Online First

An exciting innovation allowing the advanced publication of selected articles within days of acceptance.

Online First articles are available as unedited manuscripts* in downloadable PDF form
They are peer reviewed, accepted for publication and indexed by PubMed but not yet included in a journal issue.

* edited, typeset versions may be added as they become available

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To see an article (subscription required for full text), click its [Accepted Manuscript] 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.

26 June 2008

Peter Henneman, Yurii S Aulchenko, Rune R Frants, Ko Willems van Dijk, Ben A Oostra, and Cornelia M van Duijn: Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: The Erasmus Rucphen Family (ERF) study
J Med Genet Published Online First: 26 June 2008. doi:10.1136/jmg.2008.058388 [Abstract] [Accepted Manuscript]

25 June 2008

Kenneth H. Kraemer, Salma Faghri, Deborah Tamura, and John J. DiGiovanna: Trichothiodystrophy: A systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations
J Med Genet Published Online First: 25 June 2008. doi:10.1136/jmg.2008.058743 [Abstract] [Accepted Manuscript]

Judith Balmaña, Francesc Balaguer, Sergi Castellví-Bel, Ewout W Steyerberg, Montserrat Andreu, Xavier Llor, Rodrigo Jover, Antoni Castells, and Sapna Syngal: Comparison of predictive models, clinical criteria and molecular tumor screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
J Med Genet Published Online First: 25 June 2008. doi:10.1136/jmg.2008.059311 [Abstract] [Accepted Manuscript]

11 June 2008

Femke D Hannes, Andrew J Sharp, Heather C Mefford, Thomy de Ravel, Claudia A Ruivenkamp, Martijn H Breuning, Jean-Pierre Fryns, Koen Devriendt, Griet Van Buggenhout, Annick Vogels, Helen H Stewart, Raoul C Hennekam, Gregory M Cooper, Regina Regan, Samantha JL Knight, Evan E Eichler, and Joris R Vermeesch: Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
J Med Genet Published Online First: 11 June 2008. doi:10.1136/jmg.2007.055202 [Abstract] [Accepted Manuscript]

Ellen Denayer, Thomy de Ravel, and Eric Legius: Clinical and Molecular Aspects of RAS-related disorders
J Med Genet Published Online First: 11 June 2008. doi:10.1136/jmg.2007.055772 [Abstract] [Accepted Manuscript]

Gustavo Alencastro, Diane E. McCloskey, Susana E. Kliemann, Carlos M. Maranduba, Anthony E. Pegg, Xiaojing Wang, Débora R. Bertola, Charles E. Schwartz, Maria Rita Passos-Bueno, and Andréa L. Sertié: New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson XLMR syndrome
J Med Genet Published Online First: 11 June 2008. doi:10.1136/jmg.2007.056713 [Abstract] [Accepted Manuscript]

6 June 2008

Diether Lambrechts, Koen Poesen, Rubén Fernández-Santiago, Ammar Al-Chalabi, Roberto Del Bo, Paul WJ Van Vaught, Saeed Khan, Stefan Marklund, Alice Brockington, Ingrid Van Marion, Johanna Anneser, Christopher Shaw, Albert Ludolph, Nigel Leigh, giacomo comi, Thomas Gasser, Pamela J Shaw, Karen Morrison, Peter Andersen, Leonard H Van den Berg, Vincent Thijs, Teepu Siddique, Wim Robberecht, and Peter Carmeliet: Meta-analysis of VEGF variations in ALS: increased susceptibility in male carriers of the -2578AA genotype
J Med Genet Published Online First: 6 June 2008. doi:10.1136/jmg.2008.058222 [Abstract] [Accepted Manuscript]

4 June 2008

Claudia Piccoli, Maria Ripoli, Giovanni Quarato, Rosella Scrima, Annamaria D'Aprile, Domenico Boffoli, Maurizio Margaglione, Chiara Criscuolo, Giuseppe De Michele, Annamaria Sardanelli, Sergio Papa, and Nazzareno Capitanio: Coexistence of Mutations in PINK1 and Mitochondrial DNA in Early Onset Parkinsonism
J Med Genet Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058628 [Abstract] [Accepted Manuscript]

Jamie E Mangold, Thomas J Payne, Jennie Z Ma, Guobo Chen, and Ming D Li: Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans
J Med Genet Published Online First: 4 June 2008. doi:10.1136/jmg.2008.057844 [Abstract] [Accepted Manuscript]

Dieter Kotzot: Complex and Segmental Uniparental Disomy (UPD) Updated
J Med Genet Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058016 [Abstract] [Accepted Manuscript]

29 May 2008

Hildegard Kehrer-Sawatzki and David N Cooper: Mosaicism in Sporadic Neurofibromatosis Type 1: Variations on a Theme Common to Other Hereditary Cancer Syndromes?
J Med Genet Published Online First: 29 May 2008. doi:10.1136/jmg.2008.059329 [Abstract] [Accepted Manuscript]

Gaëlle Bougeard, Richard Sesboüé, Stéphanie Baert-Desurmont, Stéphanie Vasseur, Cosette Martin, Julie Tinat, Laurence Brugières, Agnès Chompret, Brigitte Bressac-de Paillerets, Dominique Stoppa-Lyonnet, Catherine Bonaïti-Pellié, Thierry Frebourg, and The French LFS working group: Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
J Med Genet Published Online First: 29 May 2008. doi:10.1136/jmg.2008.057570 [Abstract] [Accepted Manuscript]

Peter Felderbauer, Jürgen Schnekenburger, Rainer Lebert, Kerem Bulut, Marina Parry, Tobias Meister, Verena Schick, Frank Schmitz, Wolfram Domschke Prof. Dr., and Wolfgang E Schmidt: A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: Functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site
J Med Genet Published Online First: 29 May 2008. doi:10.1136/jmg.2007.056481 [Abstract] [Accepted Manuscript]

