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Previous Next 		Contents: Volume 17, Number 13, 1 July 2008   [Index by Author] 

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

ARTICLES Back

Marina Grandis, Tiziana Vigo, Mario Passalacqua, Manisha Jain, Sara Scazzola, Veronica La Padula, Michelle Brucal, Federica Benvenuto, Lucilla Nobbio, Angela Cadoni, Gian Luigi Mancardi, John Kamholz, Michael E. Shy, and Angelo Schenone
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
Human Molecular Genetics Advance Access published on March 12, 2008
Hum. Mol. Genet. 2008 17: 1877-1889; doi:10.1093/hmg/ddn083 [Abstract] [Full Text] [PDF] [Request Permissions]  

Julia H. White, Mathias Chiano, Mark Wigglesworth, Robert Geske, John Riley, Nicola White, Simon Hall, Guohua Zhu, Frank Maurio, Tony Savage, Wayne Anderson, Joanna Cordy, Melissa Ducceschi, GAIN investigators, Jorgen Vestbo, and Sreekumar G. Pillai
Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation
Human Molecular Genetics Advance Access published on March 15, 2008
Hum. Mol. Genet. 2008 17: 1890-1903; doi:10.1093/hmg/ddn087 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Dianna C. Martin, Vasantha Atmuri, Richard J. Hemming, Judith Farley, John S. Mort, Sharon Byers, Sabine Hombach-Klonisch, Robert Stern, and Barbara L. Triggs-Raine
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis
Human Molecular Genetics Advance Access published on March 15, 2008
Hum. Mol. Genet. 2008 17: 1904-1915; doi:10.1093/hmg/ddn088 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Michael Benzinou, Jean-Claude Chèvre, Kirsten J. Ward, Cécile Lecoeur, Christian Dina, Stephane Lobbens, Emmanuelle Durand, Jérome Delplanque, Fritz F. Horber, Barbara Heude, Beverley Balkau, Knut Borch-Johnsen, Torben Jørgensen, Torben Hansen, Oluf Pedersen, David Meyre, and Philippe Froguel
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations
Human Molecular Genetics Advance Access published on March 28, 2008
Hum. Mol. Genet. 2008 17: 1916-1921; doi:10.1093/hmg/ddn089 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Alwin Derijck, Godfried van der Heijden, Maud Giele, Marielle Philippens, and Peter de Boer
DNA double-strand break repair in parental chromatin of mouse zygotes, the first cell cycle as an origin of de novo mutation
Human Molecular Genetics Advance Access published on March 18, 2008
Hum. Mol. Genet. 2008 17: 1922-1937; doi:10.1093/hmg/ddn090 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Francesca Capon, Marie-José Bijlmakers, Natalie Wolf, Maria Quaranta, Ulrike Huffmeier, Michael Allen, Kirsten Timms, Victor Abkevich, Alexander Gutin, Rhodri Smith, Richard B. Warren, Helen S. Young, Jane Worthington, A. David Burden, Christopher E.M. Griffiths, Adrian Hayday, Frank O. Nestle, Andre Reis, Jerry Lanchbury, Jonathan N. Barker, and Richard C. Trembath
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
Human Molecular Genetics Advance Access published on March 25, 2008
Hum. Mol. Genet. 2008 17: 1938-1945; doi:10.1093/hmg/ddn091 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Erica S. Chevalier-Larsen, Karen E. Wallace, Cynthia R. Pennise, and Erika L.F. Holzbaur
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin
Human Molecular Genetics Advance Access published on March 25, 2008
Hum. Mol. Genet. 2008 17: 1946-1955; doi:10.1093/hmg/ddn092 [Abstract] [Full Text] [PDF] [Request Permissions]  

Marwan K. Tayeh, Hsan-Jan Yen, John S. Beck, Charles C. Searby, Trudi A. Westfall, Hilary Griesbach, Val C. Sheffield, and Diane C. Slusarski
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
Human Molecular Genetics Advance Access published on April 1, 2008
Hum. Mol. Genet. 2008 17: 1956-1967; doi:10.1093/hmg/ddn093 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Tuula Rinne, Suzanne E. Clements, Evert Lamme, Pascal H.G. Duijf, Emine Bolat, Rowdy Meijer, Hans Scheffer, Elisabeth Rosser, Tiong Yang Tan, John A. McGrath, Joost Schalkwijk, Han G. Brunner, Huiqing Zhou, and Hans van Bokhoven
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
Human Molecular Genetics Advance Access published on March 25, 2008
Hum. Mol. Genet. 2008 17: 1968-1977; doi:10.1093/hmg/ddn094 [Abstract] [Full Text] [PDF] [Request Permissions]  

