Publications by authors named "Boris Utsch"

28Publications

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

Klin Padiatr 2019 Mar 21;231(2):87-92. Epub 2019 Mar 21.

Dept. of Psychology, University of Giessen, Giessen.

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http://dx.doi.org/10.1055/a-0856-7296DOI Listing
March 2019

Urinalysis in children and adolescents.

Dtsch Arztebl Int 2014 Sep;111(37):617-25; quiz 626

Center for Pediatric and Adolescent Medicine, Justus Liebig University, Gießen, KfH Pediatric Kidney Center, Marburg.

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http://dx.doi.org/10.3238/arztebl.2014.0617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4187024PMC
September 2014

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

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

Children Hospital, University of Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31967DOI Listing
December 2007

Evidence of oligogenic inheritance in nephronophthisis.

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

Departments of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1681/ASN.2007020243DOI Listing
October 2007

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

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

Equipe Structure-Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Université de Versailles-Saint Quentin en Yvelines, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120700076
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http://dx.doi.org/10.1016/j.ejmg.2007.06.005DOI Listing
November 2007

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

Nephrol Dial Transplant 2006 Oct 20;21(10):2708-17. Epub 2006 Jul 20.

Department of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.

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http://dx.doi.org/10.1093/ndt/gfl346DOI Listing
October 2006

Hypercalciuria in patients with CLCN5 mutations.

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

Department of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Germany.

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http://dx.doi.org/10.1007/s00467-006-0172-9DOI Listing
September 2006

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

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

Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, USA.

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http://dx.doi.org/10.1007/s00467-005-2054-yDOI Listing
January 2006

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

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

Institut für Klinische Biochemie, Universität Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-005-1303-2DOI Listing
July 2005

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

Hum Mutat 2005 Apr;25(4):411

Department of Pediatrics, Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1002/humu.9326DOI Listing
April 2005

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

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

Department of Pediatrics and Communicable Diseases, University of Michigan, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646, USA.

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http://dx.doi.org/10.1093/ndt/gfh754DOI Listing
May 2005

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

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

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1093/hmg/ddh306DOI Listing
November 2004

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

Am J Med Genet A 2004 Aug;128A(4):434-5

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http://dx.doi.org/10.1002/ajmg.a.30204DOI Listing
August 2004

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

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

Children's Hospital Medical Center, University of Bonn, Germany.

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http://www.tandfonline.com/doi/full/10.1080/0036559031001451
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http://dx.doi.org/10.1080/00365590310014517DOI Listing
May 2004

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

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

Department of Clinical Biochemistry, Medizinische Poliklinik, Division of Nephrology, University of Bonn, Germany.

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http://dx.doi.org/10.1159/000068695DOI Listing
September 2003