Dötsch J - Search Results

1

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. Utsch B, et al. Among authors: dotsch j. Am J Med Genet A. 2007 Dec 15;143A(24):3161-8. doi: 10.1002/ajmg.a.31967. Am J Med Genet A. 2007. PMID: 17935235 Free article.

2

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. Utsch B, et al. Among authors: dotsch j. Am J Med Genet A. 2006 Oct 15;140(20):2251-3. doi: 10.1002/ajmg.a.31454. Am J Med Genet A. 2006. PMID: 16969870 No abstract available.

3

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. Utsch B, et al. Among authors: dotsch j. Am J Kidney Dis. 2006 Dec;48(6):942.e1-14. doi: 10.1053/j.ajkd.2006.08.018. Am J Kidney Dis. 2006. PMID: 17162149

4

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. Utsch B, et al. Among authors: dotsch j. Exp Clin Endocrinol Diabetes. 2009 Jan;117(1):28-33. doi: 10.1055/s-2008-1073157. Epub 2008 Jun 3. Exp Clin Endocrinol Diabetes. 2009. PMID: 18523927

5

Transvascular kidney biopsy in adolescent patients-safe alternative to open procedures.

Utsch B, Hoppe H, Dittrich K, Amann K, Gugger M, Tschumi S, Galiano M, Plank C, Rascher W, Schmid A, Uder M, Dötsch J. Utsch B, et al. Among authors: dotsch j. Clin Kidney J. 2020 Jun 18;14(1):451-453. doi: 10.1093/ckj/sfaa092. eCollection 2021 Jan. Clin Kidney J. 2020. PMID: 33564456 Free PMC article. No abstract available.

6

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.

Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM. Zenker M, et al. Among authors: dotsch j. Am J Med Genet A. 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. Am J Med Genet A. 2004. PMID: 15372515 Review.

7

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Kraus C, Reis A, Naehrlich L, Dötsch J, Korbmacher C, Rauh R. Kraus C, et al. Among authors: dotsch j. Cell Physiol Biochem. 2007;19(5-6):239-48. doi: 10.1159/000100643. Cell Physiol Biochem. 2007. PMID: 17495464

8

No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome.

Struwe E, Krammer K, Dötsch J, Metzler M, Dörr HG, Cesnjevar R, Rascher W, Koch A. Struwe E, et al. Among authors: dotsch j. Pediatr Cardiol. 2006 Sep-Oct;27(5):636-9. doi: 10.1007/s00246-005-1049-6. Epub 2006 Aug 30. Pediatr Cardiol. 2006. PMID: 16944335

9

Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.

Broekaert IJ, Becker K, Gottschalk I, Körber F, Dötsch J, Thiele H, Altmüller J, Nürnberg P, Hünseler C, Cirak S. Broekaert IJ, et al. Among authors: dotsch j. J Med Genet. 2018 Sep;55(9):637-640. doi: 10.1136/jmedgenet-2018-105262. Epub 2018 Apr 16. J Med Genet. 2018. PMID: 29661969

10

Decreased sensitivity to insulin-like growth factor I as a cause of growth failure in Turner's syndrome?

Kiess W, Dötsch J, Siebler T. Kiess W, et al. Among authors: dotsch j. Eur J Clin Invest. 1997 Jul;27(7):548-9. doi: 10.1046/j.1365-2362.1997.1650713.x. Eur J Clin Invest. 1997. PMID: 9263739 Review. No abstract available.

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