Bolz, Hanno J: search on Z-Library

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1

Genetic testing in patients with retinitis pigmentosa: features of unsolved cases

Birtel, Johannes, Gliem, Martin, Oishi, Akio, Müller, Philipp L, Herrmann, Philipp, Holz, Frank G, Mangold, Elisabeth, Knapp, Michael, Bolz, Hanno J, Charbel Issa, Peter

Journal:

Clinical & Experimental Ophthalmology

Year:

2019

File:

PDF, 1.64 MB

2019

2

Targeted next-generation sequencing identifies a homozygous nonsense mutation inABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 595 KB

english, 2012

3

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

Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 324 KB

english, 2014

4

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

Inga Ebermann, Martin Walger, Hendrik P.N. Scholl, Peter Charbel Issa, Christoph Lüke, Gudrun Nürnberg, Ruth Lang-Roth, Christian Becker, Peter Nürnberg, Hanno J. Bolz

Journal:

Year:

2007

Language:

english

File:

PDF, 424 KB

english, 2007

5

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

Khan, Arif O., Decker, Eva, Bachmann, Nadine, Bolz, Hanno J., Bergmann, Carsten

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 719 KB

english, 2016

6

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.

Journal:

Frontiers in Genetics

Year:

2017

Language:

english

File:

PDF, 900 KB

english, 2017

7

Mutations inWDR19encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

Fehrenbach, Henry, Decker, Christian, Eisenberger, Tobias, Frank, Valeska, Hampel, Tobias, Walden, Ulrike, Amann, Kerstin U., Krüger-Stollfuß, Ingrid, Bolz, Hanno J., Häffner, Karsten, Pohl, Martin, B

Journal:

Pediatric Nephrology

Year:

2014

Language:

english

File:

PDF, 632 KB

english, 2014

8

Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy

Khan, Arif O., Bolz, Hanno J., Bergmann, Carsten

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

9

Hereditary Hearing Loss and Its Syndromes Third Edition

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

10

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

Margarita Stefanova, Peter Meinecke, Andreas Gal, Hanno Bolz

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 223 KB

english, 2005

11

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Khan, Arif O., Bifari, Inam N., Bolz, Hanno J.

Journal:

Year:

2015

Language:

english

File:

PDF, 486 KB

english, 2015

12

Herausforderungen und Fallstricken zum Trotz: Wie die Ophthalmologie von Next-Generation Sequencing profitiert

Journal:

Klinische Monatsblätter für Augenheilkunde

Year:

2018

Language:

german

File:

PDF, 243 KB

german, 2018

13

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Inga Ebermann, Hendrik P. N. Scholl, Peter Charbel Issa, Elvir Becirovic, Jürgen Lamprecht, Bernhard Jurklies, José M. Millán, Elena Aller, Diana Mitter, Hanno Bolz

Journal:

Year:

2007

Language:

english

File:

PDF, 518 KB

english, 2007

14

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

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 204 KB

english, 2018

15

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride, Müller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent, To

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

16

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)

Hanno Bolz, Steffen-Sebastian Bolz, Götz Schade, Christian Kothe, Gerrit Mohrmann, Markus Hess, Andreas Gal

Journal:

Year:

2004

Language:

english

File:

PDF, 1.66 MB

english, 2004

17

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family

Hanno Bolz, Alfredo Ramı́rez, Benigna von Brederlow, Christian Kubisch

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2001

Language:

english

File:

PDF, 389 KB

english, 2001

18

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing

Elvir Becirovic, Inga Ebermann, Ditta Nagy, Eberhart Zrenner, Mathias Wolfgang Seeliger, Hanno Jörn Bolz

Journal:

Year:

2008

Language:

english

File:

PDF, 235 KB

english, 2008

19

Extension of the clinical and molecular phenotype of DIAPH1 -associated autosomal dominant hearing loss ( DFNA1 )

Neuhaus, Christine, Lang-Roth, Ruth, Zimmermann, Ulrike, Heller, Raoul, Eisenberger, Tobias, Weikert, Matthias, Markus, Susanne, Knipper, Marlies, Bolz, Hanno J.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 2.08 MB

english, 2016

20

NGS: Gestern, heute und morgen; NGS: Past, present and future;

Bolz, Hanno J., Hoischen, Alexander

Journal:

medizinische genetik

Year:

2019

Language:

german

File:

PDF, 1.54 MB

german, 2019

21

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

Ebermann, Inga, Koenekoop, Robert K, Lopez, Irma, Bou-Khzam, Lara, Pigeon, Renée, Bolz, Hanno J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

22

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Horn, Denise, Chyrek, Magdalena, Kleier, Saskia, Lüttgen, Sabine, Bolz, Hanno, Hinkel, Georg-Klaus, Korenke, Georg Christoph, Rieß, Angelika, Schell-Apacik, Can, Tinschert, Sigrid

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 157 KB

english, 2005

23

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6

Hanno Bolz, Götz Schade, Stefanie Ehmer, Christian Kothe, Markus Hess, Andreas Gal

Journal:

Hearing Research

Year:

2004

Language:

english

File:

PDF, 273 KB

english, 2004

24

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A , the “ DFNA48 Gene”, as a Cause of Deafness

Eisenberger, Tobias, Di Donato, Nataliya, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Mürbe, Dirk, Decker, Christian, Bergmann, Carsten, Bolz, Hanno J.

Journal:

Year:

2014

Language:

english

File:

PDF, 411 KB

english, 2014

25

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

Birte Tröger, Kerstin Kutsche, Hanno Bolz, Sabine Lüttgen, Andreas Gal, Zsuzsanna Almassy, Almuth Caliebe, Peter Freisinger, Elke Hobbiebrunken, Michel Morlot, Margarita Stefanova, Berthold Streubel,

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

26

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Müller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J., Charbel Issa, Peter

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

27

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+channels

Jörg Striessnig, Hanno Jörn Bolz, Alexandra Koschak

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2010

Language:

english

File:

PDF, 724 KB

english, 2010

28

Biophysical Properties of a Human Disease-Causing Mutation in CaV1.3 L-Type Calcium Channels

Lieb, Andreas, Baig, Shahid M., Gebhart, Mathias, Dafinger, Claudia, Engel, Jutta, Sinnegger-Brauns, Martina J., Mangoni, Matteo E., Khan, Habib U., Nürnberg, Peter, Bolz, Hanno J., Koschak, Alexandra

Journal:

Biophysical Journal

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

29

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation

Khan, Arif O., Bolz, Hanno J., Bergmann, Carsten

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2014

Language:

english

File:

PDF, 516 KB

english, 2014

30

Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards

Vogl, Ina, Eck, Sebastian H., Benet-Pagès, Anna, Greif, Philipp A., Hirv, Kaimo, Kotschote, Stefan, Kuhn, Marius, Gehring, Andrea, Bergmann, Carsten, Bolz, Hanno Jörn, Stuhrmann, Manfred, Biskup, Sask

Journal:

Laboratoriums Medizin

Year:

2012

File:

PDF, 643 KB

2012

31

Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient

Solaf M. Elsayed, Neveen S. Seifeldeen, Hanno Bolz

Journal:

Egyptian Journal of Medical Human Genetics

Year:

2011

Language:

english

File:

PDF, 664 KB

english, 2011

32

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 2.77 MB

english, 2017

33

Olfactory Dysfunction in Patients With CNGB1 -Associated Retinitis Pigmentosa

Charbel Issa, Peter, Reuter, Peggy, Kühlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine L., Bolz, Hanno J., Ishihara, Kenji, MacLaren, Robert E., Downes, Susan M.

Journal:

JAMA Ophthalmology

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

34

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Gliem, Martin, Müller, Philipp L., Mangold, Elisabeth, Holz, Frank G., Bolz, Hanno J., Stöhr, Heidi, Weber, Bernhard H. F., Charbel Issa, Peter

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

File:

PDF, 2.50 MB

2015

35

Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

Busch, Jutta, Frank, Valeska, Bachmann, Nadine, Otsuka, Atoshi, Oji, Vinzenz, Metze, Dieter, Shah, Krati, Danda, Sumita, Watzer, Bernhard, Traupe, Heiko, Bolz, Hanno J, Kabashima, Kenji, Bergmann, Car

Journal:

The Journal of Investigative Dermatology

Year:

2012

Language:

english

File:

PDF, 4.14 MB

english, 2012

36

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1 -related fundus phenotype

Khan, Arif O., Budde, Birgit S., Nürnberg, Peter, Kawalia, Amit, Lenzner, Steffen, Bolz, Hanno J.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

37

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

Christel Vaché, Thomas Besnard, Pauline le Berre, Gema García-García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Hanno Jörn Bolz, Jose Millan, Christian Hamel, Sue Malcolm, Mireill

Journal:

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

38

Clinical utility gene card for: Usher syndrome

Bolz, Hanno J, Roux, Anne-Françoise

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 185 KB

english, 2011

39

Update of a classic

Journal:

European Journal of Human Genetics

Year:

2019

File:

PDF, 207 KB

2019

40

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 595 KB

english, 2014

41

Novel mutation in the glycoprotein Ibβ in a patient with Bernard–Soulier syndrome

Mahfouz, Rami A., Bolz, Hanno J., Otrock, Zaher K., Bergmann, Carsten, Muwakkit, Samar

Journal:

Blood Coagulation & Fibrinolysis

Year:

2012

Language:

english

File:

PDF, 99 KB

english, 2012

42

A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4 -related familial exudative vitreoretinopathy

Khan, Arif O., Lenzner, Steffen, Bolz, Hanno J.

Journal:

Ophthalmic Genetics

Year:

2016

Language:

english

File:

PDF, 647 KB

english, 2016

43

Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations

Khan, Arif O., Bolz, Hanno J.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 583 KB

english, 2015

44

The ophthalmic phenotype of IFT140 -related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

Bifari, Inam N, Elkhamary, Sahar M, Bolz, Hanno J, Khan, Arif O

Journal:

British Journal of Ophthalmology

Year:

2016

Language:

english

File:

PDF, 551 KB

english, 2016

45

10.1038/83667

Gal, Andreas, Bolz, Hanno, von Brederlow, Benigna, Ramírez, Alfredo, Bryda, Elizabeth C., Kutsche, Kerstin, Nothwang, Hans Gerd, Seeliger, Mathias, Cabrera, Maria del C.-Salcedó, Vila, Manuel Caballer

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 420 KB

english, 2001

46

First Cases of Dominant Optic Atrophy in Saudi Arabia

Galvez-Ruiz, Alberto, Neuhaus, Christine, Bergmann, Carsten, Bolz, Hanno

Journal:

Journal of Neuro-Ophthalmology

Year:

2013

Language:

english

File:

PDF, 275 KB

english, 2013

47

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

Müller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G.,

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 925 KB

english, 2015

48

Tectonic gene mutations in patients with Joubert syndrome

Huppke, Peter, Wegener, Eike, Böhrer-Rabel, Helena, Bolz, Hanno J, Zoll, Barbara, Gärtner, Jutta, Bergmann, Carsten

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 834 KB

english, 2015

49

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

Benigna von Brederlow, Hanno Bolz, Andreas Janecke, Alicia La O Cabrera, Günther Rudolph, Birgit Lorenz, Eberhard Schwinger, Andreas Gal

Journal:

Year:

2002

Language:

english

File:

PDF, 307 KB

english, 2002

50

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

Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno Jörn Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 758 KB

english, 2011

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