, Monoranu CM, Rutkowski S, Hinkes B, Vince G, Huang B, Roggendorf W; Acta Neuropathologica, 112(3), p375, 2006.

39. Clinical prognostic factors and long-term outcome of children with medulloblastoma treated in the randomized multicenter trial HIT91; von Hoff K, Hinkes B, Mittler U, Benesch M, Warmuth-Metz M, Soerensen N, Emser A, Deinlein F, Schlegel PG, Pietsch T, Kortmann RD, Kuehl J, Rutkowski S; Meeting of the International Society of Pediatric Oncology and Haematology, Geneva, Pediatric Blood and Cancer, 2006.

40. Genetic causes of nephrotic syndrome in the first year of life; Hinkes B, Mucha B, Hasselbacher K, Ozaltin F, Schultheiss M, Ruf R, Benz M, Zenker M, Gbadegesin R, Vlangos C and Hildebrandt F; Annual Meeting of the Arbeitsgemeinschaft f?r Pädiatrische Nephrologie (APN), Marburg, Pediatric Nephrology, 2006.

41. Genotype-phenotype correlation for age of onset in patients with nephrotic syndrome and NPHS2 mutations; Vlangos C, Hinkes B, Mucha B, Gbadegesin RA, Ozaltin F, Bakkaloglu A, Liu JH, Hasselbacher K, Hildebrandt F. Annual meeting of the American Society of Human Genetics 2006, New Orleans, USA, American Journal of Human Genetics, 2006.

42. Congenital nephrotic syndrome is primarily caused by mutations in nephrin, podocin, and WT1. Mucha B, Hinkes B, Ozaltin F, Schultheiss M, Ruf RG, Hasselbacher K, Bakkaloglu A, Hildebrandt F; Annual Meeting of the American Society of Nephrology (ASN), Philadephia, Journal of the American Society of Nephrology, 16:365A, 2005.

43. Mutations in the WT1 Gene cause isolated steroid-resistant nephrotic syndrome and occur in exons 8 and 9; Mucha B, Ozaltin F, Hinkes B, Hasselbacher K, Ruf RG, Schultheiss M, Bakkaloglu A, Hildebrandt F; Annual meeting of the American Society of Nephrology (ASN), Philadelphia, Journal of the American Society of Nephrology, 16:365A, 2005.

44. Recessive mutations in LAMB2 as a cause of congenital nephrotic syndrome (CNS); Hasselbacher K, Wiggins R, Mucha B, Hinkes B, Pohl M, Zenker M, Ozaltin F, Bakkaloglu A, Hagan D, Hildebrandt F; Annual Meeting of the American Society of Nephrology (ASN), Philadephia; Journal of the American Society of Nephrology, 16:92A, 2005.

45. Radiotherapy in pediatric atypical rhabdoid/teratoid tumours of the CNS (CNS-ATRT) – results from the German HIT-data base; Dannemann-Stern E, Schneiderbauer J, Hinkes B, Ittner K, Pietsch T, Warmuth-Metz M, Rutkowski S, Kortmann R; European Journal of Cancer, 3(2), p353, 2005.

46. CNS-ATRT incidence, survival and prognostic factors: A retrospective analysis of the HIT database; Hinkes B, Ittner K, Warmuth-Metz M, Soerensen N, Emser A, Pietsch T, Dannemann-Stern E, Kortmann R, Rutkowski S; Annual Meeting of the International Society of Pediatric Oncology and Haematology (SIOP), Vancouver, Pediatric Blood and Cancer, Vol. 45(4), p468, 2005.

47. Häufigkeit, prognostische Faktoren und Überleben von Kindern und Jugendlichen mit atypisch teratoiden/rhabdoiden (AT/RT) Tumoren des ZNS: Eine retrospektive Auswertung der HIT-Datenbank; Hinkes B, Emser A, Pietsch T, Rutkowski S; Annual meeting of the German Society of Pediatric Oncology and Haematology (GPOH), Stuttgart; Monatsschrift Kinderheilkunde, Vol. 153(4), p405, 2005.

48. Gene expression profiles of ependymoma: A microarray and clinico-pathological analysis; Lukashova-vonZangen I, Kneitz S,  Monoranu CM, Rutkowski S, Hinkes B, Vince G, Huang B, Roggendorf V; 8th European Congress of Neuropathology, Amsterdam, 2005.

49. Preradiation (PRE-RT-CTH) versus postradiation (POST-RT-CTH) chemotherapy in children with supratentorial PNET aged 3 to 18 years: results of the HIT´91 trial; Rutkowski S und Hinkes B, Deinlein F, Warmuth-Metz M, Sörensen N, Bode U, Graf N, Kaatsch P, Pietsch T, Kortmann R, and Kuehl J for the German Pediatric Brain Tumor Study Group; 11th International Symposium on Pediatric Neuro-Oncology at Harvard Medical School, Boston, USA; Neuro-Oncology 6(4), p470, 2005.

50. Regulation of neutrophil granulocyte movement by ion channels and transporters; Dreval V, Dieterich P, Hinkes B, Stock C, Schwab A; 83. Annual Meeting of the German Physiological Society, Bonn, European Journal of Physiology/Plügers Archiv, 2003.

51. Migration of neutrophil granulocytes on fibronectin is potassium channel independent; Hinkes B, Römer M, Wulf A, Dreval V, Schwab A; Joined annual meeting of the German, British and Skandinavian Physiological Societies, Tübingen, European Journal of Physiology/Plügers Archiv, Vol. 443, p234, 2002.

52. Fibroblast growth factor-2 stimulates cell locomotion and promotes the relocation of calciumsensitive K+ channels in migrating cells; Keßler W, Hinkes B, Römer M, Schulz C, Wulf A, Gekle M, Schwab A; Joined annual meeting of the German, British and Skandinavian Physiological Societies, Tübingen, European Journal of Physiology/Plügers Archiv, Vol. 443, p177, 2002.

53. Endocytosis of calcium-sensitive potassium channels (hIK1) in migrating cells; Römer M, Trost B, Hinkes B, Kessler W, Gasser B, Wulf A, Heppelmann B, Schwab A; Joined annual meeting of the German, British and Skandinavian Physiological Societies, Tübingen, European Journal of Physiology/Plügers Archiv, Vol. 443, p274, 2002.