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Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
Published in:
Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.642849
By:
- Stippel, Michaela;
- Riedhammer, Korbinian M.;
- Lange-Sperandio, Bärbel;
- Geßner, Michaela;
- Braunisch, Matthias C.;
- Günthner, Roman;
- Bald, Martin;
- Schmidts, Miriam;
- Strotmann, Peter;
- Tasic, Velibor;
- Schmaderer, Christoph;
- Renders, Lutz;
- Heemann, Uwe;
- Hoefele, Julia
Publication type:
Article
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Published in:
2020
By:
- Chatron, Nicolas;
- Becker, Felicitas;
- Morsy, Heba;
- Schmidts, Miriam;
- Hardies, Katia;
- Tuysuz, Beyhan;
- Roselli, Sandra;
- Najafi, Maryam;
- Alkaya, Dilek Uludag;
- Ashrafzadeh, Farah;
- Nabil, Amira;
- Omar, Tarek;
- Maroofian, Reza;
- Karimiani, Ehsan Ghayoor;
- Hussien, Haytham;
- Kok, Fernando;
- Ramos, Luiza;
- Gunes, Nilay;
- Bilguvar, Kaya;
- Labalme, Audrey
Publication type:
journal article
Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Published in:
2021
By:
- Cheng, Yurong;
- Schlosser, Pascal;
- Hertel, Johannes;
- Sekula, Peggy;
- Oefner, Peter J.;
- Spiekerkoetter, Ute;
- Mielke, Johanna;
- Freitag, Daniel F.;
- Schmidts, Miriam;
- GCKD Investigators;
- Kronenberg, Florian;
- Eckardt, Kai-Uwe;
- Thiele, Ines;
- Li, Yong;
- Köttgen, Anna
Publication type:
Correction Notice
Emerging principles of primary cilia dynamics in controlling tissue organization and function.
Published in:
EMBO Journal, 2023, v. 42, n. 21, p. 1, doi. 10.15252/embj.2023113891
By:
- Gopalakrishnan, Jay;
- Feistel, Kerstin;
- Friedrich, Benjamin M;
- Grapin‐Botton, Anne;
- Jurisch‐Yaksi, Nathalie;
- Mass, Elvira;
- Mick, David U;
- Müller, Roman‐Ulrich;
- May‐Simera, Helen;
- Schermer, Bernhard;
- Schmidts, Miriam;
- Walentek, Peter;
- Wachten, Dagmar
Publication type:
Article
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Published in:
Nature Genetics, 2012, v. 44, n. 6, p. 714, doi. 10.1038/ng.2277
By:
- Panizzi, Jennifer R;
- Becker-Heck, Anita;
- Castleman, Victoria H;
- Al-Mutairi, Dalal A;
- Liu, Yan;
- Loges, Niki T;
- Pathak, Narendra;
- Austin-Tse, Christina;
- Sheridan, Eamonn;
- Schmidts, Miriam;
- Olbrich, Heike;
- Werner, Claudius;
- Häffner, Karsten;
- Hellman, Nathan;
- Chodhari, Rahul;
- Gupta, Amar;
- Kramer-Zucker, Albrecht;
- Olale, Felix;
- Burdine, Rebecca D;
- Schier, Alexander F
Publication type:
Article
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Published in:
Nature Genetics, 2012, v. 44, n. 4, p. 381, doi. 10.1038/ng.1106
By:
- Mitchison, Hannah M;
- Schmidts, Miriam;
- Loges, Niki T;
- Freshour, Judy;
- Dritsoula, Athina;
- Hirst, Rob A;
- O'Callaghan, Christopher;
- Blau, Hannah;
- Al Dabbagh, Maha;
- Olbrich, Heike;
- Beales, Philip L;
- Yagi, Toshiki;
- Mussaffi, Huda;
- Chung, Eddie M K;
- Omran, Heymut;
- Mitchell, David R
Publication type:
Article
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Published in:
Scientific Reports, 2016, p. 34764, doi. 10.1038/srep34764
By:
- Maria, Maleeha;
- Lamers, Ideke J. C.;
- Schmidts, Miriam;
- Ajmal, Muhammad;
- Jaffar, Sulman;
- Ullah, Ehsan;
- Mustafa, Bilal;
- Ahmad, Shakeel;
- Nazmutdinova, Katia;
- Hoskins, Bethan;
- van Wijk, Erwin;
- Koster-Kamphuis, Linda;
- Khan, Muhammad Imran;
- Beales, Phil L.;
- Cremers, Frans P. M.;
- Roepman, Ronald;
- Azam, Maleeha;
- Arts, Heleen H.;
- Qamar, Raheel
Publication type:
Article
Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney.
