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Titel: Epigenetics in ENS development and Hirschsprung disease
Auteur(s): Torroglosa, A., Alves, M.M., Fernández, R.M., Antiñolo, G., Hofstra, R.M., Borrego, S.
Tijdschrift: Developmental Biology
Start- en eindpagina: 209 - 216
Publicatiedatum: 01-09-2016
DOI: 10.1016/j.ydbio.2016.06.017

Titel: Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Auteur(s): Tang, Clara Sze-man, Gui, Hongsheng, Kapoor, Ashish, Kim, Jeong-Hyun, Luzón-Toro, Berta, Pelet, Anna, Burzynski, Grzegorz, Lantieri, Francesca, So, Man-ting, Berrios, Courtney, Shin, Hyoung Doo, Fernández, Raquel M., Le, Thuy-Linh, Verheij, Joke B.G.M., Matera, Ivana, Cherny, Stacey S., Nandakumar, Priyanka, Cheong, Hyun Sub, Antiñolo, Guillermo, Amiel, Jeanne, Seo, Jeong-Meen, Kim, Dae-Yeon, Oh, Jung-Tak, Lyonnet, Stanislas, Borrego, Salud, Ceccherini, Isabella, Hofstra, Robert M.W., Chakravarti, Aravinda, Kim, Hyun-Young, Sham, Pak Chung, Tam, Paul K.H., Garcia-Barceló, Maria-Mercè
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 5265 - 5275
Publicatiedatum: 03-10-2016
DOI: 10.1093/hmg/ddw333

Titel: NDRG4, an early detection marker for colorectal cancer, is specifically expressed in enteric neurons
Auteur(s): Vaes, N., Lentjes, M. H. F. M., Gijbels, M. J., Rademakers, G., Daenen, K. L., Boesmans, W., Wouters, K. A. D., Geuzens, A., Qu, X., Steinbusch, H. P. J., Rutten, B. P. F., Baldwin, S. H., Sharkey, K. A., Hofstra, R. M. W., van Engeland, M., Vanden Berghe, P., Melotte, V.
Tijdschrift: Neurogastroenterology & Motility
Start- en eindpagina: 1 - 1
Publicatiedatum: 19-05-2017
DOI: 10.1111/nmo.13095

Titel: Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Auteur(s): Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antinolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
Tijdschrift: Genome Biology
Start- en eindpagina: 48 - 48
Publicatiedatum: 01-03-2017
DOI: 10.1186/s13059-017-1174-6

Titel: The enteric nervous system: From embryology to therapy
Auteur(s): Burns, Alan J., Hofstra, Robert M.W.
Tijdschrift: Developmental Biology
Start- en eindpagina: 127 - 128
Publicatiedatum: 01-09-2016
DOI: 10.1016/j.ydbio.2016.08.013

Titel: Genetics of enteric neuropathies
Auteur(s): Brosens, Erwin, Burns, Alan J., Brooks, Alice S., Matera, Ivana, Borrego, Salud, Ceccherini, Isabella, Tam, Paul K., García-Barceló, Maria-Mercè, Thapar, Nikhil, Benninga, Marc A., Hofstra, Robert M.W., Alves, Maria M.
Tijdschrift: Developmental Biology
Start- en eindpagina: 198 - 208
Publicatiedatum: 01-09-2016
DOI: 10.1016/j.ydbio.2016.07.008

Titel: Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes
Auteur(s): Schriemer, Duco, Sribudiani, Yunia, IJpma, Arne, Natarajan, Dipa, MacKenzie, Katherine C., Metzger, Marco, Binder, Ellen, Burns, Alan J., Thapar, Nikhil, Hofstra, Robert M.W., Eggen, Bart J.L.
Tijdschrift: Developmental Biology
Start- en eindpagina: 255 - 265
Publicatiedatum: 01-08-2016
DOI: 10.1016/j.ydbio.2016.06.004

Titel: White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies
Auteur(s): Burns, Alan J., Goldstein, Allan M., Newgreen, Donald F., Stamp, Lincon, Schäfer, Karl-Herbert, Metzger, Marco, Hotta, Ryo, Young, Heather M., Andrews, Peter W., Thapar, Nikhil, Belkind-Gerson, Jaime, Bondurand, Nadege, Bornstein, Joel C., Chan, Wood Yee, Cheah, Kathryn, Gershon, Michael D., Heuckeroth, Robert O., Hofstra, Robert M.W., Just, Lothar, Kapur, Raj P., King, Sebastian K., McCann, Conor J., Nagy, Nandor, Ngan, Elly, Obermayr, Florian, Pachnis, Vassilis, Pasricha, Pankaj J., Sham, Mai Har, Tam, Paul, Vanden Berghe, Pieter
Tijdschrift: Developmental Biology
Start- en eindpagina: 229 - 251
Publicatiedatum: 01-05-2016
DOI: 10.1016/j.ydbio.2016.04.001

Titel: Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Auteur(s): Alves, Maria M., Sribudiani, Yunia, Brouwer, Rutger W.W., Amiel, Jeanne, Antiñolo, Guillermo, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Fernández, Raquel M., Garcia-Barcelo, Maria-Mercè, Griseri, Paola, Lyonnet, Stanislas, Tam, Paul K., van IJcken, Wilfred F.J., Eggen, Bart J.L., te Meerman, Gerard J., Hofstra, Robert M.W.
Tijdschrift: Developmental Biology
Start- en eindpagina: 320 - 329
Publicatiedatum: 01-01-2013
DOI: 10.1016/j.ydbio.2013.05.019

Titel: Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability
Auteur(s): Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 581 - 596
Publicatiedatum: 01-07-2015
DOI: 10.1016/j.ajhg.2015.02.014

Titel: Hirschsprung Disease and Activation of Hedgehog Signaling via GLI1-3 Mutations
Auteur(s): Young, Heather M., Stamp, Lincon A., Hofstra, Robert M.W.
Tijdschrift: Gastroenterology
Start- en eindpagina: 1672 - 1675
Publicatiedatum: 01-12-2015
DOI: 10.1053/j.gastro.2015.10.023

Titel: RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling
Auteur(s): Widowati, Titis, Melhem, Shamiram, Patria, Suryono Y, de Graaf, Bianca M, Sinke, Richard J, Viel, Martijn, Dijkhuis, Jos, Sadewa, Ahmad H, Purwohardjono, Rochadi, Soenarto, Yati, Hofstra, Robert MW, Sribudiani, Yunia
Tijdschrift: European Journal of Human Genetics
Start- en eindpagina: 823 - 829
Publicatiedatum: 01-06-2016
DOI: 10.1038/ejhg.2015.214

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