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There are 7794 results for: content related to: Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new 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. 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

  3. 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

  4. 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

  5. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1842–1845, Chad R. Haldeman-Englert, Taiyabah Naeem, Elizabeth A. Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L. Davidson, Matthew A. Deardorff, Elaine H. Zackai and Tamim H. Shaikh

    Article first published online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32980

  6. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 492–495, A.A. Vorster, P. Beighton and R.S. Ramesar

    Article first published online : 22 MAY 2014, DOI: 10.1111/cge.12413

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

    American Journal of Medical Genetics Part A

    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

  8. Proteomic identification of specific glycosyltransferases functionally implicated for the biosynthesis of a targeted glyco-epitope

    PROTEOMICS

    Volume 8, Issue 3, No. 3 February 2008, Pages: 475–483, Chi-Hung Lin, Chia-Wei Lin and Kay-Hooi Khoo

    Article first published online : 9 JAN 2008, DOI: 10.1002/pmic.200700710

  9. You have free access to this content
    Suppression of β1,3galactosyltransferase β3Gal-T5 in cancer cells reduces sialyl-Lewis a and enhances poly N-acetyllactosamines and sialyl-Lewis x on O-glycans

    European Journal of Biochemistry

    Volume 271, Issue 1, January 2004, Pages: 186–194, Lydia Mare and Marco Trinchera

    Article first published online : 11 DEC 2003, DOI: 10.1046/j.1432-1033.2003.03919.x

  10. 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

  11. 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

  12. Scientific Section

    Transfusion

    Volume 43, Issue 9s, September 2003, Pages: 1A–130A,

    Article first published online : 27 AUG 2003, DOI: 10.1046/j.1537-2995.43.9s.6.x

  13. P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems

    Transfusion

    Volume 53, Issue 11pt2, November 2013, Pages: 2928–2939, Julia S. Westman, Åsa Hellberg, Thierry Peyrard, Hein Hustinx, Britt Thuresson and Martin L. Olsson

    Article first published online : 8 AUG 2013, DOI: 10.1111/trf.12355

  14. Scientific Section

    Transfusion

    Volume 45, Issue s3, September 2005, Pages: 1A–151A,

    Article first published online : 7 SEP 2005, DOI: 10.1111/j.1537-2995.2005.00629_1.x

  15. Expression profiling of 68 glycosyltransferase genes in 27 different human tissues by the systematic multiplex reverse transcription-polymerase chain reaction method revealed clustering of sexually related tissues in hierarchical clustering algorithm analysis

    ELECTROPHORESIS

    Volume 24, Issue 14, No. 14 July 2003, Pages: 2295–2307, Miyako Yamamoto, Fumiya Yamamoto, Trang T. Luong, Tristan Williams, Yoshihiko Kominato and Fumiichiro Yamamoto

    Article first published online : 16 JUL 2003, DOI: 10.1002/elps.200305459

  16. You have free access to this content
    Abstracts

    Journal of Neurochemistry

    Volume 99, Issue s1, December 2006, Pages: 1–35,

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.0022-3042.2006.04234.x

  17. You have free access to this content
    Changes in Glycosphingolipid Composition During Differentiation of Human Embryonic Stem Cells to Ectodermal or Endodermal Lineages

    STEM CELLS

    Volume 29, Issue 12, December 2011, Pages: 1995–2004, Yuh-Jin Liang, Bei-Chia Yang, Jin-Mei Chen, Yu-Hsing Lin, Chia-Lin Huang, Yuan-Yuan Cheng, Chi-Yen Hsu, Kay-Hooi Khoo, Chia-Ning Shen and John Yu

    Article first published online : 16 NOV 2011, DOI: 10.1002/stem.750

  18. You have full text access to this OnlineOpen article
    Comparative methylome analysis in solid tumors reveals aberrant methylation at chromosome 6p in nasopharyngeal carcinoma

    Cancer Medicine

    Volume 4, Issue 7, July 2015, Pages: 1079–1090, Wei Dai, Arthur Kwok Leung Cheung, Josephine Mun Yee Ko, Yue Cheng, Hong Zheng, Roger Kai Cheong Ngan, Wai Tong Ng, Anne Wing Mui Lee, Chun Chung Yau, Victor Ho Fu Lee and Maria Li Lung

    Article first published online : 29 APR 2015, DOI: 10.1002/cam4.451

  19. Inheritance of the F4ab, F4ac and F4ad E. coli receptors in swine and examination of four candidate genes for F4acR

    Journal of Animal Breeding and Genetics

    Volume 122, Issue s1, April 2005, Pages: 5–14, P. Python, H. Jörg, S. Neuenschwander, M. Asai-Coakwell, C. Hagger, E. Bürgi, H.U. Bertschinger, G. Stranzinger and P. Vögeli

    Article first published online : 24 FEB 2005, DOI: 10.1111/j.1439-0388.2005.00490.x

  20. Molecular basis for the p and Pk phenotypes in three Chinese individuals

    Transfusion Medicine

    Volume 23, Issue 2, April 2013, Pages: 132–133, X. Z. Hong, X. G. Xu, Y. L. Ying, Y. Liu, K. R. Ma, X. F. Lan, J. He, F. M. Zhu and H. J. Lv

    Article first published online : 29 JAN 2013, DOI: 10.1111/tme.12008