PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[Boesch, S.* & Zech, M. AOPEP-related autosomal recessive dystonia: Update on Zech-Boesch syndrome. J. Med. Genet. 62, 388-395 (2025)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73795&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=73795&la=de Fri, 09 May 2025 00:00:00 +0000 <![CDATA[de Sainte Agathe, J.M.* et al. ARF1-related disorder: Phenotypic and molecular spectrum. J. Med. Genet. 60, 999-1005 (2023)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67799&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67799&la=de Fri, 06 Oct 2023 00:00:00 +0000 <![CDATA[Laugwitz, L.* et al. Human COQ4 deficiency: Delineating the clinical, metabolic and neuroimaging phenotypes. J. Med. Genet. 59, 878–887 (2022)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63760&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63760&la=de Fri, 17 Dec 2021 00:00:00 +0000 <![CDATA[Liu, Z.* et al. Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy. J. Med. Genet. 59, 351-357 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61735&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61735&la=de Wed, 26 May 2021 00:00:00 +0000 <![CDATA[Schalk, A.* et al. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J. Med. Genet. 59, 965-975 (2021)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63850&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=63850&la=de Wed, 02 Feb 2022 00:00:00 +0000 <![CDATA[Krenn, M.* et al. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. J. Med. Genet. 57, 624-633 (2020)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58361&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=58361&la=de Mon, 04 May 2020 00:00:00 +0000 <![CDATA[Beyerlein, A. et al. Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: Results from the prospective TEDDY study. J. Med. Genet. 56, 602-605 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54471&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54471&la=de Mon, 22 Oct 2018 00:00:00 +0000 <![CDATA[Milev, M.P.* et al. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. J. Med. Genet. 55, 753-764 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54242&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54242&la=de Thu, 20 Sep 2018 00:00:00 +0000 <![CDATA[Röeben, B.* et al. SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52664&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52664&la=de Fri, 05 Jan 2018 00:00:00 +0000 <![CDATA[Platzer, K.* et al. GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54, 460-470 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50893&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=50893&la=de Mon, 03 Jul 2017 00:00:00 +0000 <![CDATA[Reijnders, M.R.* et al. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J. Med. Genet. 55, 104-113 (2017)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52268&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52268&la=de Thu, 16 Nov 2017 00:00:00 +0000 <![CDATA[Alston, C.L.* et al. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48437&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=48437&la=de Thu, 21 Apr 2016 00:00:00 +0000 <![CDATA[Koch, J.* et al. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270-278 (2016)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47709&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47709&la=de Wed, 03 Feb 2016 00:00:00 +0000 <![CDATA[Hollstein, R.* et al. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J. Med. Genet. 52, 797-803 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47260&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47260&la=de Sat, 31 Dec 2016 00:00:00 +0000 <![CDATA[Jackson, C.B.* et al. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J. Med. Genet. 51, 170-175 (2014)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29084&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=29084&la=de Mon, 27 Jan 2014 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7142&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7142&la=de Wed, 08 Feb 2012 00:00:00 +0000 <![CDATA[Haack, T.B. et al. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7501&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7501&la=de Wed, 06 Jun 2012 00:00:00 +0000 <![CDATA[Klopocki, E.* et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J. Med. Genet. 49, 119-125 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7186&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7186&la=de Tue, 28 Feb 2012 00:00:00 +0000 <![CDATA[Sharma, M.* et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J. Med. Genet. 49, 721-726 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11263&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=11263&la=de Thu, 06 Dec 2012 00:00:00 +0000 <![CDATA[van den Bosch, B.J.* et al. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J. Med. Genet. 49, 10-15 (2012)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7107&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=7107&la=de Wed, 08 Feb 2012 00:00:00 +0000 <![CDATA[Rivera-Brugues, N. et al. Cohen syndrome diagnosis using whole genome arrays. J. Med. Genet. 48, 136-140 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4746&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4746&la=de Thu, 16 Dec 2010 00:00:00 +0000 <![CDATA[Schormair, B. et al. MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease. J. Med. Genet. 48, 462-466 (2011)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1778&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=1778&la=de Tue, 26 Jul 2011 00:00:00 +0000 <![CDATA[Kemlink, D. et al. Replication of restless legs syndrome loci in three European populations. J. Med. Genet. 46, 315-318 (2009)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=366&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=366&la=de Thu, 09 Jul 2009 00:00:00 +0000 <![CDATA[Koolen, D.A.* et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J. Med. Genet. 45, 710-720 (2008)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2208&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2208&la=de Tue, 21 Oct 2008 00:00:00 +0000 <![CDATA[Sharma, M.* et al. The Sepiapterin reductase gene region reveals association in the PARK3 locus: Analysis of familial and sporadic Parkinson disease in European populations. J. Med. Genet. 43, 557-562 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2266&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2266&la=de Sun, 31 Dec 2006 00:00:00 +0000 <![CDATA[Vollmert, C. et al. Significant association of a M129V independent polymorphism in the 5'UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. J. Med. Genet. 43:e53 (2006)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=635&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=635&la=de Sun, 31 Dec 2006 00:00:00 +0000 <![CDATA[Heid, I.M. et al. Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J. Med. Genet. 42, [Umf.21S.] (2005)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3856&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=3856&la=de Sat, 31 Dec 2005 00:00:00 +0000 <![CDATA[Rost, I.* et al. Tetrasomy 21pter-q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation. J. Med. Genet. 41, 1-7 (2004)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2998&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=2998&la=de Mon, 24 May 2004 00:00:00 +0000 <![CDATA[Weidinger, S.* et al. Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults. J. Med. Genet. 41, 658-663 (2004)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4427&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=4427&la=de Sat, 06 Nov 2004 00:00:00 +0000 <![CDATA[Kraus, J. et al. A familiy unbalanced subtelomeric translocation resulting in monosomy 6q27-qter. J. Med. Genet. 40, 1-5 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10059&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10059&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Kraus, J. ; Cohen, M.* & Speicher, M.R. Multicolor FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion. J. Med. Genet. 40, 1-4 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10060&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10060&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Meins, M.* et al. Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q 11.2 in a child with typical cat eye syndrome. J. Med. Genet. 40, 1-4 (2003)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10061&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10061&la=de Wed, 31 Dec 2003 00:00:00 +0000 <![CDATA[Santhiya, S.T. et al. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. J. Med. Genet. 39, 352-358 (2002)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10062&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=10062&la=de Mon, 05 Aug 2002 00:00:00 +0000