Mohammed Aldahmesh

Mohammed Aldahmesh

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Mohammed Aldahmesh

Mohammed Aldahmesh

Publications by authors named "Mohammed Aldahmesh"

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Congenital glaucoma and CYP1B1: an old story revisited.

Hum Genet 2019 Sep 19;138(8-9):1043-1049. Epub 2018 Mar 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-018-1878-zDOI Listing
September 2019

Infantile Nephropathic Cystinosis: A Novel Mutation.

Eurasian J Med 2017 Jun;49(2):148-151

Department of Pediatrics, Atatürk University School of Medicine, Erzurum, Turkey.

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http://dx.doi.org/10.5152/eurasianjmed.2017.17039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469843PMC
June 2017

Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas.

J AAPOS 2016 08 29;20(4):370-2. Epub 2016 Jun 29.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jaapos.2016.03.017DOI Listing
August 2016

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).

Trans Am Ophthalmol Soc 2015 ;113:T7

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634221PMC
July 2016

Clinical Characterization of LRPAP1-Related Pediatric High Myopia.

Ophthalmology 2016 Feb 11;123(2):434-5. Epub 2015 Aug 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ophtha.2015.06.051DOI Listing
February 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.

Ophthalmic Genet 2015 Mar 3;36(1):8-13. Epub 2013 Sep 3.

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

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http://dx.doi.org/10.3109/13816810.2013.827217DOI Listing
March 2015

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

Ophthalmic Genet 2015 Mar 3;36(1):58-63. Epub 2014 Dec 3.

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

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http://dx.doi.org/10.3109/13816810.2014.985847DOI Listing
March 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Ophthalmic Genet 2014 Sep 14;35(3):130-7. Epub 2013 Jun 14.

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

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http://dx.doi.org/10.3109/13816810.2013.804097DOI Listing
September 2014

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.

Ophthalmic Genet 2014 Sep 14;35(3):187-9. Epub 2013 Jun 14.

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

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http://dx.doi.org/10.3109/13816810.2013.804096DOI Listing
September 2014

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.

J AAPOS 2013 Dec 7;17(6):643-5. Epub 2013 Nov 7.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2013.08.004DOI Listing
December 2013

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

Hum Mutat 2013 Sep 19;34(9):1195-9. Epub 2013 Jul 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/humu.22374
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http://dx.doi.org/10.1002/humu.22374DOI Listing
September 2013

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

J Med Genet 2013 Jul 25;50(7):425-30. Epub 2013 Apr 25.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101378DOI Listing
July 2013

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.

Ophthalmology 2013 May 31;120(5):956-60. Epub 2013 Jan 31.

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

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http://dx.doi.org/10.1016/j.ophtha.2012.10.032DOI Listing
May 2013

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Am J Hum Genet 2013 Mar 28;92(3):387-91. Epub 2013 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2013.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591839PMC
March 2013

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.

Am J Ophthalmol 2013 Feb 3;155(2):361-372.e7. Epub 2012 Nov 3.

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajo.2012.08.016DOI Listing
February 2013

Congenital glaucoma with acquired peripheral circumferential iris degeneration.

J AAPOS 2013 Feb 28;17(1):105-7. Epub 2013 Jan 28.

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

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http://dx.doi.org/10.1016/j.jaapos.2012.09.011DOI Listing
February 2013

Autozygosity mapping with exome sequence data.

Hum Mutat 2013 Jan 22;34(1):50-6. Epub 2012 Oct 22.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.22220DOI Listing
January 2013

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.

Ophthalmic Genet 2012 Dec 9;33(4):235-9. Epub 2012 Apr 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2012.666708DOI Listing
December 2012

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Genet Med 2012 Dec 30;14(12):955-62. Epub 2012 Aug 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/gim.2012.86DOI Listing
December 2012

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

J AAPOS 2012 Dec 14;16(6):571-2. Epub 2012 Nov 14.

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

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http://dx.doi.org/10.1016/j.jaapos.2012.07.007DOI Listing
December 2012

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Genet Med 2012 Nov 5;14(11):900-4. Epub 2012 Jul 5.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/gim.2012.71DOI Listing
November 2012

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

Ophthalmic Genet 2012 Jun 9;33(2):89-95. Epub 2012 Jan 9.

