Huebner A - Search Results

1

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.

Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L. Palka C, et al. Among authors: huebner a. Clin Genet. 2010 Mar;77(3):298-301. doi: 10.1111/j.1399-0004.2009.01348.x. Clin Genet. 2010. PMID: 20447142 No abstract available.

2

Triple A syndrome: genotype-phenotype assessment.

Prpic I, Huebner A, Persic M, Handschug K, Pavletic M. Prpic I, et al. Among authors: huebner a. Clin Genet. 2003 May;63(5):415-7. doi: 10.1034/j.1399-0004.2003.00070.x. Clin Genet. 2003. PMID: 12752575

3

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Koehler K, Hackmann K, Landgraf D, Schubert T, Shakiba M, Kariminejad A, Huebner A. Koehler K, et al. Among authors: huebner a. Eur J Med Genet. 2019 Jul;62(7):103665. doi: 10.1016/j.ejmg.2019.05.004. Epub 2019 May 6. Eur J Med Genet. 2019. PMID: 31071487

4

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Handschug K, et al. Among authors: huebner a. Hum Mol Genet. 2001 Feb 1;10(3):283-90. doi: 10.1093/hmg/10.3.283. Hum Mol Genet. 2001. PMID: 11159947

5

Chromosomal fragility in patients with triple A syndrome.

Reshmi-Skarja S, Huebner A, Handschug K, Finegold DN, Clark AJ, Gollin SM. Reshmi-Skarja S, et al. Among authors: huebner a. Am J Med Genet A. 2003 Feb 15;117A(1):30-6. doi: 10.1002/ajmg.a.10846. Am J Med Genet A. 2003. PMID: 12548737

6

Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.

Mukhopadhya A, Danda S, Huebner A, Chacko A. Mukhopadhya A, et al. Among authors: huebner a. World J Gastroenterol. 2006 Aug 7;12(29):4764-6. doi: 10.3748/wjg.v12.i29.4764. World J Gastroenterol. 2006. PMID: 16937455 Free PMC article.

7

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

Milenković T, Koehler K, Krumbholz M, Zivanović S, Zdravković D, Huebner A. Milenković T, et al. Among authors: huebner a. Eur J Pediatr. 2008 Sep;167(9):1049-55. doi: 10.1007/s00431-007-0640-7. Epub 2008 Jan 3. Eur J Pediatr. 2008. PMID: 18172684

8

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A. Koehler K, et al. Among authors: huebner a. Eur J Hum Genet. 2008 Dec;16(12):1499-506. doi: 10.1038/ejhg.2008.132. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628786

9

Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.

Krull I, M-Woelfle M, Bärlocher K, Koehler K, Huebner A, Brändle M. Krull I, et al. Among authors: huebner a. Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):530-6. doi: 10.1055/s-0030-1247516. Epub 2010 Mar 3. Exp Clin Endocrinol Diabetes. 2010. PMID: 20200814

10

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Dumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. Dumić M, et al. Among authors: huebner a. Eur J Pediatr. 2011 Mar;170(3):393-6. doi: 10.1007/s00431-010-1314-4. Epub 2010 Oct 8. Eur J Pediatr. 2011. PMID: 20931227

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