Search Results - Hoefele, Julia

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  1. 1
    BK virus induced nephritis in a boy with acute myeloid leukaemia undergoing bone marrow transplantation

    BK virus induced nephritis in a boy with acute myeloid leukaemia undergoing bone marrow transplantation by Hoefele, Julia, Rüssmann, Despina, Klein, Barbara, Weber, Lutz T., Führer, Monika

    Published 2008
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  2. 2
    MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34

    MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 by Westphal, Dominik S., Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia

    Published 2018
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  3. 3
    No Impact of the Analytical Method Used for Determining Cystatin C on Estimating Glomerular Filtration Rate in Children

    No Impact of the Analytical Method Used for Determining Cystatin C on Estimating Glomerular Filtration Rate in Children by Alberer, Martin, Hoefele, Julia, Benz, Marcus R., Bökenkamp, Arend, Weber, Lutz T.

    Published 2017
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  4. 4
    Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

    Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion by Hoefele, Julia, Nayir, Ahmet, Imm, Anita, Allen, Susan J., Otto, Edgar A., Hildebrandt, Friedhelm

    Published 2011
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  5. 5
    Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

    Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature by Hainz, Daniela, Krüger, Marcus, Reber, Daniela, Mehnert, Karl, Brunet, Theresa, Lederer, Gabriele, Langer-Freitag, Sabine, Hoefele, Julia

    Published 2021
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  6. 6
    Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

    Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... by Riedhammer, Korbinian Maria, Siegel, Corinna, Alhaddad, Bader, Montoya, Carmen, Kovacs-Nagy, Reka, Wagner, Matias, Meitinger, Thomas, Hoefele, Julia

    Published 2017
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  7. 7
    Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

    Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies by Chaki, Moumita, Hoefele, Julia, Allen, Susan J., Ramaswami, Gokul, Janssen, Sabine, Bergmann, Carsten, Heckenlively, John R., Otto, Edgar A., Hildebrandt, Friedhelm

    Published 2011
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  8. 8
    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

    The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome by Macheroux, Eva Pauline, Braunisch, Matthias C., Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M., Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia

    Published 2019
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  9. 9
    Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus

    Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus by Vossschulte, Hendrik, Mohnike, Konrad, Mohnike, Klaus, Warncke, Katharina, Akcay, Ayse, Zenker, Martin, Wieland, Ilse, Schanze, Ina, Hoefele, Julia, Förster, Christine, Barthlen, Winfried, Stahlberg, Kim, Empting, Susann

    Published 2022
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  10. 10
    Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24

    Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 by Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm

    Published 2010
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  11. 11
    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis by Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O., Günther, Barbara, Airik, Rannar, Innis, Jeffrey W., Hoskins, Bethan E., Hoefele, Julia, Otto, Edgar A., Hildebrandt, Friedhelm

    Published 2011
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  12. 12
    Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36

    Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 by Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., Ala-Mello, Sirpa, Hoefele, Julia, Wiedensohler, Alexander, Haller, Maria, Omran, Heymut, Nürnberg, Peter, Hildebrandt, Friedhelm

    Published 2002
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  13. 13
    A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

    A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution by Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm

    Published 2002
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  14. 14
    Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

    Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis by Braunisch, Matthias C., Büttner-Herold, Maike, Günthner, Roman, Satanovskij, Robin, Riedhammer, Korbinian M., Herr, Pierre-Maurice, Klein, Hanns-Georg, Wahl, Dagmar, Küchle, Claudius, Renders, Lutz, Heemann, Uwe, Schmaderer, Christoph, Hoefele, Julia

    Published 2018
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  15. 15
    Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

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

    Published 2021
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  16. 16
    Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

    Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS by Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

    Published 2020
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  17. 17
    Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

    Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes by Breuer, Katinka, Riedhammer, Korbinian M., Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M. M., Westphal, Dominik S., Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C., Hoefele, Julia

    Published 2022
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  18. 18
    Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

    Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 by Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou

    Published 2020
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  19. 19
    Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

    Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease by Bergmann, Carsten, von Bothmer, Jennifer, Ortiz Brüchle, Nadina, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antónia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard, Zerres, Klaus

    Published 2011
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  20. 20
    Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

    Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination by Otto, Edgar A, Schermer, Bernhard, Obara, Tomoko, O'Toole, John F, Hiller, Karl S, Mueller, Adelheid M, Ruf, Rainer G, Hoefele, Julia, Beekmann, Frank, Landau, Daniel, Foreman, John W, Goodship, Judith A, Strachan, Tom, Kispert, Andreas, Wolf, Matthias T, Gagnadoux, Marie F, Nivet, Hubert, Antignac, Corinne, Walz, Gerd, Drummond, Iain A, Benzing, Thomas, Hildebrandt, Friedhelm

    Published 2003
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