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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013258
By:
- van der Welle, Reini E N;
- Jobling, Rebekah;
- Burns, Christian;
- Sanza, Paolo;
- van der Beek, Jan A;
- Fasano, Alfonso;
- Chen, Lan;
- Zwartkruis, Fried J;
- Zwakenberg, Susan;
- Griffin, Edward F;
- ten Brink, Corlinda;
- Veenendaal, Tineke;
- Liv, Nalan;
- van Ravenswaaij‐Arts, Conny M A;
- Lemmink, Henny H;
- Pfundt, Rolph;
- Blaser, Susan;
- Sepulveda, Carolina;
- Lozano, Andres M;
- Yoon, Grace
Publication type:
Article
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12222, doi. 10.3390/ijms222212222
By:
- Vermeer, Franciscus C.;
- Bremer, Jeroen;
- Sietsma, Robert J.;
- Sandilands, Aileen;
- Hickerson, Robyn P.;
- Bolling, Marieke C.;
- Pasmooij, Anna M.G.;
- Lemmink, Henny H.;
- Swertz, Morris A.;
- Knoers, Nine V.A.M.;
- van der Velde, K. Joeri;
- van den Akker, Peter C.
Publication type:
Article
A novel KCNA1 mutation causing episodic ataxia type I.
Published in:
Muscle & Nerve, 2014, v. 50, n. 2, p. 289, doi. 10.1002/mus.24242
By:
- Lassche, Saskia;
- Lainez, Sergio;
- Bloem, Bastiaan R.;
- van de Warrenburg, Bart P.C.;
- Hofmeijer, Jeannette;
- Lemmink, Henny H.;
- Hoenderop, Joost G.J.;
- Bindels, René J.M.;
- Drost, Gea
Publication type:
Article
The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry.
Published in:
British Journal of Dermatology, 2022, v. 187, n. 5, p. 824, doi. 10.1111/bjd.21769
By:
- Harrs, Clara;
- van den Akker, Peter C.;
- Baardman, Rosalie;
- Duipmans, José C.;
- Horváth, Barbara;
- van Kester, Marloes S.;
- Lemmink, Henny H.;
- Rácz, Emoke;
- Bolling, Marieke C.;
- Diercks, Gilles F.H.
Publication type:
Article
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90
By:
- Rudnik-Schöneborn, Sabine;
- Eggermann, Thomas;
- Kress, Wolfram;
- Lemmink, Henny H;
- Cobben, Jan-Maarten;
- Zerres, Klaus
Publication type:
Article
Clinical utility gene card for: proximal spinal muscular atrophy.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.62
By:
- Rudnik-Schöneborn, Sabine;
- Eggermann, Thomas;
- Kress, Wolfram;
- Lemmink, Henny H;
- Cobben, Jan-Maarten;
- Zerres, Klaus
Publication type:
Article
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.
Published in:
Pediatric Nephrology, 1996, v. 10, n. 4, p. 403, doi. 10.1007/s004670050129
By:
- Lemmink, Henny H.;
- van den Heuvel, Lambert P. W. J.;
- van Dijk, Henk A.;
- Merkx, Gerard F. M.;
- Smilde, Tineke J.;
- Taschner, Peter E. M.;
- Monnens, Leo A. H.;
- Hebert, Steve C.;
- Knoers, Nine V. A. M.
Publication type:
Article
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.
Published in:
PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0167087
By:
- Wadman, Renske I.;
- Stam, Marloes;
- Jansen, Marc D.;
- van der Weegen, Yana;
- Wijngaarde, Camiel A.;
- Harschnitz, Oliver;
- Sodaar, Peter;
- Braun, Kees P. J.;
- Dooijes, Dennis;
- Lemmink, Henny H.;
- van den Berg, Leonard H.;
- van der Pol, W. Ludo
Publication type:
Article
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 4, p. e486, doi. 10.1111/jdv.18699
By:
- Clabbers, Julia M. K.;
- Bolling, Marieke C.;
- Burms, Charlotte;
- Vreeburg, Maaike;
- Lemmink, Henny H.;
- van den Akker, Peter C.;
- Steijlen, Peter M.;
- van Geel, Michel;
- Gostyński, Antoni H.
Publication type:
Article
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Published in:
Nephrology Dialysis Transplantation, 2000, v. 15, n. 7, p. 970, doi. 10.1093/ndt/15.7.970
By:
- Vollmer, Martin;
- Jeck, Nikola;
- Lemmink, Henny H.;
- Vargas, Rosa;
- Feldmann, Delphine;
- Konrad, Martin;
- Beekmann, Frank;
- van den Heuvel, Lambertus P. W. J.;
- Deschenes, Georges;
- Guay‐Woodford, Lisa M.;
- Antignac, Corinne;
- Seyberth, Hannsjörg W.;
- Hildebrandt, Friedhelm;
- Knoers, Nine V. A. M.
