Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 39

1.

[Applicability of Neonatal Pain Scores depending on Level of Education and Work Experience in Child Care].

Kaiser J, Laffolie J, Kappesser J, Ehrhardt H, Utsch B, Hermann C.

Klin Padiatr. 2019 Mar;231(2):87-92. doi: 10.1055/a-0856-7296. Epub 2019 Mar 21. German.

PMID:
30900233
2.

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann BG, Mattheisen M, Nöthen MM, Ludwig M, Reutter H.

PLoS Genet. 2015 Mar 12;11(3):e1005024. doi: 10.1371/journal.pgen.1005024. eCollection 2015 Mar.

3.

Urinalysis in children and adolescents.

Utsch B, Klaus G.

Dtsch Arztebl Int. 2014 Sep 12;111(37):617-25; quiz 626. doi: 10.3238/arztebl.2014.0617. Review.

4.

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Reutter H, Draaken M, Pennimpede T, Wittler L, Brockschmidt FF, Ebert AK, Bartels E, Rösch W, Boemers TM, Hirsch K, Schmiedeke E, Meesters C, Becker T, Stein R, Utsch B, Mangold E, Nordenskjöld A, Barker G, Kockum CC, Zwink N, Holmdahl G, Läckgren G, Jenetzky E, Feitz WF, Marcelis C, Wijers CH, Van Rooij IA, Gearhart JP, Herrmann BG, Ludwig M, Boyadjiev SA, Nöthen MM, Mattheisen M.

Hum Mol Genet. 2014 Oct 15;23(20):5536-44. doi: 10.1093/hmg/ddu259. Epub 2014 May 22.

5.

[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options].

Bildau J, Enzensberger C, Degenhardt J, Kawecki A, Tenzer A, Kohl T, Stressig R, Ritgen J, Utsch B, Axt-Fliedner R.

Z Geburtshilfe Neonatol. 2014 Feb;218(1):18-26. doi: 10.1055/s-0034-1367042. Epub 2014 Mar 4. Review. German.

PMID:
24595911
6.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.

Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, Schröder A, Boemers TM, Bartels E, Vogt H, Utsch B, Müller M, Detlefsen B, Zwink N, Rogenhofer S, Gobet R, Beckers GM, Bökenkamp A, Kajbafzadeh AM, Jaureguizar E, Draaken M, Lakshmanan Y, Gearhart JP, Ludwig M, Nöthen MM, Jenetzky E.

J Pediatr. 2011 Nov;159(5):825-831.e1. doi: 10.1016/j.jpeds.2011.04.042. Epub 2011 Jun 16.

7.

A hospital-based intermittent nocturnal hemodialysis program for children and adolescents.

Hoppe A, von Puttkamer C, Linke U, Kahler C, Booss M, Braunauer-Kolberg R, Hofmann K, Joachimsky P, Hirte I, Schley S, Utsch B, Thumfart J, Briese S, Gellermann J, Zimmering M, Querfeld U, Müller D.

J Pediatr. 2011 Jan;158(1):95-9, 99.e1. doi: 10.1016/j.jpeds.2010.06.036. Epub 2010 Aug 9.

PMID:
20691454
8.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.

J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.

PMID:
19508969
9.

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

Utsch B, Brun-Heath I, Staatz G, Gravou-Apostolatou C, Karle S, Jacobs U, Ludwig M, Zenker M, Dörr HG, Rascher W, Mornet E, Dötsch J.

Exp Clin Endocrinol Diabetes. 2009 Jan;117(1):28-33. doi: 10.1055/s-2008-1073157. Epub 2008 Jun 3.

PMID:
18523927
10.

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.

Gambhir L, Höller T, Müller M, Schott G, Vogt H, Detlefsen B, Ebert AK, Fisch M, Beaudoin S, Stein R, Boyadjiev SA, Gearhart JP, Rösch W, Utsch B, Boemers TM, Reutter H, Ludwig M.

J Urol. 2008 Apr;179(4):1539-43. doi: 10.1016/j.juro.2007.11.092. Epub 2008 Mar 4.

11.

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.

Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.

Am J Med Genet A. 2007 Dec 15;143A(24):3161-8.

12.

Evidence of oligogenic inheritance in nephronophthisis.

Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Dêschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F.

J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.

13.

Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation.

Buderus S, Utsch B, Huebner A, Lentze MJ, Roth C.

