DETERMINAÇÃO DA BASE MOLECULAR DA SÍNDROME ABLEFARIA MACROSTOMIA

Kazushige Hanaoka, Feng Qian, Alessandra Boletta, Anil K. Bhunia, Klaus Piontek, Leonidas Tsiokas, Vikas P. Sukhatme, William B. Guggino, Gregory G. Germino, Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents Nature. ,vol. 408, pp. 990- 994 ,(2000) , 10.1038/35050128

J. Staudinger, M. Perry, S.J. Elledge, E.N. Olson, Interactions among vertebrate helix-loop-helix proteins in yeast using the two-hybrid system Journal of Biological Chemistry. ,vol. 268, pp. 4608- 4611 ,(1993) , 10.1016/S0021-9258(18)53440-2

Elizabeth A. Worthey, Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing Derived Variants for Clinical Diagnosis Current protocols in human genetics. ,vol. 95, ,(2017) , 10.1002/CPHG.49

Jeong Eon Lee, Hee Joung Kim, Ji Yeon Bae, Seok Won Kim, Joon-Suk Park, Hyuk Jai Shin, Wonshik Han, Sung-Won Kim, Kyung-Sun Kang, Dong-Young Noh, None, Neogenin expression may be inversely correlated to the tumorigenicity of human breast cancer. BMC Cancer. ,vol. 5, pp. 154- 154 ,(2005) , 10.1186/1471-2407-5-154

Ingrid R. Vetter, Christine Nowak, Takeharu Nishimoto, Jürgen Kuhlmann, Alfred Wittinghofer, Structure of a Ran-binding domain complexed with Ran bound to a GTP analogue: implications for nuclear transport. Nature. ,vol. 398, pp. 39- 46 ,(1999) , 10.1038/17969

Luis A. Milla, Andrea Arros, Natalie Espinoza, Marc Remke, Marcel Kool, Michael D. Taylor, Stefan M. Pfister, Brandon J. Wainwright, Verónica Palma, Neogenin1 is a Sonic Hedgehog target in medulloblastoma and is necessary for cell cycle progression International Journal of Cancer. ,vol. 134, pp. 21- 31 ,(2014) , 10.1002/IJC.28330

R Witzgall, E O'Leary, R Gessner, A J Ouellette, J V Bonventre, Kid-1, a putative renal transcription factor: regulation during ontogeny and in response to ischemia and toxic injury. Molecular and Cellular Biology. ,vol. 13, pp. 1933- 1942 ,(1993) , 10.1128/MCB.13.3.1933

Benjamin Kramer, Marta Valcarcel, Arnold H. Einhorn, Howard Setleis, CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE. Pediatrics. ,vol. 32, pp. 540- 548 ,(1963)

Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol C. Voermans, A. Reghan Foley, Meganne E. Leach, Jahannaz Dastgir, Véronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B. Schindler, Erik-Jan Kamsteeg, Pascale Richard, Russell J. Butterfield, Thomas L. Winder, Thomas O. Crawford, Robert B. Weiss, Francesco Muntoni, Valérie Allamand, Carsten G. Bönnemann, Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Human Mutation. ,vol. 36, pp. 48- 56 ,(2015) , 10.1002/HUMU.22691

Nicole H. Wilson, Brian Key, Neogenin: one receptor, many functions. The International Journal of Biochemistry & Cell Biology. ,vol. 39, pp. 874- 878 ,(2007) , 10.1016/J.BIOCEL.2006.10.023