Journal Club
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function:http://www.pnas.org/content/101/32/11689
2. Dr.Khaled Abuamero, 15 Jan 2008
HAEMOPHILIA A: FROM MUTATION ANALYSIS TO NEW THERAPIES: http://www.nature.com/nrg/journal/v6/n6/abs/nrg1617.html
3. Abdulghani Kohilan, 29 Jan 2008
Epigenetics of autism spectrum disorders: http://hmg.oxfordjournals.org/cgi/content/full/15/suppl_2/R138
Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia:http://jmd.amjpathol.org/cgi/content/abstract/6/4/285
2. Yasser Assarraj, 12 Feb 2008
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients: http://hmg.oxfordjournals.org/cgi/content/abstract/9/9/1369
3. Dina Ahram, 19 Feb 2008
Genotype/Phenotype Correlations in Two Patients With 12q Subtelomere Deletions: http://www3.interscience.wiley.com/journal/116330998/abstract?CRETRY=1&SRETRY=0
4. Namat Khattab, 26 Feb 2008
Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=10090898
Mapping autism risk loci using genetic linkage and chromosomal rearrangements: http://www.nature.com/ng/journal/v39/n3/abs/ng1985.html
2. Crol Ann, 11 Mar 2008
Subtelomeric Rearrangements in the Mentally Retarded: A Comparison of Detection Methods: http://www3.interscience.wiley.com/journal/110489748/abstract
An Origin of DNA Replication in the Promoter Region of the Human Fragile X Mental Retardation (FMR1) Gene: http://mcb.asm.org/cgi/content/abstract/27/2/426
Improved Real-Time Multiplex Polymerase Chain Reaction Detection of Methylene-tetrahydrofolate Reductase (MTHFR) 677C_T and 1298A_C Polymorphisms Using Nearest Neighbor Model-Based Probe Design: http://jmd.amjpathol.org/cgi/content/abstract/9/3/345
2. Ghing Billedo, 13 May 2008
Effect of Gene Therapy on Visual Function in Leber’s Congenital Amaurosis:http://content.nejm.org/cgi/content/abstract/358/21/2231
De novo mutations in the gene encoding STXBP1(MUNC18-1) cause early infantile epileptic encephalopathy:http://www.nature.com/ng/journal/v40/n6/abs/ng.150.html
4. Joel Malek, 27 May 2008
Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1866172&rendertype=abstract
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing:
http://www.nature.com/ng/journal/v40/n6/abs/ng.128.html
2. Mazen Osman, 10 Jun 2008
Spectrum of Mutations in Long-QT Syndrome Genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2: http://circ.ahajournals.org/cgi/content/abstract/102/10/1178
3. Dr.Sayed Goda, 24 Jun 2008
Affinity-purification mass spectrometry (AP-MS) of serine/threonine phosphatases: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WN5-4NVDJ01- F&_user=10&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=
C000050221&_version=1&_urlVersion=0&_userid=10&md5=
a4344e4e7dfb9d3d94d37c36547aacc3
1. Yasser Assarraj, 1 Jul 2008
Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing: http://www.nature.com/nm/journal/v14/n5/abs/nm1708.html
1. Dina Ahram, 14 Oct 2008
Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome: http://www.cell.com/AJHG/retrieve/pii/S0002929708002140
The Impact of Imprinting: Prader-Willi Syndrome Resulting from Chromosome Translocation, Recombination, and Nondisjunction: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8651261
1. Nicanor Dayalo, 4 Nov 2008
CHARGE syndrome: an update: http://www.nature.com/ejhg/journal/v15/n4/abs/5201778a.html
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry: http://www.sciencemag.org/cgi/content/abstract/321/5886/218
3. Ghing Billedo, 18 Nov 2008
Long intronic GAA_TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia: http://nar.oxfordjournals.org/cgi/content/abstract/36/19/6056
1. Hala Ayad, 16 Dec 2008
Mutations in The Gene Encoding The Synaptic Scaffolding protein SHANK3 are associated with Autism Spectrum Disorders: http://www.nature.com/ng/journal/v39/n1/abs/ng1933.html
2. Dr.Hatem El-Shanti, 30 Dec 2008
Analysis of Germline GLI1 Variation Implicates Hedgehog Signalling in the Regulation of Intestinal Inflammatory Pathways: http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0050239&ct=1
Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes: http://www3.interscience.wiley.com/journal/118864619/abstract?CRETRY=1&SRETRY=0
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-b bioavailability regulation: http://www.nature.com/ng/journal/v40/n9/abs/ng.199.html
Next Generation Sequencing, Presentation
Genetic Linkage and Mapping Analysis, Presentation
Al Amal Hospital First Cancer Conference, Presentation
Some of the Current Research Activities in our Biochemistry/Genetic Engineering Laboratory, Presentation
Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16960802
The seventh International conference of ALJawhara centre for molecular medicine, genetic sciences & Inherited Diseases, Presentation
Genome-wide Association Scan in Psoriasis: New Insights into Chronic Inflammatory Disease Biology
4. Ghing Billedo, 24 Mar 2009
Association and Mutation Analyses of 16p11.2 Autism Candidate Genes
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004582
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
2. Dr. Fouad Al-Shaban, 14 Apr 2009
Genetics in Obesity, Presentation
The Genetic Signatures of Noncoding RNAs
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000459
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA
2. Mazen Osman, 12 May 2009
Favorable Preliminary Experience With Etanercept in Two Patients With the Hyperimmunoglobulinemia D and Periodic Fever Syndrome
3. Dina Ahram, 19 May 2009
Effective Treatment of Respiratory Alphaherpesvirus Infection Using RNA Interference
