PMC Articles for MedGen (Select 382215) - PMC

Select item 100940711.

Renal‐hepatic‐pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity

Kathryn Gunther, Essam M. Imseis, Joyce P. Samuel, Elizabeth A. Hillman, Tiina H. Ojala, Timo Jahnukainen, Paul R. Hillman

Mol Genet Genomic Med. 2023 Apr; 11(4): e2135. Published online 2023 Feb 8. doi: 10.1002/mgg3.2135

PMCID:: PMC10094071

Abstract Article PDF–671K

Select item 95782402.

Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature

Hui Zhu, Zhi-hui Zhao, Shu-yao Zhu, Fu Xiong, Li-hong He, Yong Zhang, Jin Wang

BMC Pediatr. 2022; 22: 603. Published online 2022 Oct 18. doi: 10.1186/s12887-022-03659-7

PMCID:: PMC9578240

Abstract Article PDF–2.2M

Select item 91366033.

A novel multifunctional anti-PD-L1-CD16a-IL15 induces potent cancer cell killing in PD-L1-positive tumour cells

Yumei Li, Lingjun Wu, Yueying Liu, Siwen Ma, Biyi Huang, Xianjing Feng, Hui Wang

Transl Oncol. 2022 Jul; 21: 101424. Published online 2022 Apr 26. doi: 10.1016/j.tranon.2022.101424

PMCID:: PMC9136603

Abstract Article PDF–3.3M

Select item 73758474.

Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

Sonia Sharma

J Pediatr Genet. 2020 Sep; 9(3): 183–185. Published online 2019 Nov 11. doi: 10.1055/s-0039-1700802

PMCID:: PMC7375847

Abstract Article PDF–71K

Select item 71834015.

Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

Yeliz Cagan Appak, Masallah Baran, Burcu Ozturk Hismi, Berk Ozyilmaz, Kader Vardi, Ozge Ozer Kaya, Betul Aksoy, Belde Kasap Demir

J Pediatr Genet. 2020 Jun; 9(2): 101–103. Published online 2019 Sep 12. doi: 10.1055/s-0039-1696974

PMCID:: PMC7183401

Abstract Article PDF–76K

Select item 54316436.

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

C. Stayner, C. A. Poole, S. R. McGlashan, M. Pilanthananond, R. Brauning, D. Markie, B. Lett, L. Slobbe, A. Chae, A. C. Johnstone, C. G. Jensen, J. C. McEwan, K. Dittmer, K. Parker, A. Wiles, W. Blackburne, A. Leichter, M. Leask, A. Pinnapureddy, M. Jennings, J. A. Horsfield, R. J. Walker, M. R. Eccles

Sci Rep. 2017; 7: 1601. Published online 2017 May 9. doi: 10.1038/s41598-017-01519-4

PMCID:: PMC5431643

Abstract Article PDF–5.0M

Select item 27977277.

Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

Torunn Fiskerstrand, Gunnar Houge, Staale Sund, David Scheie, Sabine Leh, Helge Boman, Per M. Knappskog

J Mol Diagn. 2010 Jan; 12(1): 125–131. doi: 10.2353/jmoldx.2010.090033

PMCID:: PMC2797727

Abstract Article PDF–1.2M

Select item 27211548.

Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver

Julien Villeneuve, Fanny Pelluard-Nehme, Chantal Combe, Dominique Carles, Christine Chaponnier, Jean Ripoche, Charles Balabaud, Paulette Bioulac-Sage, Sébastien Lepreux

Comp Hepatol. 2009; 8: 5. Published online 2009 Jul 14. doi: 10.1186/1476-5926-8-5

PMCID:: PMC2721154

Abstract Article PDF–8.9M

Select item 24272979.

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Jan Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kränzlin, Gudrun Nürnberg, Christian Becker, Tiemo Grimm, Gundula Girschick, Sally A. Lynch, Peter Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, Peter Nürnberg, Norbert Gretz, Cecilia Lo, Soeren Lienkamp, Tobias Schäfer, Gerd Walz, Thomas Benzing, Klaus Zerres, Heymut Omran

Am J Hum Genet. 2008 Apr 11; 82(4): 959–970. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.02.017