2 May 2008

Dita Obler, Amy Juraszek, Leslie B. Smoot, and Marvin R. Natowicz: Double Outlet Right Ventricle: Aetiologies and Associations
J Med Genet Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057984 [Abstract] [Accepted Manuscript]

Frederic Chibon, Charlotte Primois, Jean-Marc Bressieux, Didier Lacombe, Catherine Lok, Louis Mauriac, Alain Taieb, and Michel Longy: Contribution of PTEN large rearrangements in Cowden disease: a MAPH screening approach
J Med Genet Published Online First: 2 May 2008. doi:10.1136/jmg.2008.058131 [Abstract] [Accepted Manuscript]

Rudy van Eijsden, Lars Eijssen, Patrick Lindsey, Caroline van den Burg, Elly de Wit, Estella Rubio-Gozalbo, Christine de Die, Torik Ayoubi, Willem Sluiter, Irene de Coo, and Hubert Smeets: Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation
J Med Genet Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057497 [Abstract] [Accepted Manuscript]

Anna-Maja Nyström, Sara Ekvall, Erna Berglund, Maria Björkqvist, Gunnar Braathen, Karel Duchen, Henrik Enell, Eva Holmberg, Ulrika Holmlund, Mia Olsson-Engman, Göran Annerén, and Marie-Louise Bondeson: Noonan and Cardio-facio-cutaneous syndromes: Two Clinically and Genetically Overlapping Disorders
J Med Genet Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057653 [Abstract] [Accepted Manuscript]

16 April 2008

Miao Sun, Fen Ma, Xuan Zeng, Qing Liu, Xiu-Li Zhao, Feng-Xia Wu, Guo-Ping Wu, Zi-Feng Zhang, Bin Gu, Yang-Fan Zhao, Shao-Hua Tian, Bin Lin, Xiang-Yin Kong, Xiao-Lin Zhang, Wei Yang, Wilson Lo, and Xue Zhang: Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long-range, limb-specific SHH enhancer
J Med Genet Published Online First: 16 April 2008. doi:10.1136/jmg.2008.057646 [Abstract] [Accepted Manuscript]

15 April 2008

Lindsey Kent, Jane Emerton, Vishu Bhadravathi, Emma Weisblatt, Greg Pasco, Lionel R Willatt, Robert McMahon, and John R.W. Yates: X linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
J Med Genet Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057729 [Abstract] [Accepted Manuscript]

Paul J. Hagerman: The Fragile X Prevalence Paradox
J Med Genet Published Online First: 15 April 2008. doi:10.1136/jmg.2008.059055 [Abstract] [Accepted Manuscript]

Gareth R Evans, Katja N Gaarenstroom, Diane stirling, Andrew Shenton, lovise Maehle, Ann Dørum, Michael Steel, Fiona Lalloo, Jaran Apold, Mary Porteous, Hans F.A. Vasen, Christi van Asperen, and Pal Moller: Screening for Familial Ovarian Cancer: Poor survival of BRCA1/2 related cancers
J Med Genet Published Online First: 15 April 2008. doi:10.1136/jmg.2008.058248 [Abstract] [Accepted Manuscript]

18 March 2008

Jasmin Roohi, Cristina Montagna, David H Tegay, Lance E Palmer, Carla DeVincent, John C Pomeroy, Susan L Christian, Norma Nowak, and Eli Hatchwell: Disruption of Contactin 4 in 3 Subjects with Autism Spectrum Disorder
J Med Genet Published Online First: 18 March 2008. doi:10.1136/jmg.2008.057505 [Abstract] [Accepted Manuscript]

29 February 2008

Jackie Bryant, Keith Cooper, Jo Picot, Andrew Clegg, Paul Roderick, William Rosenberg, and Christine Patch: A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis in at-risk populations
J Med Genet Published Online First: 29 February 2008. doi:10.1136/jmg.2007.055806 [Abstract] [Accepted Manuscript]

19 February 2008

Sara Bruce, Fredrik Nyberg, Erik Melén, Anna James, Ville Pulkkinen, Christina Orsmark-Pietras, Anna Bergström, Barbro Dahlén, Magnus Wickman, Erika von Mutius, Gert Doekes, Roger Lauener, Josef Riedler, Waltraud Eder, Marianne van Hage, Göran Pershagen, Annika Scheynius, and Juha Kere: The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms
J Med Genet Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055137 [Abstract] [Accepted Manuscript]

5 April 2007

Dian Donnai: Robert J Gorlin DDS, MS (1923-2006): A Geneticist for all Countries
J Med Genet Published Online First: 5 April 2007. doi:10.1136/jmg.2007.050716 [Abstract] [Accepted Manuscript]

Charis Eng: In memorium: Robert J. Gorlin, DDS, MS (1923-2006): A Geneticist for All Seasons
J Med Genet Published Online First: 5 April 2007. doi:10.1136/jmg.2006.048397 [Abstract] [Accepted Manuscript]

26 June 2006

Steve E. Humphries, Roslyn A. Whittall, Christina S. Hubbart, Sarah Maplebeck, Jacqueline A. Cooper, Anne Soutar, Rossi Naoumova, Gilbert R. Thompson, Mary Seed, Paul N. Durrington, J. Paul Miller, D. John B. Betteridge, and H. A. W. Neil: Genetic causes of Familial Hypercholesterolaemia in UK patients: relation to plasma lipid levels and coronary heart disease risk
J Med Genet Published Online First: 26 June 2006. doi:10.1136/jmg.2005.038356 [Abstract] [Accepted Manuscript]

To see an article, click its [Accepted Manuscript] 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.