Aldahmesh, Mohammed A: search on Z-Library

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1

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M., Patel, Nisha, Shamseldin, Hanan E., Anazi, Shamsa, Al-Dosari, Mohammed S., Alzahrani, Fatema, Hijazi, Hadia, Alshammari, Muneera, Aldahmesh, Mohammed A., Salih, Mustafa A., Faqeih, E

Journal:

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

2

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Mohamed A. Aldahmesh, Leen Abu-Safieh, Arif O. Khan, Zuhair N. Al-Hassnan, Ranad Shaheen, Mohammed Rajab, Dorota Monies, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

3

The distinct ophthalmic phenotype of Knobloch syndrome in children

Khan, A. O., Aldahmesh, M. A., Mohamed, J. Y., Al-Mesfer, S., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 600 KB

english, 2012

4

Corneal Decompensation in Recessive Cornea Plana

Khan, Arif O., Aldahmesh, Mohammed A., Al-Gehedan, Saeed, Meyer, Brain F., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 446 KB

english, 2009

5

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Shtir, Corina, Aldahmesh, Mohammed A., Al-Dahmash, Saad, Abboud, Emad, Alkuraya, Hisham, Abouammoh, Marwan A., Nowailaty, Sawsan R., Al-Thubaiti, Ghazai, Naim, E. A., ALYounes, B., Binhumaid, F. S., A

Journal:

Year:

2016

Language:

english

File:

PDF, 558 KB

english, 2016

6

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

Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Hijazi, Hadia, Al-Owain, Mohammed, Alswaid, Abdulrahman, Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

7

Phenotype–genotype correlation in clinically diagnosed recessive cornea plana

Arif O. Khan, Mohammed A. Aldahmesh, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 41 KB

english, 2012

8

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

Aldahmesh, Mohammed A., Khan, Arif O., Mohamed, Jawahir, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 737 KB

english, 2011

9

Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature

Khan, Arif O., Alam, Syed K., Aldahmesh, Mohammed, Rajab, Mohammed, Meyer, Brian

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 342 KB

english, 2006

10

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

Aldahmesh, M. A., Khan, A. O., Mohamed, J. Y., Alkuraya, H., Ahmed, H., Bobis, S., Al-Mesfer, S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

11

A novel mutation in PRDM5 in brittle cornea syndrome

MA Aldahmesh, JY Mohamed, FS Alkuraya

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 574 KB

english, 2012

12

Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Abu-Safieh, Leen, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 577 KB

english, 2014

13

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Aldahmesh, Mohammed A., Khan, Arif O., Meyer, Brian F., Alkuraya, Fowzan S.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 186 KB

english, 2009

14

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

Khan, Arif O., Aldahmesh, Mohammed A., Al-Ghadeer, Huda, Mohamed, Jawaher Y., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 813 KB

english, 2012

15

MeltMADGE for mutation scanning of specific genes in population studies

Alharbi, Khalid K, Aldahmesh, Mohammed A, Gaunt, Tom R, Rassoulian, Hamid, AI Guthrie, Philip, Rodriguez, Santiago, Boustred, Christopher R, Spanakis, Emmanuel, Day, Ian N M

Journal:

Nature Protocols

Year:

2010

Language:

english

File:

PDF, 1.57 MB

english, 2010

16

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

Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed H. Alghamdi, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

17

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Aldahmesh, Mohammed A., Mohammed, Jawahir Y., Al-Hazzaa, Selwa, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

18

Congenital glaucoma and CYP1B1: an old story revisited

Alsaif, Hessa S., Khan, Arif O., Patel, Nisha, Alkuraya, Hisham, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Journal:

Year:

2018

Language:

english

File:

PDF, 981 KB

english, 2018

19

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Noor, Jawaher, Salem, Ahmed, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 742 KB

english, 2015

20

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

21

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

Arif O. Khan, Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hadia Hijazi, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

22

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Nowilaty, Sawsan R., Khan, Arif O., Aldahmesh, Mohammed A., Tabbara, Khalid F., Al-Amri, Abdullah, Alkuraya, Fowzan S.

