Clinical genetics and pathobiology of ciliary chondrodysplasias

di Schmidts, Miriam
Pubblicato in J Pediatr Genet (2014)

Editorial: Genetic Kidney Diseases of Childhood

di Schmidts, Miriam, Liebau, Max C.
Pubblicato in Front Pediatr (2018)

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

di Amirav, Israel, Mussaffi, Huda, Roth, Yehudah, Schmidts, Miriam, Omran, Heymut, Werner, Claudius
Pubblicato in BMC Res Notes (2015)

Cilia in Cystic Kidney and Other Diseases

di Pazour, Gregory J., Quarmby, Lynne, Smith, Abigail O., Desai, Paurav B., Schmidts, Miriam
Pubblicato in Cell Signal (2019)

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

di Grünert, Sarah Catharina, Schmidts, Miriam, Pohlenz, Joachim, Kopp, Matthias Volkmar, Uhl, Markus, Schwab, Karl Otfried
Pubblicazione 2011

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

di Maroofian, Reza, Schuele, Isabel, Najafi, Maryam, Bakey, Zeineb, Rad, Abolfazl, Antony, Dinu, Habibi, Haleh, Schmidts, Miriam
Pubblicato in Kidney Int Rep (2018)

Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney

di Westhoff, Jens H., Giselbrecht, Stefan, Schmidts, Miriam, Schindler, Sebastian, Beales, Philip L., Tönshoff, Burkhard, Liebel, Urban, Gehrig, Jochen
Pubblicazione 2013

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

di Schüle, Isabel, Berger, Urs, Matysiak, Uta, Ruzaike, Gunda, Stiller, Brigitte, Pohl, Martin, Spiekerkoetter, Ute, Lausch, Ekkehart, Grünert, Sarah C., Schmidts, Miriam
Pubblicato in Genes (Basel) (2021)

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

di Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
Pubblicato in Orphanet J Rare Dis (2019)

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

di Grünert, Sarah C., Matysiak, Uta, Hodde, Franka, Ruzaike, Gunda, Lausch, Ekkehart, Schumann, Anke, van der Werf-Grohmann, Natascha, Spiekerkoetter, Ute, Schmidts, Miriam
Pubblicato in Diagnostics (Basel) (2021)

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

di Najafi, Maryam, Tamandani, Dor Mohammad Kordi, Azarfar, Anoush, Bakey, Zeineb, Behjati, Farkhondeh, Antony, Dinu, Schüle, Isabel, Sadeghi-Bojd, Simin, Karimiani, Ehsan Ghayoor, Schmidts, Miriam
Pubblicato in Front Pediatr (2019)

Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance

di Hartleben, Björn, Widmeier, Eugen, Wanner, Nicola, Schmidts, Miriam, Kim, Sung Tae, Schneider, Lisa, Mayer, Britta, Kerjaschki, Dontscho, Miner, Jeffrey H., Walz, Gerd, Huber, Tobias B.
Pubblicazione 2012

Correction: Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance

di Hartleben, Björn, Widmeier, Eugen, Wanner, Nicola, Schmidts, Miriam, Kim, Sung Tae, Schneider, Lisa, Mayer, Britta, Kerjaschki, Dontscho, Miner, Jeffrey H., Walz, Gerd, Huber, Tobias B.
Pubblicazione 2014

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

di 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
Pubblicato in Orphanet J Rare Dis (2020)

Nephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling

di Huber, Tobias B., Hartleben, Björn, Kim, Jeong, Schmidts, Miriam, Schermer, Bernhard, Keil, Alexander, Egger, Lotti, Lecha, Rachel L., Borner, Christoph, Pavenstädt, Hermann, Shaw, Andrey S., Walz, Gerd, Benzing, Thomas
Pubblicazione 2003

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

di 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.
Pubblicato in Hum Mol Genet (2015)

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

di Cheng, Yurong, Schlosser, Pascal, Hertel, Johannes, Sekula, Peggy, Oefner, Peter J., Spiekerkoetter, Ute, Mielke, Johanna, Freitag, Daniel F., Schmidts, Miriam, Kronenberg, Florian, Eckardt, Kai-Uwe, Thiele, Ines, Li, Yong, Köttgen, Anna
Pubblicato in Nat Commun (2021)

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

di 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
Pubblicato in Front Genet (2021)

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

di Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M. H. F.
Pubblicato in Cilia (2018)

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

di Loges, Niki Tomas, Olbrich, Heike, Becker-Heck, Anita, Häffner, Karsten, Heer, Angelina, Reinhard, Christina, Schmidts, Miriam, Kispert, Andreas, Zariwala, Maimoona A., Leigh, Margaret W., Knowles, Michael R., Zentgraf, Hanswalter, Seithe, Horst, Nürnberg, Gudrun, Nürnberg, Peter, Reinhardt, Richard, Omran, Heymut
Pubblicazione 2009