Janecke AR - Search Results

1

A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations.

van Vugt AHM, Bijvelds MJC, de Jonge HR, Meijsen KF, Restin T, Bryant MB, Ballauff A, Koot B, Müller T, Houwen RHJ, Janecke AR, Middendorp S. van Vugt AHM, et al. Among authors: janecke ar. Clin Transl Gastroenterol. 2021 Nov 18;12(11):e00427. doi: 10.14309/ctg.0000000000000427. Clin Transl Gastroenterol. 2021. PMID: 34797252 Free PMC article.

2

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.

Müller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Frühwirth M, Offner F, Hofer S, Müller W, Booth IW, Heinz-Erian P. Müller T, et al. Gastroenterology. 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514. Gastroenterology. 2000. PMID: 11113072

3

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.

Müller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke AR, Bavdekar A, Pandit A, Weirich-Schwaiger H, Witt H, Ellemunter H, Deutsch J, Denk H, Müller W, Sternlieb I, Tanner MS, Wijmenga C. Müller T, et al. Among authors: janecke ar. J Hepatol. 2003 Feb;38(2):164-8. doi: 10.1016/s0168-8278(02)00356-2. J Hepatol. 2003. PMID: 12547404

4

Joubert-like syndrome unlinked to known candidate loci.

Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G. Janecke AR, et al. J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010. J Pediatr. 2004. PMID: 14760273

5

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA. Janecke AR, et al. J Pediatr. 2004 Nov;145(5):705-9. doi: 10.1016/j.jpeds.2004.07.024. J Pediatr. 2004. PMID: 15520786

6

A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.

Heinz-Erian P, Oberauer M, Neu N, Müller T, Scholl-Bürgi S, Hager J, Pittschieler K, Janecke AR. Heinz-Erian P, et al. Among authors: janecke ar. J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):363-6. doi: 10.1097/MPG.0b013e318174e818. J Pediatr Gastroenterol Nutr. 2008. PMID: 18728535 No abstract available.

7

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: janecke ar. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.

8

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

Sivagnanam M, Janecke AR, Müller T, Heinz-Erian P, Taylor S, Bird LM. Sivagnanam M, et al. Among authors: janecke ar. Clin Dysmorphol. 2010 Jan;19(1):48. doi: 10.1097/MCD.0b013e328331de38. Clin Dysmorphol. 2010. PMID: 20009592 Free PMC article. No abstract available.

9

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.

Zhang L, Müller T, Baenziger JU, Janecke AR. Zhang L, et al. Among authors: janecke ar. Prog Mol Biol Transl Sci. 2010;93:289-307. doi: 10.1016/S1877-1173(10)93012-3. Prog Mol Biol Transl Sci. 2010. PMID: 20807649 Review.

10

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".

Janecke AR, Baenziger JU, Müller T, Dündar M. Janecke AR, et al. Hum Mutat. 2011 Apr;32(4):484-5. doi: 10.1002/humu.21440. Hum Mutat. 2011. PMID: 21309034 No abstract available.

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