Wollmann HA - Search Results

1

Are H19 variants associated with Silver-Russell syndrome?

Schönherr N, Binder G, Korsch E, Kämmerer E, Wollmann HA, Eggermann T. Schönherr N, et al. Among authors: wollmann ha. J Pediatr Endocrinol Metab. 2008 Oct;21(10):985-93. doi: 10.1515/jpem.2008.21.10.985. J Pediatr Endocrinol Metab. 2008. PMID: 19209620

2

Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome.

Binder G, Mavridou K, Wollmann HA, Eggermann T, Ranke MB. Binder G, et al. Among authors: wollmann ha. J Pediatr Endocrinol Metab. 2002 Sep-Oct;15(8):1167-71. doi: 10.1515/jpem.2002.15.8.1167. J Pediatr Endocrinol Metab. 2002. PMID: 12387515

3

Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients.

Obermann C, Meyer E, Prager S, Tomiuk J, Wollmann HA, Eggermann T. Obermann C, et al. Among authors: wollmann ha. Mol Genet Metab. 2004 Jul;82(3):246-50. doi: 10.1016/j.ymgme.2004.04.008. Mol Genet Metab. 2004. PMID: 15234339

4

Diagnostic proceeding in Silver-Russell syndrome.

Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, Wollmann HA. Eggermann T, et al. Among authors: wollmann ha. Mol Diagn. 2005;9(4):205-9. doi: 10.1007/BF03260093. Mol Diagn. 2005. PMID: 16392900

5

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.

Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. Schönherr N, et al. Among authors: wollmann ha. J Med Genet. 2007 Jan;44(1):59-63. doi: 10.1136/jmg.2006.044370. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963484 Free PMC article.

6

The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.

Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB. Binder G, et al. Among authors: wollmann ha. J Clin Endocrinol Metab. 2008 Apr;93(4):1402-7. doi: 10.1210/jc.2007-1897. Epub 2008 Jan 29. J Clin Endocrinol Metab. 2008. PMID: 18230663

7

Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.

Eggermann K, Schönherr N, Ranke MB, Wollmann HA, Binder G, Eggermann T. Eggermann K, et al. Among authors: wollmann ha. Genet Test. 2008 Mar;12(1):111-3. doi: 10.1089/gte.2007.0075. Genet Test. 2008. PMID: 18307383

8

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T. Schönherr N, et al. Among authors: wollmann ha. J Pediatr Endocrinol Metab. 2007 Dec;20(12):1329-31. doi: 10.1515/jpem.2007.20.12.1329. J Pediatr Endocrinol Metab. 2007. PMID: 18341093

9

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients.

Schöherr N, Jäger S, Ranke MB, Wollmann HA, Binder G, Eggermann T. Schöherr N, et al. Among authors: wollmann ha. Eur J Med Genet. 2008 Jul-Aug;51(4):322-4. doi: 10.1016/j.ejmg.2008.05.001. Epub 2008 May 23. Eur J Med Genet. 2008. PMID: 18585117

10

LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.

Jäger S, Schönherr N, Spengler S, Ranke MB, Wollmann HA, Binder G, Eggermann T. Jäger S, et al. Among authors: wollmann ha. J Pediatr Endocrinol Metab. 2009 Jun;22(6):555-9. doi: 10.1515/jpem.2009.22.6.555. J Pediatr Endocrinol Metab. 2009. PMID: 19694203

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