Search Results - "Bolz, H. J."

Extension of the clinical and molecular phenotype of DIAPH1‐associated autosomal dominant hearing loss (DFNA1) by Neuhaus, C., Lang‐Roth, R., Zimmermann, U., Heller, R., Eisenberger, T., Weikert, M., Markus, S., Knipper, M., Bolz, H.J.

“…In about 20% of non‐syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We…”
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Genome‐wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1‐related fundus phenotype by Khan, A.O., Budde, B.S., Nürnberg, P., Kawalia, A., Lenzner, S., Bolz, H.J.

“…To uncover the genotype underlying early‐onset cone‐rod dystrophy and central nummular macular atrophic lesion in 2 siblings from an endogamous Arab family, we…”
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Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene by Charbel Issa, P, Bolz, H J, Ebermann, I, Domeier, E, Holz, F G, Scholl, H P N

“…To characterise the ocular phenotype of a family segregating the splice site mutation c.2189+1G>T in the tyrosine kinase receptor gene MERTK. Five affected…”
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GPR98 mutations cause Usher syndrome type 2 in males by Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Löwenheim, H, Koenekoop, R K, Bolz, H J

“…Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98…”
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Next-Generation Sequencing: A Quantum Leap in Ophthalmology Research and Diagnostics by Bolz, H J

“…Many eye diseases have a genetic basis, and most can be caused by mutations in many different genes (extensive genetic heterogeneity). The retinal dystrophies…”
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Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula by Khan, A. O., Tamimi, M., Lenzner, S., Bolz, H. J.

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Segregation Analysis in Inherited Eye Disorders: An Academic Add-on or An Essential Effort? by Preising, M N, Bolz, H J

“…The knowledge of the genetic basis of many eye diseases is constantly increasing. Besides retinal degeneration, developmental defects of the anterior segment,…”
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Genotype-Phenotype Correlations in Patients with CRB1 Mutations by Papadopoulou Laiou, C, Preising, M N, Bolz, H J, Lorenz, B

“…Mutations in the gene were identified in patients with early-onset severe retinal dystrophy (EOSRD), childhood-onset and juvenile-onset rod-cone dystrophy…”
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Genetic diagnostics of retinal dystrophies : Breakthrough with new methods of DNA sequencing by Bolz, H J

“…Until the mid-2000s, knowledge about the genetic causes of retinal dystrophies was not adequately translated into molecular diagnostics and genetic counselling…”
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Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome by Ebermann, I, Elsayed, S M, Abdel-Ghaffar, T Y, Nürnberg, G, Nürnberg, P, Elsobky, E, Bolz, H J

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Genetics of congenital aniridia by Neuhaus, C, Betz, C, Bergmann, C, Bolz, H J

“…Mutations in the PAX6 gene mostly cause non-syndromic aniridia with autosomal dominant inheritance and familial occurrence. The underlying point mutations and…”
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Genetische Diagnostik von Netzhautdystrophien: Revolutionierung durch neue Methoden der DNA-Sequenzierung by Bolz, H. J.

“…Zusammenfassung Bis Mitte der 2000er-Jahre konnte Patienten mit Netzhautdystrophien nur in sehr eingeschränktem Maße eine molekulargenetische Diagnostik zur…”
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Genetics of Usher syndrome by Bolz, H J

“…Since the first gene (MYO7A) for Usher syndrome was identified 14 years ago, there has been substantial progress in the elucidation of the genetic basis of…”
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Cystic disease, ciliopathy and mitochondral cytopathies by Frank, V., Decker, E., Eisenberger, T., Decker, C., Bolz, H. J., Bergmann, C., Gigante, M., Bruno, F., Diella, S., Infante, B., Ranieri, E., Stallone, G., Grandaliano, G., Gesualdo, L.

