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1.  Human Chromosome 7: DNA Sequence and Biology 
Scherer, Stephen W. | Cheung, Joseph | MacDonald, Jeffrey R. | Osborne, Lucy R. | Nakabayashi, Kazuhiko | Herbrick, Jo-Anne | Carson, Andrew R. | Parker-Katiraee, Layla | Skaug, Jennifer | Khaja, Razi | Zhang, Junjun | Hudek, Alexander K. | Li, Martin | Haddad, May | Duggan, Gavin E. | Fernandez, Bridget A. | Kanematsu, Emiko | Gentles, Simone | Christopoulos, Constantine C. | Choufani, Sanaa | Kwasnicka, Dorota | Zheng, Xiangqun H. | Lai, Zhongwu | Nusskern, Deborah | Zhang, Qing | Gu, Zhiping | Lu, Fu | Zeesman, Susan | Nowaczyk, Malgorzata J. | Teshima, Ikuko | Chitayat, David | Shuman, Cheryl | Weksberg, Rosanna | Zackai, Elaine H. | Grebe, Theresa A. | Cox, Sarah R. | Kirkpatrick, Susan J. | Rahman, Nazneen | Friedman, Jan M. | Heng, Henry H. Q. | Pelicci, Pier Giuseppe | Lo-Coco, Francesco | Belloni, Elena | Shaffer, Lisa G. | Pober, Barbara | Morton, Cynthia C. | Gusella, James F. | Bruns, Gail A. P. | Korf, Bruce R. | Quade, Bradley J. | Ligon, Azra H. | Ferguson, Heather | Higgins, Anne W. | Leach, Natalia T. | Herrick, Steven R. | Lemyre, Emmanuelle | Farra, Chantal G. | Kim, Hyung-Goo | Summers, Anne M. | Gripp, Karen W. | Roberts, Wendy | Szatmari, Peter | Winsor, Elizabeth J. T. | Grzeschik, Karl-Heinz | Teebi, Ahmed | Minassian, Berge A. | Kere, Juha | Armengol, Lluis | Pujana, Miguel Angel | Estivill, Xavier | Wilson, Michael D. | Koop, Ben F. | Tosi, Sabrina | Moore, Gudrun E. | Boright, Andrew P. | Zlotorynski, Eitan | Kerem, Batsheva | Kroisel, Peter M. | Petek, Erwin | Oscier, David G. | Mould, Sarah J. | Döhner, Hartmut | Döhner, Konstanze | Rommens, Johanna M. | Vincent, John B. | Venter, J. Craig | Li, Peter W. | Mural, Richard J. | Adams, Mark D. | Tsui, Lap-Chee
Science (New York, N.Y.)  2003;300(5620):767-772.
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
PMCID: PMC2882961  PMID: 12690205 CAMSID: cams403
2.  Metabolic Syndrome features and risk of neural tube defects 
Maternal obesity and pre-pregnancy diabetes mellitus, features of the metabolic syndrome (MetSyn), are individual risk factors for neural tube defects (NTD). Whether they, in combination with additional features of MetSyn, alter this risk is not known. We evaluated the risk of NTD in association with maternal features of the MetSyn.
We used a population-based case-control study design in the province of Ontario, Canada. Cases and controls were derived from women who underwent antenatal maternal screening (MSS) at 15 to 20 weeks' gestation. There were 89 maternal cases with, and 434 controls without, an NTD-affected singleton pregnancy. Maternal features of MetSyn were defined by the presence of pre-pregnancy diabetes mellitus, body weight ≥ 90th centile among controls, non-white ethnicity and/or serum highly sensitive C-reactive protein (hsCRP) ≥ 75th centile of controls. Since hsCRP naturally increases in pregnancy, analyses were performed with, and without, the inclusion of hsCRP in the model.
Mean hsCRP concentrations were exceptionally high among study cases and controls (6.1 and 6.4 mg/L, respectively). When hsCRP was excluded from the model, the adjusted odds ratios for NTD were 1.9 (95% confidence interval 1.1–3.4) in the presence 1 feature of MetSyn, and 6.1 (1.1–32.9) in the presence of 2 or more features. When hsCRP was included, the respective risk estimates were attenuated to 1.6 (0.88–2.8) and 3.1 (1.2–8.3).
We found about 2-fold and 6-fold higher risk for NTD in the presence 1, and 2 or more features, of the metabolic syndrome, respectively. It is not clear whether this risk is altered by the presence of a high serum hsCRP concentration.
PMCID: PMC2039731  PMID: 17880716
3.  Genetic Disorders in the Newborn Infant 
Canadian Family Physician  1988;34:909-913.
Genetic disorders in the neonate should be suspected in a number of different clinical situations, ranging from that of an infant with dysmorphic features and multiple congenital malformations to that of a previously well newborn who becomes acutely ill. An approach for the primary-care physician to the initial investigation and management of these situations is outlined. In addition neonatal screening tests for metabolic disorders and congenital hypothyroidism are briefly discussed.
PMCID: PMC2218983  PMID: 21253098
congenital malformations; metabolic diseases; neonatal screening

Results 1-3 (3)