Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mohamed Al-Hamed"'
Autor:
Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28c479d7a38d1c84b474c12a6461390d
https://doi.org/10.21203/rs.3.rs-828519/v1
https://doi.org/10.21203/rs.3.rs-828519/v1
Autor:
Mohamed Al Hamed, Eric Olinger, Intisar Al Alawi, Miguel Barroso-Gil, Elisa Molinari, Eissa Faqeih, John A. Sayer, Ian D. Wilson
Publikováno v:
Nephrology Dialysis Transplantation. 36
Background and Aims Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice and has been extensively applied in research studies as well as for diagnostic utility to detect various novel genes and variants. Filtering
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07264d1ada1b42e903157eb5ea077921
https://doi.org/10.1093/ndt/gfab080.0011
https://doi.org/10.1093/ndt/gfab080.0011
Publikováno v:
Genes
Volume 6
Issue 2
Pages 206-215
Genes, Vol 6, Iss 2, Pp 206-215 (2015)
Volume 6
Issue 2
Pages 206-215
Genes, Vol 6, Iss 2, Pp 206-215 (2015)
The autosomal recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is associated with mutations in either ABCC8 or KCNJ11 genes. In the present study, we describe the clinical features and results of genetic analysis of 13 Sau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b8973b667543cd8dba49ef6bd285e3
http://europepmc.org/articles/PMC4488661
http://europepmc.org/articles/PMC4488661
Autor:
D. McCormick, F. N. Hattab, Dušan Turk, Michael J. Dixon, Reza Yaghmai, Ethlin W. Jabs, Peter Brett, Gerry Linden, Chelsee Hewitt, Pedro Bullón, Igor Stern, I. R. Wallace, Mohamed Al-Hamed, Nalin Thakker, Jacqueline James, Melanie Wong, Richard P Widmer, Stefan G. Rüdiger, Philip Sloan, Carmel Toomes, Peter H. Hoeger, James E. Briggs, Oliver Bleck, Khaled Abdul Gaffar, Gregor J. Petersilka, Liqun Zhang, Lama Awawdeh, Rebecca Howard, Maurizio Battino, Louise Southern, Andrew P. Read
Publikováno v:
Human Mutation. 23:222-228
We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon Lefevre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early,onset, severe periodontitis. Others hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab24b27ec177b08096b73ff304e0991e
https://doi.org/10.1002/humu.10314
https://doi.org/10.1002/humu.10314
Autor:
Hussein, Raef, Minjing, Zou, Essa Y, Baitei, Roua A, Al-Rijjal, Namik, Kaya, Mohamed, Al-Hamed, Dorota, Monies, Nada N, Abu-Dheim, Hindi, Al-Hindi, Mohammed H, Al-Ghamdi, Brian F, Meyer, Yufei, Shi
Publikováno v:
Clinical endocrinology. 75(6)
The MEN1 syndrome is associated with parathyroid, pancreatic and pituitary tumours and is caused by mutations in the MEN1 gene. In general, there is no genotype-phenotype correlation.To characterize a large family with MEN1 with aggressive tumour beh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b11d1fee5196ea8a461784fbc5ef5ca8
https://pubmed.ncbi.nlm.nih.gov/21627674
https://pubmed.ncbi.nlm.nih.gov/21627674
Autor:
Chelsee, Hewitt, Derek, McCormick, Gerry, Linden, Dusan, Turk, Igor, Stern, Ian, Wallace, Louise, Southern, Liqun, Zhang, Rebecca, Howard, Pedro, Bullon, Melanie, Wong, Richard, Widmer, Khaled Abdul, Gaffar, Lama, Awawdeh, Jim, Briggs, Reza, Yaghmai, Ethlin W, Jabs, Peter, Hoeger, Oliver, Bleck, Stefan G, Rüdiger, Gregor, Petersilka, Maurizio, Battino, Peter, Brett, Faiez, Hattab, Mohamed, Al-Hamed, Philip, Sloan, Carmel, Toomes, Mike, Dixon, Jacqueline, James, Andrew P, Read, Nalin, Thakker
Publikováno v:
Human mutation. 23(3)
We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::02216097e25208d6a227148698170cca
https://pubmed.ncbi.nlm.nih.gov/14974080
https://pubmed.ncbi.nlm.nih.gov/14974080