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 1.73 MB

english, 2013

23

Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

24

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Arif O. Khan, Lama Al-Abdi, Jawahir Y. Mohamed, Mohammed A. Aldahmesh, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

25

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Aldahmesh, Mohammed A., Khan, Arif O., Alkuraya, Hisham, Adly, Nouran, Anazi, Shamsa, Al-Saleh, Ahmed A., Mohamed, Jawahir Y., Hijazi, Hadia, Prabakaran, Sarita, Tacke, Marlene, Al-Khrashi, Abdullah,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.67 MB

english, 2013

26

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 596 KB

english, 2013

27

Congenital glaucoma with acquired peripheral circumferential iris degeneration

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 380 KB

english, 2013

28

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Alsharif, Hadeel, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

29

Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1- related Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Hijazi, Hadia, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 612 KB

english, 2014

30

Author index for volume 2

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Journal of Stroke and Cerebrovascular Diseases

Year:

1992

File:

PDF, 156 KB

1992

31

No evidence for locus heterogeneity in Knobloch syndrome

Aldahmesh, M. A., Khan, A. O., Mohamed, J. Y., Levin, A. V., Wuthisiri, W., Lynch, S., McCreery, K., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 333 KB

english, 2013

32

Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawaher Y., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

33

Characterization of CTNS mutations in Arab patients with Cystinosis

Aldahmesh, Mohammed A., Humeidan, Amal, Almojalli, Hamad A., Khan, Arif O., Rajab, Mohammed, AL-Abbad, Abbas A., F. Meyer, Brian, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 1.19 MB

english, 2009

34

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

Khan, A. O., Aldahmesh, M. A., Mohamed, J. Y., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 497 KB

english, 2012

35

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 685 KB

english, 2012

36

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Patel, Nisha, Aldahmesh, Mohammed A., Alkuraya, Hisham, Anazi, Shamsa, Alsharif, Hadeel, Khan, Arif O., Sunker, Asma, Al-mohsen, Saleh, Abboud, Emad B., Nowilaty, Sawsan R., Alowain, Mohammed, Al-Zaid

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.96 MB

english, 2015

37

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE

Khalid K. Alharbi, Emmanuel Spanakis, Karen Tan, Matt J. Smith, Mohammed A. Aldahmesh, Sandra D. O'Dell, Avan Aihie Sayer, Debbie A. Lawlor, Shah Ebrahim, George Davey Smith, Stephen O'Rahilly, Sadaf

Journal:

Year:

2007

Language:

english

File:

PDF, 458 KB

english, 2007

38

Lenticular changes in cerebrotendinous xanthomatosis, a treatable metabolic disorder that is important to recognize

Khan, Arif O., Aldahmesh, Mohammed A., Jawaher, Arif, Fowzan, Y. Mohamed, Khan, S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

39

Characterizing the morbid genome of ciliopathies

Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A., Alazami, Anas M., Hashem, Mais, I

Journal:

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

40

Correlation of Ophthalmic Examination with Carrier Status in Females Potentially Harboring a Severe Norrie Disease Gene Mutation

Arif O. Khan, Mohammed A. Aldahmesh, Brian Meyer

Journal:

Year:

2008

Language:

english

File:

PDF, 228 KB

english, 2008

41

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

42

Corneal Ectasia and Hydrops in a Patient with Autosomal Recessive Cornea Plana

Khan, Arif O., Aldahmesh, Mohammed, Meyer, Brian

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

43

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

Khan, Arif O., Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Fowzan S.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

44

Posterior Microphthalmos as a Genetically Heterogeneous Condition That Can Be Allelic to Nanophthalmos

Aldahmesh, Mohammed A.

Journal:

Archives of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

45

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Al-Abdi, Lama, Mohamed, Jawahir Y., Hashem, Mais, Al-Ghamdi, Ismael, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

46

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 423 KB

english, 2016

47

Autozygosity Mapping with Exome Sequence Data

Carr, Ian M., Bhaskar, Sanjeev, O’ Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 605 KB

english, 2013

48

Recessive Cornea Plana in the Kingdom of Saudi Arabia

Arif O. Khan, Mohammed Aldahmesh, Brian Meyer

Journal:

Year:

2006

Language:

english

File:

PDF, 231 KB

english, 2006

49

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

Alazami, A. M., Hijazi, H., Al-Dosari, M. S., Shaheen, R., Hashem, A., Aldahmesh, M. A., Mohamed, J. Y., Kentab, A., Salih, M. A., Awaji, A., Masoodi, T. A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 2.21 MB

english, 2013

50

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

Khan, Arif O., Aldahmesh, Mohammed, Alkuraya, Fowzan

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2016

Language:

english

File:

PDF, 352 KB

english, 2016

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