Engels H - Search Results

1

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. Dikow N, et al. Among authors: engels h. Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913520

2

Identification of supernumerary der(20) chromosomes by FISH in three patients.

Viersbach R, Engels H, Schwanitz G. Viersbach R, et al. Among authors: engels h. Am J Med Genet. 1997 Jun 13;70(3):278-83. Am J Med Genet. 1997. PMID: 9188666

3

Delineation of supernumerary marker chromosomes in 38 patients.

Viersbach R, Engels H, Gamerdinger U, Hansmann M. Viersbach R, et al. Among authors: engels h. Am J Med Genet. 1998 Apr 1;76(4):351-8. doi: 10.1002/(sici)1096-8628(19980401)76:4<351::aid-ajmg12>3.0.co;2-n. Am J Med Genet. 1998. PMID: 9545101

4

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H. Engels H, et al. Am J Med Genet. 2002 Aug 1;111(2):205-9. doi: 10.1002/ajmg.10560. Am J Med Genet. 2002. PMID: 12210352 Review.

5

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome.

von Bubnoff D, Kreiss-Nachtsheim M, Novak N, Engels E, Engels H, Behrend C, Propping P, de la Salle H, Bieber T. von Bubnoff D, et al. Among authors: engels e, engels h. Am J Med Genet A. 2004 Apr 30;126A(3):293-8. doi: 10.1002/ajmg.a.20592. Am J Med Genet A. 2004. PMID: 15054845

6

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H. Zahn S, et al. Among authors: engels h. Am J Med Genet A. 2005 Nov 15;139(1):19-24. doi: 10.1002/ajmg.a.30995. Am J Med Genet A. 2005. PMID: 16222663

7

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H. Gamerdinger U, et al. Among authors: engels h. Eur J Med Genet. 2006 May-Jun;49(3):225-34. doi: 10.1016/j.ejmg.2005.07.002. Epub 2005 Aug 19. Eur J Med Genet. 2006. PMID: 16762824

8

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber RG, Kornblum C. Netzer C, et al. Among authors: engels h. Acta Neurol Scand. 2006 Aug;114(2):133-8. doi: 10.1111/j.1600-0404.2006.00626.x. Acta Neurol Scand. 2006. PMID: 16867037

9

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A. Engels H, et al. Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471318 Free PMC article.

10

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O. Zechner U, et al. Among authors: engels h. Eur J Med Genet. 2009 Sep-Oct;52(5):306-10. doi: 10.1016/j.ejmg.2009.06.001. Epub 2009 Jun 21. Eur J Med Genet. 2009. PMID: 19545651

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