Search Results - "BOLZ, Hanno" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

by Becker, Jutta, Semler, Oliver, Gilissen, Christian, Li, Yun, Bolz, Hanno Jörn, Giunta, Cecilia, Bergmann, Carsten, Rohrbach, Marianne, Koerber, Friederike, Zimmermann, Katharina, de Vries, Petra, Wirth, Brunhilde, Schoenau, Eckhard, Wollnik, Bernd, Veltman, Joris A., Hoischen, Alexander, Netzer, Christian
Published in American journal of human genetics (11.03.2011)

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Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

by Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Müller, Philipp L, Holz, Frank G, Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J, Charbel Issa, Peter
Published in PloS one (13.12.2018)

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An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease

by Eisenberger, Tobias, Decker, Christian, Hiersche, Milan, Hamann, Ruben C, Decker, Eva, Neuber, Steffen, Frank, Valeska, Bolz, Hanno J, Fehrenbach, Henry, Pape, Lars, Toenshoff, Burkhard, Mache, Christoph, Latta, Kay, Bergmann, Carsten
Published in PloS one (03.02.2015)

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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

by Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno Jörn
Published in Orphanet journal of rare diseases (23.01.2014)

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Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective

Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective

by Bolz, Hanno Jörn
Published in Klinische Monatsblatter fur Augenheilkunde (01.03.2021)

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Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al

Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al

by Bolz, Hanno J
Published in European journal of human genetics : EJHG (01.07.2018)

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

by Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Müller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J., Charbel Issa, Peter
Published in Scientific reports (19.03.2018)

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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa

by Linder, Bastian, Hirmer, Anja, Gal, Andreas, Rüther, Klaus, Bolz, Hanno Jörn, Winkler, Christoph, Laggerbauer, Bernhard, Fischer, Utz
Published in PloS one (10.11.2014)

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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

by Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
Published in Orphanet journal of rare diseases (02.09.2012)

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

by Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J
Published in The Journal of clinical investigation (01.06.2010)

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The Bardet-Biedl Syndrome - Diagnosis and Follow-up

The Bardet-Biedl Syndrome - Diagnosis and Follow-up

by Rohrschneider, Klaus, Bolz, Hanno Jörn
Published in Klinische Monatsblatter fur Augenheilkunde (01.03.2020)

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Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness

Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness

by Striessnig, Jörg, Bolz, Hanno J, Baig, Shahid M, Koschak, Alexandra, Lieb, Andreas, Gebhart, Mathias, Dafinger, Claudia, Nürnberg, Gudrun, Ali, Amjad, Ahmad, Ilyas, Sinnegger-Brauns, Martina J, Brandt, Niels, Engel, Jutta, Mangoni, Matteo E, Farooq, Muhammad, Khan, Habib U, Nürnberg, Peter
Published in Nature neuroscience (01.01.2011)

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Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

by Gliem, Martin, MD, Müller, Philipp L., MD, Mangold, Elisabeth, MD, Bolz, Hanno J., MD, Stöhr, Heidi, PhD, Weber, Bernhard H.F., PhD, Holz, Frank G., MD, Charbel Issa, Peter, MD, DPhil
Published in Ophthalmology (Rochester, Minn.) (01.08.2015)

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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

by Vaché, Christel, Besnard, Thomas, le Berre, Pauline, García-García, Gema, Baux, David, Larrieu, Lise, Abadie, Caroline, Blanchet, Catherine, Bolz, Hanno Jörn, Millan, Jose, Hamel, Christian, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Published in Human mutation (01.01.2012)

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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

by Abdel-Salam, Ghada M H, Abdel-Hamid, Mohamed S, Sayed, Inas S M, Zechner, Ulrich, Bolz, Hanno Jörn
Published in Journal of human genetics (01.01.2022)

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Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

by Khan, Arif O., MD, Bifari, Inam N., MD, Bolz, Hanno J., MD
Published in Ophthalmology (Rochester, Minn.) (01.08.2015)

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Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

by Baig, Shahid M, Koschak, Alexandra, Lieb, Andreas, Gebhart, Mathias, Dafinger, Claudia, Nürnberg, Gudrun, Ali, Amjad, Ahmad, Ilyas, Sinnegger-Brauns, Martina J, Brandt, Niels, Engel, Jutta, Mangoni, Matteo E, Farooq, Muhammad, Khan, Habib U, Nürnberg, Peter, Striessnig, Jörg, Bolz, Hanno J
Published in Nature neuroscience (01.01.2011)

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Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing

Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing

by Bolz, Hanno Jörn
Published in Klinische Monatsblatter fur Augenheilkunde (01.03.2018)

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The tectonic complex regulates membrane protein composition in the photoreceptor cilium

The tectonic complex regulates membrane protein composition in the photoreceptor cilium

by Truong, Hanh M., Cruz-Colón, Kevin O., Martínez-Márquez, Jorge Y., Willer, Jason R., Travis, Amanda M., Biswas, Sondip K., Lo, Woo-Kuen, Bolz, Hanno J., Pearring, Jillian N.
Published in Nature communications (13.09.2023)

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C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

by Khan, Arif O, Eisenberger, Tobias, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Bolz, Hanno J
Published in British journal of ophthalmology (01.12.2015)

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