Published in:
PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082137
By:
- Westhoff, Jens H.;
- Giselbrecht, Stefan;
- Schmidts, Miriam;
- Schindler, Sebastian;
- Beales, Philip L.;
- Tönshoff, Burkhard;
- Liebel, Urban;
- Gehrig, Jochen
Publication type:
Article
Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance.
Published in:
PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036705
By:
- Hartleben, Björn;
- Widmeier, Eugen;
- Wanner, Nicola;
- Schmidts, Miriam;
- Sung Tae Kim;
- Schneider, Lisa;
- Mayer, Britta;
- Kerjaschki, Dontscho;
- Miner, Jeffrey H.;
- Walz, Gerd;
- Huber, Tobias B.
Publication type:
Article
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Published in:
2019
By:
- Najafi, Maryam;
- Bakey, Zeineb;
- Schmidts, Miriam;
- Kordi-Tamandani, Dor Mohammad;
- Behjati, Farkhondeh;
- Sadeghi-Bojd, Simin;
- Schüle, Isabel;
- Karimiani, Ehsan Ghayoor;
- Azarfar, Anoush
Publication type:
journal article
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6415, doi. 10.3390/jcm11216415
By:
- Baranzehi, Tayebeh;
- Kordi-Tamandani, Dor Mohammad;
- Najafi, Maryam;
- Khajeh, Ali;
- Schmidts, Miriam
Publication type:
Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Published in:
Nature Cell Biology, 2015, v. 17, n. 8, p. 1074, doi. 10.1038/ncb3201
By:
- Wheway, Gabrielle;
- Schmidts, Miriam;
- Mans, Dorus A.;
- Szymanska, Katarzyna;
- Nguyen, Thanh-Minh T.;
- Racher, Hilary;
- Phelps, Ian G.;
- Toedt, Grischa;
- Kennedy, Julie;
- Wunderlich, Kirsten A.;
- Sorusch, Nasrin;
- Abdelhamed, Zakia A.;
- Natarajan, Subaashini;
- Herridge, Warren;
- van Reeuwijk, Jeroen;
- Horn, Nicola;
- Boldt, Karsten;
- Parry, David A.;
- Letteboer, Stef J. F.;
- Roosing, Susanne
Publication type:
Article
A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.
Published in:
BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-0999-x
By:
- Amirav, Israel;
- Mussaffi, Huda;
- Roth, Yehudah;
- Schmidts, Miriam;
- Omran, Heymut;
- Werner, Claudius
Publication type:
Article
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Published in:
2022
By:
- Rad, Aboulfazl;
- Najafi, Maryam;
- Suri, Fatemeh;
- Abedini, Soheila;
- Loum, Stephen;
- Karimiani, Ehsan Ghayoor;
- Daftarian, Narsis;
- Murphy, David;
- Doosti, Mohammad;
- Moghaddasi, Afrooz;
- Ahmadieh, Hamid;
- Sabbaghi, Hamideh;
- Rajati, Mohsen;
- Hashemi, Narges;
- Vona, Barbara;
- Schmidts, Miriam
Publication type:
journal article
Primary cilia-regulated transcriptome in the renal collecting duct.
Published in:
FASEB Journal, 2018, v. 32, n. 7, p. 3653, doi. 10.1096/fj.201701228R
By:
- Mohammed, Sami G.;
- Arjona, Francisco J.;
- Verschuren, Eric H. J.;
- Bakey, Zeineb;
- Alkema, Wynand;
- van Hijum, Sacha;
- Schmidts, Miriam;
- Bindels, René J. M.;
- Hoenderop, Joost G. J.
Publication type:
Article
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Published in:
Nature Communications, 2016, v. 7, n. 3, p. 11270, doi. 10.1038/ncomms11270
By:
- Schmidts, Miriam;
- Hou, Yuqing;
- Cortés, Claudio R.;
- Mans, Dorus A.;
- Huber, Celine;
- Boldt, Karsten;
- Patel, Mitali;
- van Reeuwijk, Jeroen;
- Plaza, Jean-Marc;
- van Beersum, Sylvia E. C.;
- Yap, Zhi Min;
- Letteboer, Stef J. F.;
- Taylor, S. Paige;
- Herridge, Warren;
- Johnson, Colin A.;
- Scambler, Peter J.;
- Ueffing, Marius;
- Kayserili, Hulya;
- Krakow, Deborah;
- King, Stephen M.
