Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophya
Riazuddin, S. Amer, Vithana, Eranga N, Seet, Li‐Fong, Liu, Yangjian, Al‐Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N, Eghrari, Allen O, Gottsch, John D, Katsanis, Nicholas
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
Get full text
Journal Article
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Bohlega, Saeed A., Abou-Al-Shaar, Hussam, AlDakheel, Amaal, Alajlan, Huda, Bohlega, Balsam S., Meyer, Brian F., Monies, Dorota, Cupler, Edward J., Al-Saif, Amr M.
Published in Parkinsonism & related disorders (01.07.2019)
Published in Parkinsonism & related disorders (01.07.2019)
Get full text
Journal Article
Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2
Langston, Rebekah G., Rudenko, Iakov N., Kumaran, Ravindran, Hauser, David N., Kaganovich, Alice, Ponce, Luis Bonet, Mamais, Adamantios, Ndukwe, Kelechi, Dillman, Allissa A., Al-Saif, Amr M., Beilina, Aleksandra, Cookson, Mark R.
Published in Neurochemical research (01.06.2019)
Published in Neurochemical research (01.06.2019)
Get full text
Journal Article
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b
McGaughey, David M, Vinton, Ryan M, Huynh, Jimmy, Al-Saif, Amr, Beer, Michael A, McCallion, Andrew S
Published in Genome Research (01.02.2008)
Published in Genome Research (01.02.2008)
Get full text
Journal Article
Linkage of a Mild Late-Onset Phenotype of Fuchs Corneal Dystrophy to a Novel Locus at 5q33.1-q35.2
Riazuddin, S. Amer, Eghrari, Allen O, Al-Saif, Amr, Davey, Lisa, Meadows, Danielle N, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2009)
Published in Investigative ophthalmology & visual science (01.12.2009)
Get full text
Journal Article
Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p
Riazuddin, S. Amer, Zaghloul, Norann A., Al-Saif, Amr, Davey, Lisa, Diplas, Bill H., Meadows, Danielle N., Eghrari, Allen O., Minear, Mollie A., Li, Yi-Ju, Klintworth, Gordon K., Afshari, Natalie, Gregory, Simon G., Gottsch, John D., Katsanis, Nicholas
Published in American journal of human genetics (2010)
Published in American journal of human genetics (2010)
Get full text
Journal Article
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy
Riazuddin, S. Amer, Vithana, Eranga N., Seet, Li-Fong, Liu, Yangjian, Al-Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N., Eghrari, Allen O., Gottsch, John D., Katsanis, Nicholas
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
Get full text
Journal Article
Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2
Riazuddin, S Amer, Eghrari, Allen O, Al-Saif, Amr, Davey, Lisa, Meadows, Danielle N, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2009)
Published in Investigative ophthalmology & visual science (01.12.2009)
Get full text
Journal Article
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
Alazami, Anas M., Al-Saif, Amr, Al-Semari, Abdulaziz, Bohlega, Saeed, Zlitni, Soumaya, Alzahrani, Fatema, Bavi, Prashant, Kaya, Namik, Colak, Dilek, Khalak, Hanif, Baltus, Andy, Peterlin, Borut, Danda, Sumita, Bhatia, Kailash P., Schneider, Susanne A., Sakati, Nadia, Walsh, Christopher A., Al-Mohanna, Futwan, Meyer, Brian, Alkuraya, Fowzan S.
Published in American journal of human genetics (12.12.2008)
Published in American journal of human genetics (12.12.2008)
Get full text
Journal Article
Propionic acidemia associated with visual hallucinations
Shuaib, Taghreed, Al-Hashmi, Nadia, Ghaziuddin, Mohammad, Megdad, Eman, Abebe, Dejene, Al-Saif, Amr, Doubi, Alaa, Aldhalaan, Hesham, Abouzied, Mohei Eldin, Al-Owain, Mohammed
Published in Journal of child neurology (01.06.2012)
Published in Journal of child neurology (01.06.2012)
Get more information
Journal Article
Age-severity relationships in families linked to FCD2 with retroillumination photography
McGlumphy, Elyse J, Yeo, William S, Riazuddin, S Amer, Al-Saif, Amr, Wang, Jiangxia, Eghrari, Allen O, Meadows, Danielle N, Emmert, David G, Katsanis, Nicholas, Gottsch, John D
Published in Investigative ophthalmology & visual science (01.12.2010)
Published in Investigative ophthalmology & visual science (01.12.2010)
Get full text
Journal Article
Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy
Riazuddin, S. Amer, Vithana, Eranga N., Seet, Li-Fong, Liu, Yangjian, Al-Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N., Eghrari, Allen O., Gottsch, John D., Katsanis, Nicholas
Published in Human mutation (14.10.2010)
Published in Human mutation (14.10.2010)
Get full text
Journal Article
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extra pyramidal Syndrome
ALAZAMI, Anas M, AL-SAIF, Amr, BALTUS, Andy, PETERLIN, Borut, DANDA, Sumita, BHATIA, Kailash P, SCHNEIDER, Susanne A, SAKATI, Nadia, WALSH, Christopher A, AL-MOHANNA, Futwan, MEYER, Brian, ALKURAYA, Fowzan S, AL-SEMARI, Abdulaziz, BOHLEGA, Saeed, ZLITNI, Soumaya, ALZAHRANI, Fatema, BAVI, Prashant, KAYA, Namik, COLAK, Dilek, KHALAK, Hanif
Published in American journal of human genetics (2008)
Get full text
Published in American journal of human genetics (2008)
Journal Article