Publication type:
Article
Hyperkeratotic hand eczema: Eczema or not?
Published in:
Contact Dermatitis (01051873), 2020, v. 83, n. 3, p. 196, doi. 10.1111/cod.13572
By:
- Politiek, Klaziena;
- Loman, Laura;
- Pas, Hendri H.;
- Diercks, Gilles F.H.;
- Lemmink, Henny H.;
- Jan, Sabrina Z.;
- Akker, Peter C.;
- Bolling, Maria C.;
- Schuttelaar, Marie L.A.
Publication type:
Article
The clinical spectrum of type IV collagen mutations.
Published in:
Human Mutation, 1997, v. 9, n. 6, p. 477, doi. 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#
By:
- Lemmink, Henny H.;
- Schröder, Cornelis H.;
- Monnens, Leo A. H.;
- Smeets, Huber J. M.
Publication type:
Article
Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 8, p. 1269
By:
- Lemmink, Henny H.;
- MochlzukJ, Toshlo;
- van den Heuvel, Lambertus P.W.J.;
- Schröder, Cornells H.;
- Barrientos, Alberto;
- Monnens, Leo A.H.;
- van Oost, Bernard A.;
- Brunner, Han G.;
- Reeders, Stephen T.;
- Smeets, Hubert J.M.
Publication type:
Article
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 2, p. 317
By:
- LemmInk, Henny H.;
- KIuIjtmans, Léonard A.J.;
- Brunner, Han G.;
- Schröder, Cornells H.;
- Knebelmann, Bertrand;
- JelInková, Eva;
- Oost, Bernard A.van;
- Monnens, Leo A.H.;
- Smeets, Hubert J.M.
Publication type:
Article
Germline AGO2 mutations impair RNA interference and human neurological development.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
By:
- Lessel, Davor;
- Zeitler, Daniela M.;
- Reijnders, Margot R. F.;
- Kazantsev, Andriy;
- Hassani Nia, Fatemeh;
- Bartholomäus, Alexander;
- Martens, Victoria;
- Bruckmann, Astrid;
- Graus, Veronika;
- McConkie-Rosell, Allyn;
- McDonald, Marie;
- Lozic, Bernarda;
- Tan, Ee-Shien;
- Gerkes, Erica;
- Johannsen, Jessika;
- Denecke, Jonas;
- Telegrafi, Aida;
- Zonneveld-Huijssoon, Evelien;
- Lemmink, Henny H.;
- Cham, Breana W. M.
Publication type:
Article
Identification of COL4A5 defects in Alport’s syndrome by immunohistochemistry of skin.
Published in:
Kidney International, 1999, v. 55, n. 4, p. 1217, doi. 10.1046/j.1523-1755.1999.00357.x
By:
- Van Der Loop, Frank T.L.;
- Monnens, Leo A.H.;
- Schröder, Cornelis H.;
- Lemmink, Henny H.;
- Breuning, Martijn H.;
- Timmer, Erika D.J.;
- Smeets, Hubert J.M.
Publication type:
Article
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Published in:
Kidney International, 1998, v. 54, n. 3, p. 720, doi. 10.1046/j.1523-1755.1998.00070.x
By:
- Lemmink, Henny H.;
- Knoers, Nine V.A.M.;
- Károlyi, Lothar;
- van Dijk, Henk;
- Niaudet, Patrick;
- Antignac, Corinne;
- Guay-Woodford, Lisa M.;
- Goodyer, Paul R.;
- Carel, Jean-Claude;
- Hermes, Ad;
- Seyberth, Hansjörg W.;
- Monnens, Leo A. H.;
- van den Heuvel, Lambert P.W.J.
Publication type:
Article
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
Published in:
Kidney International, 1992, v. 42, n. 1, p. 83, doi. 10.1038/ki.1992.264
By:
- Smeets, Hubert J. M.;
- Melenhorst, Jos J.;
- Lemmink, Henny H.;
- Schröoder, Cock H.;
- Nelen, Marcel R.;
- Jing Zhou;
- Hostikka, Sirkka L.;
- Tryggvason, Karl;
- Ropers, Hans-Hilger;
- Jansweuer, Maaike C. E.;
- Monnens, Leo A. H.;
- Brunner, Han G.;
- van Oost, Bernard A.
Publication type:
Article

Found: 18