Publication type:
Article
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Published in:
Nature Communications, 2015, v. 6, n. 6, p. 7074, doi. 10.1038/ncomms8074
By:
- Schmidts, Miriam;
- Hou, Yuqing;
- Cortés, Claudio R.;
- Mans, Dorus A.;
- Huber, Celine;
- Boldt, Karsten;
- Patel, Mitali;
- van Reeuwijk, Jeroen;
- Plaza, Jean-Marc;
- van Beersum, Sylvia E. C.;
- Yap, Zhi Min;
- Letteboer, Stef J. F.;
- Taylor, S. Paige;
- Herridge, Warren;
- Johnson, Colin A.;
- Scambler, Peter J.;
- Ueffing, Marius;
- Kayserili, Hulya;
- Krakow, Deborah;
- King, Stephen M.
Publication type:
Article
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Published in:
Clinical Genetics, 2022, v. 102, n. 6, p. 530, doi. 10.1111/cge.14208
By:
- Nagy, Sara;
- Lau, Tracy;
- Alavi, Shahryar;
- Karimiani, Ehsan Ghayoor;
- Vallian, Jalal;
- Ng, Bobby G.;
- Noroozi Asl, Samaneh;
- Akhondian, Javad;
- Bahreini, Amir;
- Yaghini, Omid;
- Uapinyoying, Prech;
- Bonnemann, Carsten;
- Freeze, Hudson H.;
- Dissanayake, Vajira H. W.;
- Sirisena, Nirmala D.;
- Schmidts, Miriam;
- Houlden, Henry;
- Moreno‐De‐Luca, Andres;
- Maroofian, Reza
Publication type:
Article
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.
Published in:
2020
By:
- Walczak-Sztulpa, Joanna;
- Posmyk, Renata;
- Bukowska-Olech, Ewelina M.;
- Wawrocka, Anna;
- Jamsheer, Aleksander;
- Oud, Machteld M.;
- Schmidts, Miriam;
- Arts, Heleen H.;
- Latos-Bielenska, Anna;
- Wasilewska, Anna
Publication type:
journal article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410
By:
- Shaheen, Ranad;
- Schmidts, Miriam;
- Faqeih, Eissa;
- Hashem, Amal;
- Lausch, Ekkehart;
- Holder, Isabel;
- Superti-Furga, Andrea;
- Mitchison, Hannah M.;
- Almoisheer, Agaadir;
- Alamro, Rana;
- Alshiddi, Tarfa;
- Alzahrani, Fatma;
- Beales, Philip L.;
- Alkuraya, Fowzan S.
Publication type:
Article
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 13, p. 3362
By:
- Onoufriadis, Alexandros;
- Shoemark, Amelia;
- Schmidts, Miriam;
- Patel, Mitali;
- Jimenez, Gina;
- Liu, Hui;
- Thomas, Biju;
- Dixon, Mellisa;
- Hirst, Robert A.;
- Rutman, Andrew;
- Burgoyne, Thomas;
- Williams, Christopher;
- Scully, Juliet;
- Bolard, Florence;
- Lafitte, Jean-Jacques;
- Beales, Philip L.;
- Hogg, Claire;
- Yang, Pinfen;
- Chung, Eddie M.K.;
- Emes, Richard D.
Publication type:
Article
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 749, doi. 10.3390/diagnostics11050749
By:
- Grünert, Sarah C.;
- Matysiak, Uta;
- Hodde, Franka;
- Ruzaike, Gunda;
- Lausch, Ekkehart;
- Schumann, Anke;
- van der Werf-Grohmann, Natascha;
- Spiekerkoetter, Ute;
- Schmidts, Miriam;
- Sergi, Consolato M.
Publication type:
Article
Ciliary Dyneins and Dynein Related Ciliopathies.
Published in:
Cells (2073-4409), 2021, v. 10, n. 8, p. 1885, doi. 10.3390/cells10081885
By:
- Antony, Dinu;
- Brunner, Han G.;
- Schmidts, Miriam
Publication type:
Article
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes--Challenges for the Accurate Diagnosis.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.931822
By:
- Walczak-Sztulpa, Joanna;
- Wawrocka, Anna;
- Doornbos, Cenna;
- van Beek, Ronald;
- Sowińska-Seidler, Anna;
- Jamsheer, Aleksander;
- Bukowska-Olech, Ewelina;
- Latos-Bieleńska, Anna;
- Grenda, Ryszard;
- Bongers, Ernie M. H. F.;
- Schmidts, Miriam;
- Obersztyn, Ewa;
- Krawczyński, Maciej R.;
- Oud, Machteld M.
