Burgemeister AL - Search Results

1

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Riedhammer KM, Burgemeister AL, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, Hertecant J, Kannouche PL, Pouvelle C, Htun S, Slavotinek AM, Beetz C, Diego-Alvarez D, Kampe K, Fleischer N, Awamleh Z, Weksberg R, Kopajtich R, Meitinger T, Suleiman J, El-Hattab AW. Riedhammer KM, et al. Among authors: burgemeister al. Hum Mol Genet. 2022 Sep 10;31(18):3083-3094. doi: 10.1093/hmg/ddac098. Hum Mol Genet. 2022. PMID: 35512351 Free PMC article.

2

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Suleiman J, et al. Among authors: burgemeister al. Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22. Hum Mutat. 2019. PMID: 31209944

3

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Burgemeister AL, Daumiller E, Dietze-Armana I, Klett C, Freiberg C, Stark W, Lingen M, Centonze I, Rettenberger G, Mehnert K, Zirn B. Burgemeister AL, et al. Am J Med Genet A. 2017 Mar;173(3):727-732. doi: 10.1002/ajmg.a.38063. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127864 Review.

4

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.

Burgemeister AL, Daumiller E, du Bois G, Graul-Neumann LM, Köhler B, Knecht S, Burgemeister S, Gronwald S, Maurer MH, Zirn B. Burgemeister AL, et al. Eur J Med Genet. 2019 Mar;62(3):210-216. doi: 10.1016/j.ejmg.2018.07.016. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031153

5

Menkes disease with discordant phenotype in female monozygotic twins.

Burgemeister AL, Zirn B, Oeffner F, Kaler SG, Lemm G, Rossier E, Büttel HM. Burgemeister AL, et al. Am J Med Genet A. 2015 Nov;167A(11):2826-9. doi: 10.1002/ajmg.a.37276. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239182 Free PMC article.

6

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

Rath MG, Fathali-Zadeh F, Langheinz A, Tchatchou S, Voigtländer T, Heil J, Golatta M, Schott S, Drasseck T, Behnecke A, Burgemeister AL, Evers C, Bugert P, Junkermann H, Schneeweiss A, Bartram CR, Sohn C, Sutter C, Burwinkel B. Rath MG, et al. Among authors: burgemeister al. Breast Cancer Res Treat. 2012 Jun;133(2):725-34. doi: 10.1007/s10549-011-1917-0. Epub 2012 Jan 8. Breast Cancer Res Treat. 2012. PMID: 22228431

7

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B. Surowy HM, et al. Among authors: burgemeister al. Breast Cancer Res Treat. 2014 Jun;145(2):451-60. doi: 10.1007/s10549-014-2943-5. Epub 2014 Apr 12. Breast Cancer Res Treat. 2014. PMID: 24728577

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