Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ernie M. H. F. Bongers"'
Autor:
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macroc
Externí odkaz:
https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11
Autor:
Irma van deBeek, Iris E. Glykofridis, Anja Wagner, Dorine T. denToom, Ernie M. H. F. Bongers, Geert J. L. H. vanLeenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. vanSteensel, Hendrikus J. Dubbink, Arjan C. Houweling
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract Background We present a family consisting of a father and his two children with an exceptional phenotype of childhood renal cell carcinoma and brain tumors. Extensive genetic testing revealed two inherited tumor predisposition syndromes in a
Externí odkaz:
https://doaj.org/article/a9c2044213784ddca0ff837106d44238
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud
Publikováno v:
Frontiers in genetics. 13
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Autor:
Ilkka Pietilä, Renata Prunskaite-Hyyryläinen, Susanna Kaisto, Elisavet Tika, Albertien M van Eerde, Antti M Salo, Leonardo Garma, Ilkka Miinalainen, Wout F Feitz, Ernie M H F Bongers, André Juffer, Nine V A M Knoers, Kirsten Y Renkema, Johanna Myllyharju, Seppo J Vainio
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0147171 (2016)
The Wnts can be considered as candidates for the Congenital Anomaly of Kidney and Urinary Tract, CAKUT diseases since they take part in the control of kidney organogenesis. Of them Wnt5a is expressed in ureteric bud (UB) and its deficiency leads to d
Externí odkaz:
https://doaj.org/article/f90dbc8395b0473aaaf1480c485a84ce
Autor:
Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo
Publikováno v:
PLoS Genetics, Vol 9, Iss 3, p e1003360 (2013)
Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormal
Externí odkaz:
https://doaj.org/article/69eacb54876d4ebc8dd03f2134f20bbf
Autor:
Ernie M H F, Bongers, Luke M, Shelton, Susanne, Milatz, Sjoerd, Verkaart, Anneke P, Bech, Jeroen, Schoots, Elisabeth A M, Cornelissen, Markus, Bleich, Joost G J, Hoenderop, Jack F M, Wetzels, Dorien, Lugtenberg, Tom, Nijenhuis
Publikováno v:
Journal of the American Society of Nephrology : JASN. 28(10)
Mice lacking distal tubular expression of CLDN10, the gene encoding the tight junction protein Claudin-10, show enhanced paracellular magnesium and calcium permeability and reduced sodium permeability in the thick ascending limb (TAL), leading to a u
Autor:
Sander, Groen In 't Woud, Kirsten Y, Renkema, Michiel F, Schreuder, Charlotte H W, Wijers, Loes F M, van der Zanden, Nine V A M, Knoers, Wout F J, Feitz, Ernie M H F, Bongers, Nel, Roeleveld, Iris A L M, van Rooij
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 106(7)
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in spe
Autor:
Monica Marini, Roberto Ravazzolo, Marco Di Duca, Nine V A M Knoers, Roberto Cusano, Ernie M H F Bongers, Marco Seri
Publikováno v:
Scopus-Elsevier
International Journal of Molecular Medicine, 12, 1, pp. 79-82
International Journal of Molecular Medicine, 12, 79-82
International Journal of Molecular Medicine, 12, 1, pp. 79-82
International Journal of Molecular Medicine, 12, 79-82
Item does not contain fulltext Nail-patella syndrome (NPS), an autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and often associated with nephropathy and, less frequently, with open angle glauc