Publication type:
Article
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.861236
By:
- Antony, Dinu;
- Gulec Yilmaz, Elif;
- Gezdirici, Alper;
- Slagter, Lennart;
- Bakey, Zeineb;
- Bornaun, Helen;
- Tanidir, Ibrahim Cansaran;
- Van Dinh, Tran;
- Brunner, Han G.;
- Walentek, Peter;
- Arnold, Sebastian J.;
- Backofen, Rolf;
- Schmidts, Miriam
Publication type:
Article
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus.
Published in:
PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004577
By:
- Diggle, Christine P.;
- Moore, Daniel J.;
- Mali, Girish;
- zur Lage, Petra;
- Ait-Lounis, Aouatef;
- Schmidts, Miriam;
- Shoemark, Amelia;
- Garcia Munoz, Amaya;
- Halachev, Mihail R.;
- Gautier, Philippe;
- Yeyati, Patricia L.;
- Bonthron, David T.;
- Carr, Ian M.;
- Hayward, Bruce;
- Markham, Alexander F.;
- Hope, Jilly E.;
- von Kriegsheim, Alex;
- Mitchison, Hannah M.;
- Jackson, Ian J.;
- Durand, Bénédicte
Publication type:
Article
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.
Published in:
Human Mutation, 2013, v. 34, n. 5, p. 714, doi. 10.1002/humu.22294
By:
- Schmidts, Miriam;
- Frank, Valeska;
- Eisenberger, Tobias;
- al Turki, Saeed;
- Bizet, Albane A.;
- Antony, Dinu;
- Rix, Suzanne;
- Decker, Christian;
- Bachmann, Nadine;
- Bald, Martin;
- Vinke, Tobias;
- Toenshoff, Burkhard;
- Di Donato, Natalia;
- Neuhann, Theresa;
- Hartley, Jane L.;
- Maher, Eamonn R.;
- Bogdanović, Radovan;
- Peco‐Antić, Amira;
- Mache, Christoph;
- Hurles, Matthew E.
Publication type:
Article
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261
By:
- Antony, Dinu;
- Becker‐Heck, Anita;
- Zariwala, Maimoona A.;
- Schmidts, Miriam;
- Onoufriadis, Alexandros;
- Forouhan, Mitra;
- Wilson, Robert;
- Taylor‐Cox, Theresa;
- Dewar, Ann;
- Jackson, Claire;
- Goggin, Patricia;
- Loges, Niki T.;
- Olbrich, Heike;
- Jaspers, Martine;
- Jorissen, Mark;
- Leigh, Margaret W.;
- Wolf, Whitney E.;
- Daniels, M. Leigh Anne;
- Noone, Peadar G.;
- Ferkol, Thomas W.
Publication type:
Article
Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 24, p. 3397, doi. 10.1093/hmg/ddg360
By:
- Huber, Tobias B.;
- Simons, Matias;
- Hartleben, Björn;
- Sernetz, Leonie;
- Schmidts, Miriam;
- Gundlach, Enken;
- Saleem, Moin A.;
- Walz, Gerd;
- Benzing, Thomas
Publication type:
Article
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
Published in:
Genes, 2023, v. 14, n. 7, p. 1408, doi. 10.3390/genes14071408
By:
- Grünert, Sarah C.;
- Ziagaki, Athanasia;
- Heinen, André;
- Schumann, Anke;
- Tucci, Sara;
- Spiekerkoetter, Ute;
- Schmidts, Miriam
Publication type:
Article
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Published in:
Genes, 2021, v. 13, n. 6, p. 879, doi. 10.3390/genes12060879
By:
- Schüle, Isabel;
- Berger, Urs;
- Matysiak, Uta;
- Ruzaike, Gunda;
- Stiller, Brigitte;
- Pohl, Martin;
- Spiekerkoetter, Ute;
- Lausch, Ekkehart;
- Grünert, Sarah C.;
- Schmidts, Miriam
Publication type:
Article
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20877-8
By:
- Cheng, Yurong;
- Schlosser, Pascal;
- Hertel, Johannes;
- Sekula, Peggy;
- Oefner, Peter J.;
- Spiekerkoetter, Ute;
- Mielke, Johanna;
- Freitag, Daniel F.;
- Schmidts, Miriam;
- GCKD Investigators;
- Kronenberg, Florian;
- Eckardt, Kai-Uwe;
- Thiele, Ines;
- Li, Yong;
- Köttgen, Anna
Publication type:
Article

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