Eva Maria Kohler, Adrian Derungs, Gabriele Daum, Jürgen Behrens, and Jean Schneikert
Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours
Human Molecular Genetics Advance Access published on April 2, 2008
Hum. Mol. Genet. 2008 17: 1978-1987; doi:10.1093/hmg/ddn095 [Abstract] [Full Text] [PDF] [Request Permissions]  

Javier Simón-Sánchez and Andrew B. Singleton
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
Human Molecular Genetics Advance Access published on March 25, 2008
Hum. Mol. Genet. 2008 17: 1988-1993; doi:10.1093/hmg/ddn096 [Abstract] [Full Text] [PDF] [Request Permissions]  

Noriyuki Akahoshi, Chiho Kobayashi, Yasuki Ishizaki, Takashi Izumi, Toshiyuki Himi, Makoto Suematsu, and Isao Ishii
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine β-synthase-deficient mice, an animal model for hyperhomocysteinemia
Human Molecular Genetics Advance Access published on March 25, 2008
Hum. Mol. Genet. 2008 17: 1994-2005; doi:10.1093/hmg/ddn097 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Louis S. Pymar, Fiona M. Platt, Jon M. Askham, Ewan E. Morrison, and Margaret A. Knowles
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms
Human Molecular Genetics Advance Access published on April 7, 2008
Hum. Mol. Genet. 2008 17: 2006-2017; doi:10.1093/hmg/ddn098 [Abstract] [FREE Full Text] [PDF] [Supplementary Data]   OPEN ACCESS ARTICLE  

Simone Martinelli, Paola Torreri, Michele Tinti, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Alessandro Grottesi, Marina Ceccarini, Antonio Palleschi, Gianni Cesareni, Luisa Castagnoli, Tamara C. Petrucci, Bruce D. Gelb, and Marco Tartaglia
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
Human Molecular Genetics Advance Access published on March 27, 2008
Hum. Mol. Genet. 2008 17: 2018-2029; doi:10.1093/hmg/ddn099 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Diane Beysen, Lara Moumné, Reiner Veitia, Hartmut Peters, Bart P. Leroy, Anne De Paepe, and Elfride De Baere
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
Human Molecular Genetics Advance Access published on March 27, 2008
Hum. Mol. Genet. 2008 17: 2030-2038; doi:10.1093/hmg/ddn100 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Kathy Klos, Lawrence Shimmin, Christie Ballantyne, Eric Boerwinkle, Andrew Clark, Josef Coresh, Craig Hanis, Kiang Liu, Scott Sayre, and James Hixson
APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels
Human Molecular Genetics Advance Access published on March 31, 2008
Hum. Mol. Genet. 2008 17: 2039-2046; doi:10.1093/hmg/ddn101 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Andrea M. Allan, Xiaomin Liang, Yuping Luo, ChangHui Pak, Xuekun Li, Keith E. Szulwach, Dahua Chen, Peng Jin, and Xinyu Zhao
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits
Human Molecular Genetics Advance Access published on April 1, 2008
Hum. Mol. Genet. 2008 17: 2047-2057; doi:10.1093/hmg/ddn102 [Abstract] [Full Text] [PDF] [Request Permissions]  

Floris Bosveld, Anil Rana, Petra E. van der Wouden, Willy Lemstra, Martha Ritsema, Harm H. Kampinga, and Ody C. M. Sibon
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system
Human Molecular Genetics Advance Access published on April 10, 2008
Hum. Mol. Genet. 2008 17: 2058-2069; doi:10.1093/hmg/ddn105 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

CORRIGENDUM Back

David Modiano, Germana Bancone, Bianca Maria Ciminelli, Fiorenza Pompei, Isa Blot, Jacques Simporé, and Guido Modiano
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria
Human Molecular Genetics Advance Access published on April 27, 2008
Hum. Mol. Genet. 2008 17: 2070; doi:10.1093/hmg/ddn111 [Extract] [Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.