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

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http://dx.doi.org/10.3109/13816810.2011.634881DOI Listing
June 2012

The distinct ophthalmic phenotype of Knobloch syndrome in children.

Br J Ophthalmol 2012 Jun 7;96(6):890-5. Epub 2012 Mar 7.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

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http://dx.doi.org/10.1136/bjophthalmol-2011-301396DOI Listing
June 2012

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

Hum Mutat 2012 Jun 16;33(6):960-2. Epub 2012 Apr 16.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.22071DOI Listing
June 2012

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.

Br J Ophthalmol 2012 May 19;96(5):650-5. Epub 2012 Jan 19.

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

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http://dx.doi.org/10.1136/bjophthalmol-2011-301053DOI Listing
May 2012

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Mol Vis 2011 4;17:2570-9. Epub 2011 Oct 4.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198484PMC
February 2012

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Am J Hum Genet 2011 Dec 17;89(6):745-50. Epub 2011 Nov 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2011.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234380PMC
December 2011

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

Genet Med 2011 Nov;13(11):978-81

Department of Genetics, King Faisal Specialist Hospital and Research Center, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/GIM.0b013e31822623d5DOI Listing
November 2011

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Ophthalmic Genet 2011 Sep 9;32(3):138-42. Epub 2011 Feb 9.

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

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http://dx.doi.org/10.3109/13816810.2010.544365DOI Listing
September 2011

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

J Med Genet 2011 Sep;48(9):597-601

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2011-100306DOI Listing
September 2011

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.

Hum Mol Genet 2011 Apr 31;20(8):1625-32. Epub 2011 Jan 31.

Department of Biology, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063988PMC
April 2011

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

J AAPOS 2011 Apr;15(2):198-9

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

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http://dx.doi.org/10.1016/j.jaapos.2011.01.156DOI Listing
April 2011

Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Mol Vis 2011 Mar 11;17:708-14. Epub 2011 Mar 11.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060157PMC
March 2011

MeltMADGE for mutation scanning of specific genes in population studies.

Nat Protoc 2010 Nov 21;5(11):1800-12. Epub 2010 Oct 21.

Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

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http://www.nature.com/articles/nprot.2010.136
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http://dx.doi.org/10.1038/nprot.2010.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575632PMC
November 2010

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Arch Ophthalmol 2010 Mar;128(3):344-8

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh 11462, Saudi Arabia.

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http://dx.doi.org/10.1001/archophthalmol.2010.15DOI Listing
March 2010

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.

Mol Vis 2010 Feb 10;16:207-12. Epub 2010 Feb 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820108PMC
February 2010

Characterization of CTNS mutations in Arab patients with cystinosis.

Ophthalmic Genet 2009 Dec;30(4):185-9

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810903200953DOI Listing
December 2009

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Invest Ophthalmol Vis Sci 2009 Sep 15;50(9):4142-5. Epub 2009 Apr 15.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1167/iovs.08-3006DOI Listing
September 2009

Corneal decompensation in recessive cornea plana.

Ophthalmic Genet 2009 Sep;30(3):142-5

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

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http://dx.doi.org/10.1080/13816810902937084DOI Listing
September 2009

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Mol Vis 2009 Jul 24;15:1407-11. Epub 2009 Jul 24.

Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714775PMC
July 2009

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.

Ophthalmology 2008 Apr;115(4):730-3

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

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http://dx.doi.org/10.1016/j.ophtha.2007.04.064DOI Listing
April 2008

Recessive cornea plana in the Kingdom of Saudi Arabia.

Ophthalmology 2006 Oct;113(10):1773-8

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

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http://dx.doi.org/10.1016/j.ophtha.2006.04.026DOI Listing
October 2006

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.

Ophthalmic Genet 2006 Sep;27(3):79-82

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

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http://dx.doi.org/10.1080/13816810600862501DOI Listing
September 2006

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana.

Ophthalmic Genet 2006 Sep;27(3):99-101

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

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http://dx.doi.org/10.1080/13816810600862469DOI Listing
September 2006