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Cystic kidney diseases by Jankowska, M., Walerzak, A., Debska-Slizien, A., Rutkowski, B., Frank, V., Decker, E., Bachmann, N., Eisenberger, T., Decker, C., Bolz, H. J., Bergmann, C., Kurt, B., Paliege, A., Willam, C., Schwarzensteiner, I., Schucht, K., Neymeyer, H., Sequeira-Lopez, M. L. S., Bachmann, S., Gomez, R. A., Eckardt, K.-U., Kurtz, A., Bissler, J. J., Zonnenberg, B., Frost, M., Radzikowska, E., Sauter, M., Nonomura, N., de Vries, P., Lam, D., Miao, S., Cauwel, H., Kingswood, J. C.

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DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEURO-HEPATOPATHY SYNDROME by EBERMANN, I, ELSAYED, S. M, ABDEL-GHAFFAR, T. Y, NÜRNBERG, G, NÜRNBERG, P, ELSOBKY, E, BOLZ, H. J

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Genetic diseases and molecular genetics by Legendre, C., Cohen, D., Delmas, Y., Feldkamp, T., Fouque, D., Furman, R., Gaber, O., Greenbaum, L., Goodship, T., Haller, H., Herthelius, M., Hourmant, M., Licht, C., Moulin, B., Sheerin, N., Trivelli, A., Bedrosian, C. L., Loirat, C., Babu, S., Jungraithmayr, T., Lebranchu, Y., Riedl, M., Gaber, A. O., Bedrosian, C., Muus, P., Douglas, K., Remuzzi, G., Kourouklaris, A., Ioannou, K., Athanasiou, I., Demetriou, K., Panagidou, A., Zavros, M., Rodriguez C, N. Y., Blasco, M., Arcal, C., Quintana, L. F., Rodriguez de Cordoba, S., Campistol, J. M., Bachmann, N., Eisenberger, T., Decker, C., Bolz, H. J., Bergmann, C., Pesce, F., Cox, S. N., Serino, G., De Palma, G., Sallustio, F. P., Schena, F., Falchi, M., Pieri, M., Stefanou, C., Zaravinos, A., Erguler, K., Lapathitis, G., Dweep, H., Sticht, C., Anastasiadou, N., Zouvani, I., Voskarides, K., Gretz, N., Deltas, C. C., Ruiz, A., Bonny, O., Sallustio, F., Curci, C., Cox, S., Kemter, E., Sklenak, S., Aigner, B., Wanke, R., Kitzler, T. M., Moskowitz, J. L., Piret, S. E., Lhotta, K., Tashman, A., Velez, E., Thakker, R. V., Kotanko, P., Leierer, J., Rudnicki, M., Perco, P., Koppelstaetter, C., Mayer, G., Sa, M. J. N., Alves, S., Storey, H., Flinter, F., Willems, P. J., Carvalho, F., Oliveira, J., Arsali, M., Papazachariou, L., Demosthenous, P., Lazarou, A., Hadjigavriel, M., Stavrou, C., Yioukkas, L., Deltas, C.

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Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts by Ahmad, Adeel, Daud, Shakeela, Kakar, Naseebullah, Nürnberg, Gudrun, Nürnberg, Peter, Babar, Masroor Ellahi, Thoenes, Michaela, Kubisch, Christian, Ahmad, Jamil, Bolz, Hanno Jörn

“…To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. The diagnosis was established in…”
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Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin by Aller, Elena, Jaijo, Teresa, van Wijk, Erwin, Ebermann, Inga, Kersten, Ferry, García-García, Gema, Voesenek, Krysta, Aparisi, María José, Hoefsloot, Lies, Cremers, Cor, Díaz-Llopis, Manuel, Pennings, Ronald, Bolz, Hanno J, Kremer, Hannie, Millán, José M

“…It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss…”
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Genetik der kongenitalen Aniridie by Neuhaus, C., Betz, C., Bergmann, C., Bolz, H.J.

“…Zusammenfassung Hintergrund PAX6 -Mutationen führen beim Menschen überwiegend zu nicht-syndromaler Aniridie, die autosomal-dominant vererbt wird und meist…”
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