Aldahmesh, M. 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

Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C)

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

Journal:

American Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 1.14 MB

english, 2007

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

Al-Hamed, M., Sayer, J. A., Al-Hassoun, I., Aldahmesh, M. A., Meyer, B.

Journal:

Year:

2010

Language:

english

File:

PDF, 472 KB

english, 2010

20

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

21

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

22

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

23

Homozygous truncation of SIX6 causes complex microphthalmia in humans

Aldahmesh, M A, Khan, A O, Hijazi, H, Alkuraya, F S

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 611 KB

english, 2013

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

Mutations in ALDH1A3 cause microphthalmia

Aldahmesh, M A, Khan, A O, Hijazi, H, Alkuraya, F S

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 673 KB

english, 2013

32

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

33

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

Pretorius, P. R., Aldahmesh, M. A., Alkuraya, F. S., Sheffield, V. C., Slusarski, D. C.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 356 KB

english, 2011

34

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

35

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

36

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

37

Bilateral Duane Syndrome and Bilateral Aniridia

Arif O. Khan, Mohammad Aldahmesh

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 301 KB

english, 2006

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

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

46

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

47

PAX6 Analysis of Two Unrelated Families from the Arabian Peninsula with Classic Hereditary Aniridia

Khan, Arif O., Aldahmesh, Mohammad A.

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 769 KB

english, 2008

48

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

49

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

50

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

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