PuSH - Publication Server of Helmholtz Zentrum München

24 Records found.
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1.
Becker, K.* et al.: Meta-analysis of genome-wide association studies and network analysis-based integration with gene expression data identify new suggestive loci and unravel a Wnt-centric network associated with Dupuytren's disease. PLoS ONE 11:e0158101 (2016)
2.
Bögershausen, N.* et al.: Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum. Mutat. 37, 847-864 (2016)
3.
Lal, D.* et al.: Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet. 11:e1005226 (2015)
4.
Reinthaler, E.M.* et al.: 16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum. Mol. Genet. 23, 6069-6080 (2014)
5.
Lal, D.* et al.: Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 54, 265-271 (2013)
6.
Kumar, S.* et al.: Gsdma3I359N is a novel ENU-induced mutant mouse line for studying the function of Gasdermin A3 in the hair follicle and epidermis. J. Dermatol. Sci. 67, 190-192 (2012)
7.
Steffens, M.* et al.: Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum. Mol. Genet. 21, 5359-5372 (2012)
8.
Dolmans, G.H.* et al.: Wnt signaling and Dupuytren's disease. N. Engl. J. Med. 365, 307-317 (2011)
9.
Heeringa, S.F.* et al.: COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121, 2013-2024 (2011)
10.
de Kovel, C.G.F.* et al.: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133, 23-32 (2010)
11.
O'Toole, J.F.* et al.: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120, 791-802 (2010)
12.
Truong, T.* et al.: Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: A pooled analysis from the International Lung Cancer Consortium. J. Natl. Cancer Inst. 102, 959-971 (2010)
13.
Lu, T.T.* et al.: An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. Eur. J. Hum. Genet. 17, 967-975 (2009)
14.
Puk, O. et al.: A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: A novel model for dry-eye disease? Invest. Ophthalmol. Vis. Sci. 50, 4311-4318 (2009)
15.
Lao, O.* et al.: Correlation between genetic and geographic structure in Europe. Curr. Biol. 18, 1241-1248 (2008)
16.
Puk, O. et al.: Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Invest. Ophthalmol. Vis. Sci. 49, 1525-1532 (2008)
17.
Rutsch, F.* et al.: Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ. Cardiovasc. Genet. 1, 133-40 (2008)
18.
Hoffmann, K.* et al.: A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia 50, 418-1422 (2007)
19.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)
20.
Steffens, M.* et al.: SNP-based analysis of genetic substructure in the Germany population. Hum. Hered. 62, 20-29 (2006)