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There are 67685 results for: content related to: Mutation analysis of B3GALTL in Peters Plus syndrome

  1. 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

  2. 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

  3. 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

  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. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. Multiple Access Technologies for B3G Wireless

    Next Generation Wireless Systems and Networks

    Hsiao-Hwa Chen, Mohsen Guizani, Pages: 267–330, 2006

    Published Online : 15 JUN 2006, DOI: 10.1002/0470024569.ch7

  13. 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

  14. 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

  15. Adaptive frame structure in B3G–TDD uplink

    Wireless Communications and Mobile Computing

    Volume 7, Issue 8, October 2007, Pages: 985–993, Li Lihua, Zhou Mingyu, Tao Xiaofeng and Zhang Ping

    Article first published online : 15 MAY 2007, DOI: 10.1002/wcm.490

  16. 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

  17. 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

  18. You have free access to this content
    Lactosamine differentially affects olfactory sensory neuron projections to the olfactory bulb

    Developmental Neurobiology

    Volume 67, Issue 12, October 2007, Pages: 1627–1640, Gerald A. Schwarting and Timothy R. Henion

    Article first published online : 13 JUN 2007, DOI: 10.1002/dneu.20536

  19. 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

  20. Voice over Wireless

    3G, 4G and Beyond-Bringing Networks, Devices and the Web Together, Second Edition

    Martin Sauter, Pages: 149–239, 2013

    Published Online : 11 JAN 2013, DOI: 10.1002/9781118394540.ch4