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2005, ISBN 0973027029, 133
Book
by Redin, C and Brand, H and Collins, R.L and Kammin, T and Mitchell, E and Hodge, J.C and Hanscom, C and Pillalamarri, V and Seabra, C.M and Abbott, M.-A and Abdul-Rahman, Omar and Aberg, E and Adley, R and Alcaraz-Estrada, S.L and Alkuraya, Fowzan S and An, Y and Anderson, M.-A and Antolik, C and Anyane-Yeboa, K and Atkin, Joan and Bartell, T and Bernstein, J.A and Beyer, E and Blumenthal, I and Bongers, Ernie and Brilstra, E.H and Brown, C.W and Brüggenwirth, Hennie and Callewaert, L and Chiang, C and Corning, K and Cox, H and Cuppen, Edwin and Currall, B.B and Cushing, Tom and David, D and Deardorff, Matthew and Dheedene, Annelies and D'Hooghe, Marc and Vries, Boukje and Earl, D.L and Ferguson, H.L and Fisher, H and Fitzpatrick, David R and Gerrol, P and Giachino, D and Glessner, J.T and Gliem, T and Grady, M and Graham, B.H and Griffis, C and Gripp, Karen and Gropman, A.L and Hanson-Kahn, A and Harris, D.J and Hayden, M.A and Hill, R and Hochstenbach, R and Hoffman, J.D and Hopkin, R and Hubshman, M.W and Innes, M and Irons, M and Irving, M and Jacobsen, J.C and Janssens, Sana and Jewett, T and Johnson, J.P and Jongmans, Marjolijn and Kahler, Stephen G and Koolen, David and Korzelius, J and Kroisel, Peter and Lacassie, Y and Lawless, W and Lemyre, E and Leppig, Kathy and Levin, A.V and Li, H and Liao, E.C and Lim, C and Lose, E.J and Lucente, D and MacEra, M.J and Manavalan, P and Manile, G and Marcelis, Carlo and Margolin, L and Mason, T and Masser-Frye, Diane and McClellan, M.W and Zepeda Mendoza, C.J and Menten, B and Middelkamp, S and Mikami, L.R and Moe, E and Mohammed, Shabaz and Mononen, T and Mortenson, M.E and Moya, G and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
by Bolton, K.L and Tyrer, J.P and Song, H and Ramus, S.J and Notaridou, M and Jones, C and Sher, T and Gentry-Maharaj, A and Wozniak, E and Tsai, Y.Y and Weidhaas, J and Paik, D and Berg, D. Van den and Stram, D.O and Pearce, C.L and Wu, A.H and Brewster, W and Anton-Culver, H and Ziogas, A and Narod, S and Levine, D.A and Kaye, S.B and Brown, R and Paul, J and Flanagan, J and Sieh, W and McGuire, V and Whittemore, A.S and Campbell, I and Gore, M.E and Lissowska, J and Yang, H.P and Meek, K and Gronwald, J and Lubinski, J and Jakubowska, A and Le, N.D and Cook, L.S and Keleman, L.E and Brook-Wilson, A and Massuger, L.F.A.G and Kiemeney, L.A.L.M and Aben, K.K.H and Altena, A.M. van and Houlston, R.S and Tomlinson, I and Palmieri, R.T and Moorman, P.G and Schildkraut, J and Iversen, E.S and Phelan, C.M and Vierkant, R.A and Cunningham, J.M and Goode, E.L and Fridley, B.L and Kruger-Kjaer, S and Blaeker, J and Hogdall, E and Hogdall, C and Gross, J and Karlan, B.Y and Ness, R.B and Edwards, R.P and Odunsi, K and Moyisch, K.B and Baker, J.A and Modugno, F and Heikkinenen, T and Butzow, R and Nevanlinna, H and Leminen, A and Bogdanova, N and Antonenkova, N and Doerk, T and Hillemanns, P and Durst, M and Runnebaum, I and Thompson, P.J and Carney, M.E and Goodman, M.T and Lurie, G and Wang-Gohrke, S and Hein, R and Chang-Claude, J and Rossing, M.A and Cushing-Haugen, K.L and Doherty, J and Chen, C and Rafnar, T and Besenbacher, S and Sulem, P and Stefansson, K and Birrer, M.J and Australian Ovarian Canc Study Grp and Ovarian Canc Assoc Consortium and Australian Canc Study Ovarian Canc and Australian Ovarian Cancer Study Group and Ovarian Cancer Association Consortium and Australian Cancer Study (Ovarian Cancer) and on behalf of the Ovarian Cancer Association Consortium and the Australian Ovarian Cancer Study Group and the Australian Cancer Study (Ovarian Cancer)
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 880 - 884
Journal Article
2008, ISBN 9780815783152, vi, 274
Book
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2972 - 2980
textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In... 
