Gabriele du Bois
Overview
Explore the profile of Gabriele du Bois including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
120
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Recent Articles
1.
Burgemeister A, Daumiller E, du Bois G, Graul-Neumann L, Kohler B, Knecht S, et al.
Eur J Med Genet
. 2018 Jul;
62(3):210-216.
PMID: 30031153
49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and speech dyspraxia are cardinal symptoms. Testicular insufficiency becomes apparent during...
2.
Hortnagel K, Krageloh-Mann I, Bornemann A, Docker M, Biskup S, Mayrhofer H, et al.
J Inherit Metab Dis
. 2016 Jul;
39(6):849-857.
PMID: 27473128
Vesicular protein sorting-associated proteins (VPS, including VPS11) are indispensable in the endocytic network, in particular the endosome-lysosome biogenesis. Exome sequencing revealed the homozygous variant p.Leu387_ Gly395del in the VPS11 gene...
3.
Frank V, den Hollander A, Bruchle N, Zonneveld M, Nurnberg G, Becker C, et al.
Hum Mutat
. 2007 Aug;
29(1):45-52.
PMID: 17705300
Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3...
4.
Frank V, Bruchle N, Mager S, Frints S, Bohring A, du Bois G, et al.
Hum Mutat
. 2007 Apr;
28(6):638-9.
PMID: 17437276
Meckel-Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early developmental anomalies of the central nervous system, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial...
5.
Kehrer-Sawatzki H, Daumiller E, Muller-Navia J, Kendziorra H, Rossier E, du Bois G, et al.
Prenat Diagn
. 2005 Aug;
25(10):954-9.
PMID: 16088867
Objectives: To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed interstitial deletion 10q25.2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25...