Exp Clin Endocrinol Diabetes. 2007 Sep;115(8):533-6.

PMID:
17853339
14.

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

Brun-Heath I, Lia-Baldini AS, Maillard S, Taillandier A, Utsch B, Nunes ME, Serre JL, Mornet E.

Eur J Med Genet. 2007 Sep-Oct;50(5):367-78. Epub 2007 Jul 21.

PMID:
17719863
15.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F.

J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.

16.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M.

Am J Kidney Dis. 2006 Dec;48(6):942.e1-14.

PMID:
17162149
17.

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB.

Am J Med Genet A. 2006 Oct 15;140(20):2251-3. No abstract available.

PMID:
16969870
18.

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

Ludwig M, Utsch B, Monnens LA.

Nephrol Dial Transplant. 2006 Oct;21(10):2708-17. Epub 2006 Jul 20. Review. No abstract available.

PMID:
16861240
19.

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A.

Pediatr Nephrol. 2006 Sep;21(9):1241-50. Epub 2006 Jun 29.

PMID:
16807762
20.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F.

Nat Genet. 2006 Jun;38(6):674-81. Epub 2006 May 7.

PMID:
16682973
21.

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F.

Pediatr Nephrol. 2006 Jan;21(1):32-5. Epub 2005 Oct 21.

PMID:
16240161
22.

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

Ludwig M, Utsch B, Reutter H.

Urologe A. 2005 Sep;44(9):1037-8, 1040-4. Review. German.

PMID:
15973548
23.

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M, Doroszewicz J, Seyberth HW, Bökenkamp A, Balluch B, Nuutinen M, Utsch B, Waldegger S.

Hum Genet. 2005 Jul;117(2-3):228-37. Epub 2005 May 14.

PMID:
15895257
24.

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F.

Hum Mutat. 2005 Apr;25(4):411.

25.

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.

Wolf MT, Zalewski I, Martin FC, Ruf R, Müller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F.

Nephrol Dial Transplant. 2005 May;20(5):909-14. Epub 2005 Mar 1.

PMID:
15741201
26.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F.

Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20.

PMID:
15723066
27.

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

Consugar MB, Anderson SA, Rossetti S, Pankratz VS, Ward CJ, Torra R, Coto E, El-Youssef M, Kantarci S, Utsch B, Hildebrandt F, Sweeney WE, Avner ED, Torres VE, Cunningham JM, Harris PC.

Am J Kidney Dis. 2005 Jan;45(1):77-87.

PMID:
15696446
28.

Genetic and molecular aspects of hypospadias.

Utsch B, Albers N, Ludwig M.

Eur J Pediatr Surg. 2004 Oct;14(5):297-302. Review.

PMID:
15543478
29.

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B.

Hum Mol Genet. 2004 Nov 15;13(22):2841-51. Epub 2004 Sep 22.

PMID:
15385446
30.

Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene.

Ludwig M, Utsch B.

Am J Med Genet A. 2004 Aug 1;128A(4):434-5. No abstract available.

PMID:
15264294
31.

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.

Utsch B, Kaya A, Ozburun A, Lentze MJ, Albers N, Ludwig M.

Scand J Urol Nephrol. 2003;37(6):498-501.

PMID:
14675924
32.

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.

Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B.

Kidney Blood Press Res. 2003;26(3):176-84.

33.

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D.

Kidney Blood Press Res. 2002;25(6):354-62. Review.

34.
35.

Association of homozygous alpha-thalassaemia of the Southeast Asian type with hypospadias: still an intriguing enigma.

Utsch B, Hansmann M, Albers N, Lentze MJ, Bidlingmaier F, Ludwig M.

Fetal Diagn Ther. 2002 Mar-Apr;17(2):127-8. No abstract available.

PMID:
11844920
37.

Immature gastric teratoma of the lesser curvature in a male infant.

Utsch B, Fleischhack G, Knöpfle G, Hasan C, Bode U.

J Pediatr Gastroenterol Nutr. 2001 Feb;32(2):204-6. No abstract available.

PMID:
11321394
38.

Nephrotic syndrome as paraneoplastic syndrome of Hodgkin disease.

Utsch B, Fleischhack G, Hasan C, Bode U.

Eur J Pediatr. 1999 Sep;158(9):768. No abstract available.

PMID:
10485316
39.

Supplemental Content

Support Center