Engels H - Search Results

1

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: engels h. Hum Genet. 2017 Mar;136(3):297-305. doi: 10.1007/s00439-017-1757-z. Epub 2017 Jan 25. Hum Genet. 2017. PMID: 28124119

2

Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18.

Eggermann T, Engels H, Heidrich-Kaul C, Moderau I, Schwanitz G. Eggermann T, et al. Among authors: engels h. Hum Genet. 1997 Apr;99(4):521-2. doi: 10.1007/s004390050399. Hum Genet. 1997. PMID: 9099844

3

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Wieczorek D, Engels H, Viersbach R, Henke B, Schwanitz G, Passarge E. Wieczorek D, et al. Among authors: engels h. J Med Genet. 1998 Jul;35(7):545-53. doi: 10.1136/jmg.35.7.545. J Med Genet. 1998. PMID: 9678698 Free PMC article.

4

The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3).

Rempel N, Heyers S, Engels H, Sleegers E, Steinlein OK. Rempel N, et al. Among authors: engels h. Hum Genet. 1998 Dec;103(6):645-53. doi: 10.1007/s004390050885. Hum Genet. 1998. PMID: 9921897

5

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

6

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H. Brenk CH, et al. Among authors: engels h. Eur J Hum Genet. 2007 Jan;15(1):35-44. doi: 10.1038/sj.ejhg.5201718. Epub 2006 Oct 4. Eur J Hum Genet. 2007. PMID: 17024214

7

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: engels h. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476

8

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.

9

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Berkel S, et al. Among authors: engels h. Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473310

10

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D. Kuechler A, et al. Among authors: engels h. Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739578

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