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152 results

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Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: kirchhoff m. Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292. Am J Med Genet A. 2010. PMID: 20186789
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. Ullmann R, et al. Among authors: kirchhoff m. Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546. Hum Mutat. 2007. PMID: 17480035
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S. Bartholdi D, et al. Among authors: kirchhoff m. Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664804 Free article.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: kirchhoff m. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Tzschach A, et al. Among authors: kirchhoff m. Eur J Hum Genet. 2010 Mar;18(3):291-5. doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844253 Free PMC article.
152 results