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Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.
Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA. Zink AM, et al. Among authors: brockschmidt ff. Mol Syndromol. 2014 Feb;5(2):65-75. doi: 10.1159/000357962. Epub 2014 Jan 29. Mol Syndromol. 2014. PMID: 24715853 Free PMC article.
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. Among authors: brockschmidt ff. 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.
De novo microduplication at 22q11.21 in a patient with VACTERL association.
Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H. Schramm C, et al. Among authors: brockschmidt ff. Eur J Med Genet. 2011 Jan-Feb;54(1):9-13. doi: 10.1016/j.ejmg.2010.09.001. Epub 2010 Sep 16. Eur J Med Genet. 2011. PMID: 20849991
Evidence for a polygenic contribution to androgenetic alopecia.
Heilmann S, Brockschmidt FF, Hillmer AM, Hanneken S, Eigelshoven S, Ludwig KU, Herold C, Mangold E, Becker T, Kruse R, Knapp M, Nöthen MM. Heilmann S, et al. Among authors: brockschmidt ff. Br J Dermatol. 2013 Oct;169(4):927-30. doi: 10.1111/bjd.12443. Br J Dermatol. 2013. PMID: 23701444
Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss.
Redler S, Dobson K, Drichel D, Heilmann S, Wolf S, Brockschmidt FF, Tazi-Ahnini R, Birch P, Teßmann P, Giehl KA, Kruse R, Lutz G, Garcia Bartels N, Hanneken S, Wolff H, Böhm M, Becker T, Blume-Peytavi U, Nöthen MM, Messenger AG, Betz RC. Redler S, et al. Among authors: brockschmidt ff. J Dermatol Sci. 2013 Nov;72(2):186-8. doi: 10.1016/j.jdermsci.2013.06.012. Epub 2013 Jul 16. J Dermatol Sci. 2013. PMID: 23928227 No abstract available.
First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.
Roeske D, Ludwig KU, Neuhoff N, Becker J, Bartling J, Bruder J, Brockschmidt FF, Warnke A, Remschmidt H, Hoffmann P, Müller-Myhsok B, Nöthen MM, Schulte-Körne G. Roeske D, et al. Among authors: brockschmidt ff. Mol Psychiatry. 2011 Jan;16(1):97-107. doi: 10.1038/mp.2009.102. Epub 2009 Sep 29. Mol Psychiatry. 2011. PMID: 19786962
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
Schramm C, Draaken M, Bartels E, Boemers TM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Baudisch F, Priebe L, Hoffmann P, Zink AM, Engels H, Brockschmidt FF, Aretz S, Nöthen MM, Ludwig M, Reutter H. Schramm C, et al. Among authors: brockschmidt ff. Am J Med Genet A. 2011 Feb;155A(2):445-9. doi: 10.1002/ajmg.a.33820. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271671 No abstract available.
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC. Forstbauer LM, et al. Among authors: brockschmidt ff. Eur J Hum Genet. 2012 Mar;20(3):326-32. doi: 10.1038/ejhg.2011.185. Epub 2011 Oct 26. Eur J Hum Genet. 2012. PMID: 22027810 Free PMC article.
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.
Brockschmidt FF, Heilmann S, Ellis JA, Eigelshoven S, Hanneken S, Herold C, Moebus S, Alblas MA, Lippke B, Kluck N, Priebe L, Degenhardt FA, Jamra RA, Meesters C, Jöckel KH, Erbel R, Harrap S, Schumacher J, Fröhlich H, Kruse R, Hillmer AM, Becker T, Nöthen MM. Brockschmidt FF, et al. Br J Dermatol. 2011 Dec;165(6):1293-302. doi: 10.1111/j.1365-2133.2011.10708.x. Br J Dermatol. 2011. PMID: 22032556
Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.
Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, Tung JY, Eriksson N, Redler S, Betz RC, Li R, Kárason A, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Richards JB, Becker T, Brockschmidt FF, Hinds DA, Nöthen MM. Heilmann S, et al. Among authors: brockschmidt ff. J Invest Dermatol. 2013 Jun;133(6):1489-96. doi: 10.1038/jid.2013.43. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358095 Free article.
36 results