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Genetics
Citations 1-10 of 1888 total displayed.
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Most recent content
(1 Feb 2007):
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- Letters to JMG
An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
- Lisa Edelmann, Aaron Prosnitz, Sherly Pardo, Jahnavi Bhatt, Ninette Cohen, Tara Lauriat, Leonid Ouchanov, Patricia J González, Elina R Manghi, Pamela Bondy, Marcela Esquivel, Silvia Monge, Marietha F Delgado, Alessandra Splendore, Uta Francke, Barbara K Burton, and L Alison McInnes
J Med Genet 2007 44: 136 -143; published online before print as 10.1136/jmg.2006.044537
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Past content
(since Jan 1999):
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- Original articles
Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds
- J M Andresen, J Gayán, S S Cherny, D Brocklebank, G Alkorta-Aranburu, E A Addis, The US-Venezuela Collaborative Research Group, L R Cardon, D E Housman, and N S Wexler
J Med Genet 2007 44: 44 -50; published online before print as 10.1136/jmg.2006.045153
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- Electronic letters
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23
- E Pras, O Mahler, V Kumar, M Frydman, N Gefen, E Pras, and J F Hejtmancik
J Med Genet 2006; 43: e50.
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- Electronic letters
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
- C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, the KORA group, and H A Kretzschmar
J Med Genet 2006; 43: e53.
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- Reviews
The molecular genetics of Marfan syndrome and related disorders
- P N Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, A De Paepe, H C Dietz, G Guo, P A Handford, D P Judge, C M Kielty, B Loeys, D M Milewicz, A Ney, F Ramirez, D P Reinhardt, K Tiedemann, P Whiteman, and M Godfrey
J Med Genet 2006 43: 769 -787; published online before print as 10.1136/jmg.2005.039669
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- Original articles
SMAD4 mutations found in unselected HHT patients
- C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, and D A Marchuk
J Med Genet 2006 43: 793 -797; published online before print as 10.1136/jmg.2006.041517
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- Short reports
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
- M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, and V-F Mautner
J Med Genet 2006 43: 810 -813; published online before print as 10.1136/jmg.2006.041095
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- Short reports
Very mild cases of Rett syndrome with skewed X inactivation
- P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, and J Gärtner
J Med Genet 2006 43: 814 -816; published online before print as 10.1136/jmg.2006.042077
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- Letters to JMG
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
- M C Bonaglia, R Giorda, E Mani, G Aceti, B-M Anderlid, A Baroncini, T Pramparo, and O Zuffardi
J Med Genet 2006 43: 822 -828; published online before print as 10.1136/jmg.2005.038604
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- Letters to JMG
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
- R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, and J M van Hagen
J Med Genet 2006 43: 829 -832; published online before print as 10.1136/jmg.2005.040329
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