Histone methyl transferases | Weaver syndrome | EZH2 | histone methyl transferases | METHYLATION | LYSINE-27 | ANOMALIES | B-CELL LYMPHOMAS | NEUROBLASTOMA | AUTOSOMAL-DOMINANT INHERITANCE | OVERGROWTH | GENETICS & HEREDITY | CERVICAL-SPINE | GIRL | Developmental Disabilities | Polycomb Repressive Complex 2 - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Male | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Chromosome Deletion | Hand Deformities, Congenital - complications | Sotos Syndrome - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Enhancer of Zeste Homolog 2 Protein | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Mutation | Growth Disorders - genetics | Congenital Hypothyroidism - complications | Growth Disorders - complications | Growth Disorders - physiopathology | Hernia | Histones | Genetic aspects | Phenotypes | Camptodactyly | Missense mutation | Intellectual disabilities | Histone methyltransferase | Data processing | Skin
Journal Article
by Ikeno, Fumiaki and Brooks, Maria Mori and Nakagawa, Kaori and Kim, Min-Kyu and Kaneda, Hideaki and Mitsutake, Yoshiaki and Vlachos, Helen A and Schwartz, Leonard and Frye, Robert L and Kelsey, Sheryl F and Waseda, Katsuhisa and Hlatky, Mark A and Detre, Katherine M and Kelsey, Sheryl F and Brooks, Maria Mori and Orchard, Trevor J and Thomas, Stephen B and Tyrrell, Kim Sutton and Rana, Jamal S and Averbach, Frani and MacGregor, Joan M and O'Neal, Scott M and Pitluga, Kathleen and Sansing, Veronica and Tranchine, Mary and Crow, Sharon W and Bertolet, Marianne (Marnie) and Hardison, Regina and Kip, Kevin and Lombardero, Manuel and Lu, Jiang and Janiszewski, Sue and Protivnak, Darina and Reiser, Sarah and Barton, Stephen and Guo, Ping and Kushner, Yulia and Michael, Owen and Martin, Jeffrey P and Kania, Christopher and Kania, Michael and O'Donnell, Jeffrey and Maxwell, Rae Ann and Frye, Robert L and Goldberg, Suzanne and Rosenberg, Yves and Desvigne-Nickens, Patrice and Ershow, Abby and Gordon, David and Paltoo, Dina and Jones, Teresa L.Z and Hueb, Whady and Ramires, José and Lopes, Neuza and Wajchenberg, Bernardo Léo and Martinez, Eulogio E and Oliveira, Sergio A and Ribeiro, Expedito E and Perin, Marcos and Betti, Roberto and Schwartz, Leonard and Steiner, George and Barolet, Alan and Groenewoud, Yolanda and Mighton, Lisa and Camelon, Kathy and O'Rourke, Robert and Blodgett, Janet and Sako, Edward and Nicastro, Judith and Prescott, Robin and Rihal, Charanjit and Kennedy, Frank and Barsness, Gregory and Basu, Amanda and Clavell, Alfredo and Frye, Robert and Holmes, David R and Lerman, Amir and Mullaney, Charles and Reeder, Guy and Rizza, Robert and Schaff, Hartzell and Smith, Steven and Somers, Virend and Sundt, Thoralf and Ting, Henry and Wright, R. Scott and Helgemoe, Pam and Lesmeister, Diane and Rolbiecki, Deborah and Lepe-Montoya, Luis and Escobedo, Jorge and Barraza, Rafael and Baleón, Rubén and Campos, Arturo and García, Paula and Lezama, Carlos and Miramontes, Carlos and Ocampo, Salvador and ... and BARI-2D Study Grp and BARI-2D Study Group
Journal of the American College of Cardiology, ISSN 0735-1097, 01/2017, Volume 69, Issue 4, pp. 395 - 403
Journal Article
Clinical Case Reports, ISSN 2050-0904, 05/2019, Volume 7, Issue 5, pp. 898 - 902
Key Clinical Message Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this... 
congenital heart disease | recombinant chromosome 8 | neural tube defect | double outlet right ventricle | myelomeningocele | Genotype & phenotype | Ultrasonic imaging | Congenital diseases | Motor ability | Fingers & toes | Cardiovascular disease | Chromosomes | Defects | Cell adhesion & migration
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 210 - 220
Journal Article