Journal of Medical Genetics

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BMJ Publishing Group
 
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  • 2021 | Journal Article | Research Paper | 
    ​ ​Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state​
    Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al.​ (2021) 
    Journal of Medical Genetics, 59(6) pp. 549​-553​.​ DOI: https://doi.org/10.1136/jmedgenet-2021-107769 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article
    ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
    Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
    Journal of Medical Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    ​Details  DOI 
  • 2018 | Journal Article | Research Paper
    ​ ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al.​ (2018) 
    Journal of Medical Genetics, 55(12) pp. 837​-846​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105528 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Accurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNA​
    Jann, J.-C.; Nowak, D.; Nolte, F.; Fey, S.; Nowak, V.; Obländer, J. & Pressler, J. et al.​ (2017) 
    Journal of Medical Genetics, 54(9) pp. 640​-650​.​ DOI: https://doi.org/10.1136/jmedgenet-2017-104528 
    ​Details  DOI 
  • 2016 | Journal Article | Research Paper
    ​ ​Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene​
    Edvardson, S.; Kose, S.; Jalas, C.; Fattal-Valevski, A.; Watanabe, A.; Ogawa, Y. & Mamada, H. et al.​ (2016) 
    Journal of Medical Genetics, 53(2) pp. 132​-137​.​ DOI: https://doi.org/10.1136/jmedgenet-2015-103232 
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  • 2013 | Journal Article | Research Paper
    ​ ​West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation​
    Banne, E.; Atawneh, O.; Henneke, M.; Brockmann, K. ; Gärtner, J. ; Elpeleg, O. & Edvardson, S.​ (2013) 
    Journal of Medical Genetics, 50(11) pp. 772​-775​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101752 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype​
    Zweier, C.; Kraus, C. ; Brueton, L.; Cole, T.; Degenhardt, F.; Engels, H. & Gillessen-Kaesbach, G. et al.​ (2013) 
    Journal of Medical Genetics, 50(12) pp. 838​-847​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101918 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​First PEX11 beta patient extends spectrum of peroxisomal biogenesis disorder phenotypes​
    Thoms, S.   & Gärtner, J. ​ (2012) 
    Journal of Medical Genetics, 49(5) pp. 314​-316​.​ DOI: https://doi.org/10.1136/jmedgenet-2012-100899 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article
    ​ ​Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations​
    Witsch-Baumgartner, M.; Schwentner, I.; Gruber, M.; Benlian, P.; Bertranpetit, J.; Bieth, E. & Chevy, F. et al.​ (2008) 
    Journal of Medical Genetics, 45(4) pp. 200​-209​.​ DOI: https://doi.org/10.1136/jmg.2007.053520 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Very mild cases of Rett syndrome with skewed X inactivation​
    Huppke, P. ; Maier, E. M.; Warnke, A.; Brendel, C.; Laccone, F.   & Gärtner, J. ​ (2006) 
    Journal of Medical Genetics, 43(10) pp. 814​-816​.​ DOI: https://doi.org/10.1136/jmg.2006.042077 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​
    Uzumcu, A.; Norgett, E. E.; Dindar, A.; Uyguner, O.; Nisli, K.; Kayserili, H. & Sahin, S. E. et al.​ (2006) 
    Journal of Medical Genetics, 43(2) art. e5​.​ DOI: https://doi.org/10.1136/jmg.2005.032904 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article
    ​ ​Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients​
    Archer, H. L.; Whatley, S. D.; Evans, J. C.; Ravine, D.; Huppke, P.; Kerr, A. & Bunyan, D. et al.​ (2006) 
    Journal of Medical Genetics, 43(5) pp. 451​-456​.​ DOI: https://doi.org/10.1136/jmg.2005.033464 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations​
    Rosewich, H. ; Ohlenbusch, A.   & Gärtner, J. ​ (2005) 
    Journal of Medical Genetics, 42(9) art. e58​.​ DOI: https://doi.org/10.1136/jmg.2005.033324 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​
    Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Y.; Uyguner, O. & Gultekin, S. et al.​ (2005) 
    Journal of Medical Genetics, 42(5) pp. 408​-415​.​ DOI: https://doi.org/10.1136/jmg.2004.026138 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis​
    Borthwick, K J; Kandemir, N.; Topaloglu, R.; Kornak, U. ; Bakkaloglu, A.; Yordam, N. & Ozen, S. et al.​ (2003) 
    Journal of Medical Genetics, 40(2) pp. 115​-121​.​ DOI: https://doi.org/10.1136/jmg.40.2.115 
    ​Details  DOI  PMID  PMC 
  • 2003 | Journal Article
    ​ ​Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy​
    Kohlhase, J.; Schubert, L.; Liebers, M.; Rauch, A.; Becker, K.; Mohammed, S. N. & Newbury-Ecob, R. et al.​ (2003) 
    Journal of Medical Genetics, 40(7) pp. 473​-478​.​ DOI: https://doi.org/10.1136/jmg.40.7.473 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Journal Article | Letter Note
    ​ ​Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome​
    Blanck, C.; Kohlhase, J.; Engels, P.; Burfeind, P.; Engel, W.; Bottani, A. & Patel, M. S. et al.​ (2000) 
    Journal of Medical Genetics, 37(4) pp. 303​-307​.​ DOI: https://doi.org/10.1136/jmg.37.4.303 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Journal Article | Letter Note
    ​ ​No evidence for imprinting in distal 18q​
    Maiwald, R.; Overhauser, J. & Laccone, F. A.​ (2000) 
    Journal of Medical Genetics, 37(2) pp. 152​-156​.​ DOI: https://doi.org/10.1136/jmg.37.2.152 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Journal Article | Letter Note
    ​ ​A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype​
    Engels, S.; Kohlhase, J. & McGaughran, J.​ (2000) 
    Journal of Medical Genetics, 37(6) pp. 458​-460​.​ DOI: https://doi.org/10.1136/jmg.37.6.458 
    ​Details  DOI  PMID  PMC  WoS 
  • 2000 | Journal Article | Letter Note
    ​ ​Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1​
    Knoblauch, H.; Thiel, G.; Tinschert, S.; Korner, H.; Tennstedt, C.; Chaoui, R. & Kohlhase, J. et al.​ (2000) 
    Journal of Medical Genetics, 37(5) pp. 389​-392​.​ DOI: https://doi.org/10.1136/jmg.37.5.389 
    ​Details  DOI  PMID  PMC  WoS 

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