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Ute Grasshoff

Explore the profile of Ute Grasshoff including associated specialties, affiliations and a list of published articles. Areas
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Articles 46
Citations 949
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Recent Articles
21.
Hinreiner S, Wieczorek D, Mueller D, Roedl T, Thiel G, Grasshoff U, et al.
Am J Med Genet C Semin Med Genet . 2018 Sep; 178(2):198-205. PMID: 30182445
Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in...
22.
Loffler M, Steinhilber J, Hilke F, Haen S, Bosmuller H, Montes-Mojarro I, et al.
BMC Med Genet . 2018 Aug; 19(1):144. PMID: 30111295
Background: The PTEN-hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in Phosphatase and Tensin homolog (PTEN) and predisposes to the development of several typical malignancies. Whereas PTEN mutations have been implicated...
23.
Frints S, Ozanturk A, Rodriguez Criado G, Grasshoff U, de Hoon B, Field M, et al.
Mol Psychiatry . 2018 May; 24(11):1748-1768. PMID: 29728705
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We...
24.
Kuechler A, Czeschik J, Graf E, Grasshoff U, Huffmeier U, Busa T, et al.
Eur J Hum Genet . 2016 Dec; 25(2):183-191. PMID: 27901041
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical...
25.
Ehret J, Engels H, Cremer K, Becker J, Zimmermann J, Wohlleber E, et al.
Mol Cytogenet . 2015 Oct; 8:72. PMID: 26421060
Background: Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other...
26.
Kehrer M, Liehr T, Benkert T, Singer S, Grasshoff U, Schaeferhoff K, et al.
Am J Med Genet A . 2015 Feb; 167A(3):653-6. PMID: 25691419
Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date....
27.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, et al.
Eur J Hum Genet . 2015 Feb; 23(11):1513-8. PMID: 25649377
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has...
28.
Poulton C, Schot R, Seufert K, Lequin M, Accogli A, D Annunzio G, et al.
Am J Med Genet A . 2014 May; 164A(9):2161-71. PMID: 24842779
Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability...
29.
Schroeder C, Ekici A, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, et al.
Eur J Hum Genet . 2014 May; 22(10):1233-5. PMID: 24801762
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. It may occur as isodisomy, heterodisomy or a combination of both and may involve only...
30.
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schroder W, Borck G, et al.
Mol Genet Genomic Med . 2014 Apr; 2(2):176-85. PMID: 24689081
Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing...