Hanno J Bolz

Hanno J Bolz

UNVERIFIED PROFILE

Are you Hanno J Bolz?   Register this Author

Register author
Hanno J Bolz

Hanno J Bolz

Publications by authors named "Hanno J Bolz"

Are you Hanno J Bolz?   Register this Author

55Publications

1400Reads

36Profile Views

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

Authors:
Hanno J Bolz

Eur J Hum Genet 2018 07 25;26(7):930. Epub 2018 May 25.

Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41431-018-0162-y
Publisher Site
http://dx.doi.org/10.1038/s41431-018-0162-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018714PMC
July 2018

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

Ophthalmic Genet 2017 Jul-Aug;38(4):380-382. Epub 2016 Sep 26.

b Center for Human Genetics , Bioscientia , Ingelheim , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2016.1217551DOI Listing
December 2017

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

Ophthalmic Genet 2016 09 8;37(3):290-3. Epub 2016 Feb 8.

c Center for Human Genetics, Bioscientia , Ingelheim , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1066830DOI Listing
September 2016

Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).

Ophthalmic Genet 2016 09 17;37(3):301-6. Epub 2016 Feb 17.

b Division of Pediatric Ophthalmology , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1071411DOI Listing
September 2016

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

Ophthalmic Genet 2015 18;36(4):349-52. Epub 2014 Feb 18.

b Center of Human Genetics , Bioscientia , Ingelheim , Germany , and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2014.886266DOI Listing
July 2016

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

Br J Ophthalmol 2016 06 10;100(6):829-33. Epub 2015 Sep 10.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2015-307555DOI Listing
June 2016

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.

Br J Ophthalmol 2016 Feb 10;100(2):209-15. Epub 2015 Jun 10.

Center for Human Genetics, Bioscientia, Ingelheim, Germany Institute of Human Genetics, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2015-3068
Publisher Site
http://dx.doi.org/10.1136/bjophthalmol-2015-306844DOI Listing
February 2016

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

Br J Ophthalmol 2015 Dec 20;99(12):1725-31. Epub 2015 Aug 20.

Bioscientia Center for Human Genetics, Ingelheim, Germany Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2015-307277DOI Listing
December 2015

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

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8179-86

Department of Ophthalmology, University of Bonn, Bonn, Germany 2Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.15-17629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110240PMC
December 2015

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.

Ophthalmology 2015 Aug 10;122(8):1726-7.e2. Epub 2015 Apr 10.

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2015.03.001DOI Listing
August 2015

Reticular Pseudodrusen in Sorsby Fundus Dystrophy.

Ophthalmology 2015 Aug 12;122(8):1555-62. Epub 2015 Jun 12.

Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2015.04.035DOI Listing
August 2015

The challenge of defining pathogenicity: the example of AHI1.

Genet Med 2015 Jun;17(6):508

1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2015.46DOI Listing
June 2015

Tectonic gene mutations in patients with Joubert syndrome.

Eur J Hum Genet 2015 May 13;23(5):616-20. Epub 2014 Aug 13.

1] Center for Human Genetics Bioscientia, Ingelheim, Germany [2] Department of Nephrology & Center for Clinical Research, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402635PMC
May 2015

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.

Br J Ophthalmol 2015 Apr 23;99(4):488-92. Epub 2014 Oct 23.

Bioscientia Center for Human Genetics, Ingelheim, Germany Renal Division, Department of Medicine, University Medical Center Freiburg, Freiburg, Germany Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2014-305836DOI Listing
April 2015

A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Ophthalmic Genet 2015 Mar 5;36(1):79-84. Epub 2014 Dec 5.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2014.985846DOI Listing
March 2015

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Br J Ophthalmol 2014 Dec 4;98(12):1724-8. Epub 2014 Jul 4.

Bioscientia Center for Human Genetics, Ingelheim, Germany Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

View Article

Download full-text PDF

Source
http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2014-3051
Publisher Site
http://dx.doi.org/10.1136/bjophthalmol-2014-305122DOI Listing
December 2014

Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").

J Pediatr Ophthalmol Strabismus 2014 Jul 16;51 Online:e51-4. Epub 2014 Jul 16.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/01913913-20140709-04DOI Listing
July 2014

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

J AAPOS 2014 Apr;18(2):134-9

Center of Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2013.11.012DOI Listing
April 2014

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

J AAPOS 2014 Apr;18(2):203-5

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology & Center for Clinical Research, University Hospital Freiburg, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10918531140006
Publisher Site
http://dx.doi.org/10.1016/j.jaapos.2013.11.016DOI Listing
April 2014

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

Eur J Hum Genet 2014 Feb 10;22(2):286-8. Epub 2013 Jul 10.

1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895650PMC
February 2014

The RPGRIP1-related retinal phenotype in children.

Br J Ophthalmol 2013 Jun 16;97(6):760-4. Epub 2013 Mar 16.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjophthalmol-2012-303050DOI Listing
June 2013

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Am J Med Genet A 2013 Jun 30;161A(6):1394-400. Epub 2013 Apr 30.

Department of Obstetrics and Gynecology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35874DOI Listing
June 2013

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

J Invest Dermatol 2012 Oct 14;132(10):2473-2476. Epub 2012 Jun 14.

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, RWTH Aachen University, Aachen, Germany; Center for Clinical Research, University Hospital Freiburg, Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2012.146DOI Listing
October 2012

Clinical utility gene card for: Usher syndrome.

Eur J Hum Genet 2011 Aug 9;19(8). Epub 2011 Mar 9.

Bioscientia Center for Human Genetics, Ingelheim, Germany.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ejhg.2011.15
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172919PMC
August 2011

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

Nat Neurosci 2011 Jan 5;14(1):77-84. Epub 2010 Dec 5.

Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nn.2694DOI Listing
January 2011