Schüler H - Search Results

1

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.

Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M. Schwanitz G, et al. Among authors: schuler h. Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357605

2

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schüler H, Korsch E, Schwanitz G. Eggermann T, et al. Among authors: schuler h. Am J Med Genet A. 2005 Apr 30;134(3):305-8. doi: 10.1002/ajmg.a.30631. Am J Med Genet A. 2005. PMID: 15723300 Review.

3

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann T, Schüler HM. Roos A, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. doi: 10.1002/ajmg.a.32465. Am J Med Genet A. 2008. PMID: 18698619

4

Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

Elbracht M, Roos A, Schönherr N, Busse S, Damen R, Zerres K, Rudnik-Schöneborn S, Schüler HM. Elbracht M, et al. Am J Med Genet A. 2009 Nov;149A(11):2547-50. doi: 10.1002/ajmg.a.33086. Am J Med Genet A. 2009. PMID: 19876899

5

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Meyer R, et al. Among authors: schuler h. Clin Genet. 2020 Oct;98(4):408-412. doi: 10.1111/cge.13819. Epub 2020 Aug 19. Clin Genet. 2020. PMID: 32720325

6

Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees.

Engels H, Eggermann T, Caliebe A, Jelska A, Schubert R, Schüler HM, Panasiuk B, Zaremba J, Latos-Bieleńska A, Jakubowski L, Zerres KP, Schwanitz G, Midro AT. Engels H, et al. Among authors: schuler hm. Am J Med Genet A. 2008 Oct 15;146A(20):2611-6. doi: 10.1002/ajmg.a.32500. Am J Med Genet A. 2008. PMID: 18798317

7

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Roos A, et al. Among authors: schuler hm. Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. doi: 10.1016/j.ejmg.2006.06.002. Epub 2006 Aug 4. Eur J Med Genet. 2006. PMID: 16905374

8

Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q.

Roos A, Eggermann T, Zerres K, Schüler HM. Roos A, et al. Among authors: schuler hm. Am J Med Genet A. 2008 Mar 15;146A(6):795-8. doi: 10.1002/ajmg.a.32222. Am J Med Genet A. 2008. PMID: 18257101 No abstract available.

9

A phenotype map for 14q32.3 terminal deletions.

Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H. Engels H, et al. Among authors: schuler hm. Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24. Am J Med Genet A. 2012. PMID: 22367666

10

Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature.

Eggermann K, Bergmann C, Heil I, Eggermann T, Zerres K, Schüler HM. Eggermann K, et al. Am J Med Genet A. 2005 Apr 15;134A(2):226-8. doi: 10.1002/ajmg.a.30551. Am J Med Genet A. 2005. PMID: 15633181 Review. No abstract available.

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