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There are 1501625 results for: content related to: A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

  1. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects

    Clinical Endocrinology

    Volume 82, Issue 4, April 2015, Pages: 562–569, Sabrina Soares Paulo, Fábio L. Fernandes-Rosa, Wendy Turatti, Fernanda Borchers Coeli-Lacchini, Carlos E. Martinelli Jr, Guilherme S. Nakiri, Ayrton C. Moreira, Antônio C. Santos, Margaret de Castro and Sonir R. Antonini

    Article first published online : 22 SEP 2014, DOI: 10.1111/cen.12565

  2. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

    Clinical Endocrinology

    Volume 82, Issue 5, May 2015, Pages: 728–738, L.C. Gregory, C. Gaston-Massuet, C.L. Andoniadou, G. Carreno, E.A. Webb, D. Kelberman, M.J. McCabe, L. Panagiotakopoulos, J.W. Saldanha, H.A. Spoudeas, J. Torpiano, M. Rossi, J. Raine, N. Canham, J.P. Martinez-Barbera and M.T. Dattani

    Article first published online : 9 DEC 2014, DOI: 10.1111/cen.12637

  3. Role of GLI2 in the growth of human osteosarcoma

    The Journal of Pathology

    Volume 224, Issue 2, June 2011, Pages: 169–179, Hiroko Nagao, Kosei Ijiri, Masataka Hirotsu, Yasuhiro Ishidou, Takuya Yamamoto, Satoshi Nagano, Takumi Takizawa, Kinichi Nakashima, Setsuro Komiya and Takao Setoguchi

    Article first published online : 19 APR 2011, DOI: 10.1002/path.2880

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    Increased proteolytic processing of full-length Gli2 transcription factor reduces the hedgehog pathway activity in vivo

    Developmental Dynamics

    Volume 240, Issue 4, April 2011, Pages: 766–774, Juan Li, Chengbing Wang, Yong Pan, Zengliang Bai and Baolin Wang

    Article first published online : 18 FEB 2011, DOI: 10.1002/dvdy.22578

  5. Clinical findings in patients with GLI2 mutations – phenotypic variability

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 70–75, CDP Bertolacini, LA Ribeiro-Bicudo, A Petrin, A Richieri-Costa and JC Murray

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01606.x

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    Gli2 activator function in preosteoblasts is sufficient to mediate ihh-dependent osteoblast differentiation, whereas the repressor function of Gli2 is dispensable for endochondral ossification

    Developmental Dynamics

    Volume 239, Issue 6, June 2010, Pages: 1818–1826, Dörthe Andrea Kesper, Lydia Didt-Koziel and Andrea Vortkamp

    Article first published online : 20 APR 2010, DOI: 10.1002/dvdy.22301

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    Gli2 Is a Novel Regulator of Sox2 Expression in Telencephalic Neuroepithelial Cells

    STEM CELLS

    Volume 27, Issue 1, January 2009, Pages: 165–174, Hiromi Takanaga, Nobuko Tsuchida-Straeten, Kenji Nishide, Akira Watanabe, Hiroyuki Aburatani and Toru Kondo

    Article first published online : 5 JAN 2009, DOI: 10.1634/stemcells.2008-0580

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    Cis-regulatory control of human GLI2 expression in the developing neural tube and limb bud

    Developmental Dynamics

    Volume 244, Issue 5, May 2015, Pages: 681–692, Rashid Minhas, Stefan Pauls, Shahid Ali, Laura Doglio, Muhammad Ramzan Khan, Greg Elgar and Amir Ali Abbasi

    Article first published online : 8 APR 2015, DOI: 10.1002/dvdy.24266

  9. Hedgehog signaling and congenital malformations

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 193–208, E Nieuwenhuis and C-c Hui

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00360.x

  10. GLI2 and M-MITF transcription factors control exclusive gene expression programs and inversely regulate invasion in human melanoma cells

    Pigment Cell & Melanoma Research

    Volume 24, Issue 5, October 2011, Pages: 932–943, Delphine Javelaud, Vasileia-Ismini Alexaki, Marie-Jeanne Pierrat, Keith S. Hoek, Sylviane Dennler, Leon Van Kempen, Corine Bertolotto, Robert Ballotti, Simon Saule, Véronique Delmas and Alain Mauviel

    Article first published online : 18 AUG 2011, DOI: 10.1111/j.1755-148X.2011.00893.x

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    Hedgehog pathway and pediatric nonalcoholic fatty liver disease

    Hepatology

    Volume 57, Issue 5, May 2013, Pages: 1814–1825, Marzena Swiderska-Syn, Ayako Suzuki, Cynthia D. Guy, Jeffrey B. Schwimmer, Manal F. Abdelmalek, Joel E. Lavine and Anna Mae Diehl

    Article first published online : 1 APR 2013, DOI: 10.1002/hep.26230

  12. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 1, January/February 2015, Pages: 17–32, Anna Petryk, Daniel Graf and Ralph Marcucio

    Article first published online : 22 OCT 2014, DOI: 10.1002/wdev.161

  13. GLI2 cooperates with ZEB1 for transcriptional repression of CDH1 expression in human melanoma cells

    Pigment Cell & Melanoma Research

    Volume 26, Issue 6, November 2013, Pages: 861–873, Carole Y. Perrot, Cristèle Gilbert, Véronique Marsaud, Antonio Postigo, Delphine Javelaud and Alain Mauviel

    Article first published online : 12 AUG 2013, DOI: 10.1111/pcmr.12149

  14. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 860–864, Nilrat Wannasilp, Benjamin D. Solomon, Nicole Warren-Mora, Nancy J. Clegg, Mauricio R. Delgado, Felicitas Lacbawan, Ping Hu, Thomas L. Winder, Erich Roessler and Maximilian Muenke

    Article first published online : 17 MAR 2011, DOI: 10.1002/ajmg.a.33903

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    Thyroid hormone-induced sonic hedgehog signal up-regulates its own pathway in a paracrine manner in the Xenopus laevis intestine during metamorphosis

    Developmental Dynamics

    Volume 241, Issue 2, February 2012, Pages: 403–414, Takashi Hasebe, Mitsuko Kajita, Liezhen Fu, Yun-Bo Shi and Atsuko Ishizuya-Oka

    Article first published online : 20 DEC 2011, DOI: 10.1002/dvdy.23723

  16. Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 276–278, Andrea Quintana, Matthew J. Garabedian and Robert J. Wallerstein

    Article first published online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36204

  17. Determinants of Gli2 co-activation of wildtype and naturally truncated androgen receptors

    The Prostate

    Volume 74, Issue 14, October 2014, Pages: 1400–1410, Na Li, Mengqian Chen, Sarah Truong, Chunhong Yan and Ralph Buttyan

    Article first published online : 11 AUG 2014, DOI: 10.1002/pros.22855

  18. Perspectives on asymmetry: The erickson lecture

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 2981–2998, M. Michael Cohen Jr.

    Article first published online : 6 NOV 2012, DOI: 10.1002/ajmg.a.34348

  19. A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 1121–1124, Ulrike Kordaß, Carmen Schröder, Miriam Elbracht, Lukas Soellner and Thomas Eggermann

    Article first published online : 28 MAR 2015, DOI: 10.1002/ajmg.a.36972

  20. The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 88, Issue 8, August 2010, Pages: 633–652, Jennifer N. Murdoch and Andrew J. Copp

    Article first published online : 11 JUN 2010, DOI: 10.1002/bdra.20686