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There are 11683 results for: content related to: A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

  1. Mutation analysis of B3GALTL in Peters Plus syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2603–2610, Linda M. Reis, Rebecca C. Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner and Elena V. Semina

    Article first published online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32498

  2. Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

    Prenatal Diagnosis

    Volume 33, Issue 1, January 2013, Pages: 75–80, Katharina Schoner, Juergen Kohlhase, Annette M. Müller, Thomas Schramm, Margit Plassmann, Ralf Schmitz, Juergen Neesen, Peter Wieacker and Helga Rehder

    Article first published online : 13 NOV 2012, DOI: 10.1002/pd.4012

  3. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

  4. Novel B3GALTL mutation in Peters-plus Syndrome

    Clinical Genetics

    Volume 76, Issue 5, November 2009, Pages: 490–492, J Dassie-Ajdid, A Causse, A Poidvin, M Granier, J Kaplan, L Burglen, D Doummar, P Teisseire, A Vigouroux, F Malecaze, P Calvas and N Chassaing

    Article first published online : 1 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01253.x

  5. Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 251–256, Lihadh Al-Gazali, Bedir Shather, Waleed Kaplan, Kais Algawi and Bassam R. Ali

    Article first published online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32626

  6. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1277–1283, Deborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, Maria Kibaek, Maria Kirchhoff, Beatrice Oneda, Olaug Rødningen, Thomas Schmitt-Mechelke, Anita Rauch and Susanne Kjaergaard

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36439

  7. Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome

    Congenital Anomalies

    Volume 50, Issue 3, September 2010, Pages: 197–199, Reiko Shimizu, Ryota Saito, Kenji Hoshino, Kiyoshi Ogawa, Takashi Negishi, Jiro Nishimura, Norimasa Mitsui, Makiko Osawa and Hirofumi Ohashi

    Article first published online : 23 AUG 2010, DOI: 10.1111/j.1741-4520.2010.00282.x

  8. Heinrich Obersteiner and his contributions

    Clinical Anatomy

    Volume 28, Issue 1, January 2015, Pages: 5–11, Alper Cesmebasi, Alana John, Denzil Etienne, R. Shane Tubbs and Marios Loukas

    Article first published online : 18 APR 2014, DOI: 10.1002/ca.22401

  9. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 258–264, M Al-Owain, J Al-Zahrani, A Al-Bakheet, N Abudheim, B Al-Younes, H Aldhalaan, H Al-Zaidan, D Colak, F Almohaileb, ME Abouzied, F Al-Fadhli, B Meyer and N Kaya

    Article first published online : 21 DEC 2012, DOI: 10.1111/cge.12066

  10. You have full text access to this Open Access content
    B3GNT3 expression suppresses cell migration and invasion and predicts favorable outcomes in neuroblastoma

    Cancer Science

    Volume 104, Issue 12, December 2013, Pages: 1600–1608, Wan-Ling Ho, Mei-Ieng Che, Chih-Hsing Chou, Hsiu-Hao Chang, Yung-Ming Jeng, Wen-Ming Hsu, Kai-Hsin Lin and Min-Chuan Huang

    Article first published online : 28 OCT 2013, DOI: 10.1111/cas.12294

  11. You have free access to this content
    A novel β1,3-N-acetylglucosaminyltransferase (β3Gn-T8), which synthesizes poly-N-acetyllactosamine, is dramatically upregulated in colon cancer

    FEBS Letters

    Volume 579, Issue 1, January 03, 2005, Pages: 71–78, Hiroyasu Ishida, Akira Togayachi, Tokiko Sakai, Toshie Iwai, Toru Hiruma, Takashi Sato, Reiko Okubo, Niro Inaba, Takashi Kudo, Masanori Gotoh, Junichi Shoda, Naomi Tanaka and Hisashi Narimatsu

    Article first published online : 28 NOV 2004, DOI: 10.1016/j.febslet.2004.11.037

  12. Congenital disorders of glycosylation and intellectual disability

    Developmental Disabilities Research Reviews

    Volume 17, Issue 3, June 2013, Pages: 211–225, Lynne A. Wolfe and Donna Krasnewich

    Article first published online : 24 JUN 2013, DOI: 10.1002/ddrr.1115

  13. Architecture of B3G Wireless Systems

    Next Generation Wireless Systems and Networks

    Hsiao-Hwa Chen, Mohsen Guizani, Pages: 249–265, 2006

    Published Online : 15 JUN 2006, DOI: 10.1002/0470024569.ch6

  14. Impaired sexual behavior in male mice deficient for the β1–3 N-Acetylglucosaminyltransferase-I gene

    Molecular Reproduction and Development

    Volume 75, Issue 5, May 2008, Pages: 699–706, Franziska Biellmann, Timothy R. Henion, Kurt Bürki and Thierry Hennet

    Article first published online : 15 NOV 2007, DOI: 10.1002/mrd.20828

  15. Genomics and anterior segment dysgenesis: a review

    Clinical & Experimental Ophthalmology

    Volume 42, Issue 1, January/February 2014, Pages: 13–24, Yoko A Ito and Michael A Walter

    Article first published online : 29 JUL 2013, DOI: 10.1111/ceo.12152

  16. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2691–2696, Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers and Heather C. Mefford

    Article first published online : 18 JUN 2015, DOI: 10.1002/ajmg.a.37209

  17. Lactosamine modulates the rate of migration of GnRH neurons during mouse development

    European Journal of Neuroscience

    Volume 24, Issue 3, August 2006, Pages: 654–660, Elizabeth Bless, Denitza Raitcheva, Timothy R. Henion, Stuart Tobet and Gerald A. Schwarting

    Article first published online : 14 AUG 2006, DOI: 10.1111/j.1460-9568.2006.04955.x

  18. Heinrich Obersteiner and the Neurological Institute: Foundation and History of Neuroscience in Vienna

    Brain Pathology

    Volume 2, Issue 2, April 1992, Pages: 163–168, Franz Seitelberger

    Article first published online : 28 JAN 2008, DOI: 10.1111/j.1750-3639.1992.tb00685.x

  19. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2785–2795, Steven B. Bleyl, Janice L.B. Byrne, Sarah T. South, David C. Dries, David A. Stevenson, Alan F. Rope, Angela M. Vianna-Morgante, Gary C. Schoenwolf, Jane D. Kivlin, Arthur Brothman and John C. Carey

    Article first published online : 9 NOV 2007, DOI: 10.1002/ajmg.a.32036

  20. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy—Report of the second family with B3GAT3 mutation and expansion of the phenotype

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1580–1586, Julia E. von Oettingen, Wen-Hann Tan and Andrew Dauber

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36487