The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders von Bourque, DK, Peñaherrera, MS, Yuen, RKC, Van Allen, MI, McFadden, DE, Robinson, WP

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Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome von Pugash, D., Oh, T., Godwin, K., Robinson, A. J., Byrne, A., Van Allen, M. I., Osiovich, H.

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro von Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos-Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.

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P.109 Diagnostic Yield of Targeted Exome Sequencing in West Syndrome von Parfyonov, M, Guella, I, Evans, DM, Adam, S, DeGuzman, C, Van Allen, MI, Boelman, C, Nelson, TN, Farrer, MJ, Connolly, MB, Demos, M

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Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases von Bernard, L.E., Peñaherrera, M.S., Van Allen, M.I., Wang, M.S., Yong, S-L., Gareis, F., Langlois, S., Robinson, W.P.

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Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural south african blacks with a history of pregnancy complicated by neural tube defec... von Ubbink, Johan B., Christianson, Arnold, Bester, Megan J., Van Allen, Margot I., Venter, Philip A., Delport, Rhena, Blom, Henk J., Merwe, Annatjie van der, Potgieter, Hendrik, Vermaak, W.J. Hayward

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KCNQ2 mutations: genotype-phenotype association beyond epilepsy von Buerki, SE, Horwath, GA, Van Allen, MI, Datta, A, Boelman, C, Abu Sharar, Z, Sayson, B, Connolly, MB, van Karnebeek, CD, Demos, MK

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly von Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

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Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada von De Wals, Philippe, Tairou, Fassiatou, Van Allen, Margot I, Uh, Soo-Hong, Lowry, R. Brian, Sibbald, Barbara, Evans, Jane A, Van den Hof, Michiel C, Zimmer, Pamela, Crowley, Marian, Fernandez, Bridget, Lee, Nora S, Niyonsenga, Theophile

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Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia von Jacquinet, Adeline, Brown, Lindsay, Sawkins, Jessica, Liu, Pengfei, Pugash, Denise, Van Allen, Margot I., Patel, Millan S.

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Limb body wall complex: I. Pathogenesis von Van Allen, M. I., Curry, C., Gallagher, L., Reynolds, James F.

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Clinical variability within Brachmann-de Lange syndrome: A proposed classification system von van Allen, Margot I., Filippi, Giorgio, Siegel-Bartelt, Jacqueline, Yong, Siu-Li, McGillivray, Barbara, Zuker, Ron M., Smith, Charles R., Magee, J. F., Ritchie, Susan, Toi, Ants, Reynolds, James F.

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482 PRENATAL HEPATOSPLENOMEGALY WITH TRANSIENT MYELOPROLIFERATIVE DISORDER OF TRISOMY 21 von Steinraths, M., Pugash, D., Lim, K., Van Allen, M. I.

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Trisomy 18 and a constitutional maternal translocation (2;18) von Teshima, Ikuko E., Winsor, Elizabeth J. T., Van Allen, Margot I.

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Fatal combined defects in mitochondrial multienzyme complexes in two siblings von ROBINSON, B. H, CHOW, W, PETROVA-BENEDICT, R, CLARKE, J. T. R, VAN ALLEN, M. I, BECKER, L. E, BOULTON, J. E, RAGAN, I

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Trisomy 4 in a fetus with cyclopia and other anomalies von Van Allen, Margot I., Ritchie, Susan, Toi, Ants, Fong, Katherine, Winsor, Elizabeth

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Occurrence Of Chickenpox During Pregnancy In Women Seropositive For Varicella-Zoster Virus von Martin, Kimberly A., Junker, Anne K., Thomas, Eva E., Van Allen, Margo I., Friedman, J. M.

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Evidence for multi-site closure of the neural tube in humans von Van Allen, Margot I., Kalousek, Dagmar K., Chernoff, Gerold F., Juriloff, Diana, Harris, Muriel, McGillivray, Barbara C., Yong, Siu-Li, Langlois, Sylvie, Macleod, Patrick M., Chitayat, David, Friedman, Jan M., Wilson, R. Doug, McFadden, Deborah, Pantzar, J., Ritchie, Susan, Hall, Judith G.

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Limb-body wall complex: II. Limb and spine defects von Van Allen, M. I., Curry, C., Walden, C. E., Gallagher, L., Patten, R. M., Opitz, John M., Reynolds, James F.

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Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review von McFadden, D E, Pantzar, J T, Van Allen, M I, Langlois, S

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