Publications by authors named "Boris Utsch"

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[Item Reduction to Improve Practicability of Neonatal Pain Assessment Tools - Comparison of NFCSshort and PIPP in Daily Clinical Practice].
Max Tischler, Judith Kappesser, Boris Utsch, Harald Ehrhardt, Christiane Hermann

Klin Padiatr· March 2022

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Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).
Peter Oppelt, Helge Binder, Jacques Birraux, Sara Brucker, Irene Dingeldein, Boris Utsch

Geburtshilfe Frauenheilkd· December 2021

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Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).
Peter Oppelt, Helge Binder, Jacques Birraux, Sara Brucker, Irene Dingeldein, Boris Utsch

Geburtshilfe Frauenheilkd· December 2021

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Estimated Glomerular Filtration Rates Calculated by New and Old Equations in Children and Adolescents With Type 1 Diabetes-What to Do With the Results?
Claudia Boettcher, Boris Utsch, Angela Galler, Corinna Grasemann, Martin Borkenstein

Front Endocrinol (Lausanne)· February 2021

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Transvascular kidney biopsy in adolescent patients-safe alternative to open procedures.
Boris Utsch, Hanno Hoppe, Katalin Dittrich, Kerstin Amann, Mathias Gugger

Clin Kidney J· January 2021

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[Applicability of Neonatal Pain Scores depending on Level of Education and Work Experience in Child Care].
Johanna Kaiser, Jan de Laffolie, Judith Kappesser, Harald Ehrhardt, Boris Utsch

Klin Padiatr· March 2019

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Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna M Schmidt, Anne-Karolin Ebert, Boris Utsch

PLoS Genet· March 2015

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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.
Heiko Reutter, Markus Draaken, Tracie Pennimpede, Lars Wittler, Felix F Brockschmidt, Boris Utsch

Hum Mol Genet· October 2014

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Urinalysis in children and adolescents.
Boris Utsch, Günter Klaus

Dtsch Arztebl Int· September 2014

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Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.
Heiko Reutter, Simeon A Boyadjiev, Lisa Gambhir, Anne-Karoline Ebert, Wolfgang H Rösch, Boris Utsch

J Pediatr· November 2011

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A hospital-based intermittent nocturnal hemodialysis program for children and adolescents.
Anne Hoppe, Christina von Puttkamer, Ursula Linke, Cindy Kahler, Martina Booss, Boris Utsch

J Pediatr· January 2011

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Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.
Boris Utsch, Colleen D McCabe, Kenneth Galbraith, Ricardo Gonzalez, Mark Born

Am J Med Genet A· December 2007

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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Isabelle Brun-Heath, Anne-Sophie Lia-Baldini, Stéphane Maillard, Agnès Taillandier, Boris Utsch

Eur J Med Genet· November 2007

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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Boris Utsch

J Med Genet· October 2007

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Evidence of oligogenic inheritance in nephronophthisis.
Julia Hoefele, Matthias T F Wolf, John F O'Toole, Edgar A Otto, Ulla Schultheiss, Boris Utsch

J Am Soc Nephrol· October 2007

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Novel OCRL1 mutations in patients with the phenotype of Dent disease.
Boris Utsch, Arend Bökenkamp, Marcus R Benz, Nesrin Besbas, Jörg Dötsch

Am J Kidney Dis· December 2006

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Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.
Michael Ludwig, Boris Utsch, Leo A H Monnens

Nephrol Dial Transplant· October 2006

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Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
Boris Utsch, Analisa DiFeo, Annegret Kujat, Stephanie Karle, Volker Schuster

Am J Med Genet A· October 2006

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Hypercalciuria in patients with CLCN5 mutations.
Michael Ludwig, Boris Utsch, Bernd Balluch, Stefan Fründ, Eberhard Kuwertz-Bröking

Pediatr Nephrol· September 2006

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
John A Sayer, Edgar A Otto, John F O'Toole, Gudrun Nurnberg, Michael A Kennedy, Boris Utsch

Nat Genet· June 2006

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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Boris Utsch, John A Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael Eccles

Pediatr Nephrol· January 2006

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Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
Michael Ludwig, Jolanta Doroszewicz, Hannsjörg W Seyberth, Arend Bökenkamp, Bernd Balluch, Boris Utsch

Hum Genet· July 2005

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Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Matthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, Rainer Ruf, Dominik Müller, Boris Utsch

Nephrol Dial Transplant· May 2005

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Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Boris Utsch

Hum Mutat· April 2005

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Boris Utsch

Nat Genet· March 2005

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