Schüler HM - Search Results

1

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

2

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. Among authors: schuler hm. 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

3

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. 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.

4

A new case of proximal monosomy 1p36, extending the phenotype.

Rudnik-Schöneborn S, Zerres K, Häusler M, Lott A, Krings T, Schüler HM. Rudnik-Schöneborn S, et al. Among authors: schuler hm. Am J Med Genet A. 2008 Aug 1;146A(15):2018-22. doi: 10.1002/ajmg.a.32405. Am J Med Genet A. 2008. PMID: 18627049 No abstract available.

5

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

6

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

7

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. 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

8

Further arguments for non-fortuitous association of Potter sequence with XYY males.

Rudnik-Schöneborn S, Schüler HM, Schwanitz G, Hansmann M, Zerres K. Rudnik-Schöneborn S, et al. Among authors: schuler hm. Ann Genet. 1996;39(1):43-6. Ann Genet. 1996. PMID: 9297443 Review.

9

Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus.

Zerres K, Schüler H, Gembruch U, Bald R, Hansmann M, Schwanitz G. Zerres K, et al. Hum Genet. 1992 May;89(3):301-4. doi: 10.1007/BF00220545. Hum Genet. 1992. PMID: 1601421 Review.

10

Homozygosity of a 6/18 translocation in a hydatidiform mole.

Schwanitz G, Zerres K, Schüler H. Schwanitz G, et al. Ann Genet. 1990;33(2):117-9. Ann Genet. 1990. PMID: 2241086

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