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SoAS - Scholarly Publications: Recent submissions

  • Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N 
    El Maarri, O.; Berber, E.; Fidanci, I.D.; UN, C.; Aktuglu, G.; Gurgey, A.; Celkan, T.; Meral, A.; Oldenburg, J.; Graw, J.; Akar, N.; Caglayan, H.; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    The most common cause for severe cases of hemophilia A is the homologous recombination involving intron 22 and related sequences outside the F8 gene. F8 coding regions of the gene including the exon/intron junctions were ...
  • Factor VIII intron-1 inversion 
    El Maarri, O.; Schroder, J.; Schwaab, R.; Muller, C.R.; Oldenburg, J.; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
  • Lack of F8 mRNA 
    El Maarri, Osman; Singer, Heike; Klein, Claudia; Watzka, Mathias; Herbiniaux, Brackmann; Schroder, Jorg; Graw, Jochen; Muller, Clemens; Schramm, Wolfgang; Schwaab, Rainer; Haaf, Thomas; Hanfland, Peter; Oldenburg, Johannes; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    Hemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of patients with HA, no mutation is found in the F8 gene. Among this group, we report here on one patient with ...
  • Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes 
    El Maarri, Osman; Seoud, Muhieddine; Riviere, Jean-Baptiste; Oldenburg, Johannes; Walter, Jorn; Rouleau, Guy; Slim, Rima; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    In molar tissues from patients with recurrent biparental hydatidiform moles, we could previously demonstrate that differentially methylated regions (DMRs) of four imprinted genes are abnormally methylated on the maternal ...
  • Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform mole 
    El Maarri, Osman; Seoud, Muhieddine; Coullin, Philippe; Herbiniaux, Ursula; Oldenburg, Johannes; Rouleau, Guy; Slim, Rima; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    We previously mapped a maternal locus responsible for biparental complete hydatidiform moles (BiCHMs) to 19q13.4. The two index patients had a total of 14 molar pregnancies, eight abortions at various developmental stages, ...
  • Epimutations in Prader-Willi and angelman syndromes 
    El Maarri, Osman; Buiting, Karin; Grob, Stephanie; Lich, Stephanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant ...
  • Epigenetic reprogramming in mouse primordial germ cells 
    El Maarri, Osman; Hajkova, Petra; Erhardt, Sylvia; Lane, Natasha; Haaf, Thomas; Reik, Wolf; Walter, Jorn; Surani, M.Azmi; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    Genome-wide epigenetic reprogramming in mammalian germ cells, zygote and early embryos, plays a crucial role in regulating genome functions at critical stages of development. We show here that mouse primordial germ cells ...
  • A rapid, quantitative, non-radioactive bisulfite-SNuPE- IP RP HPLC assay for methylation analysis at specific CpG sites 
    El Maarri, Osman; Herbiniaux, Ursula; Walter, Jorn; Oldenburg, Johannes; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    The precise mapping and quantification of DNA methylation as an epigenetic parameter during development and in diseased tissues is of great importance for functional genomics. Here we describe a rapid, quantitative method ...
  • DNA methylation at promoter regions regulates the timing of gene activation in xenopus laevis embryos 
    El Maarri, Osman; Stancheva, Irina; Walter, Joern; Niveleau, Alain; Meehan, Richard R.; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    The levels of genomic DNA methylation in vertebrate species display a wide range of developmental dynamics. Here, we show that in contrast to mice, the paternal genome of the amphibian, Xenopus laevis, is not subjected to ...
  • Maternal methylation imprints on human chromosome 15 are established during or after fertilization 
    El Maarri, Osman; Buiting, Karin; Peery, Edwin G.; Kroisel, Peter M.; Balaban, Basak; Wagner, Klaus; Urman, Bulent; Heyd, Julia; Lich, Christina; Brannan, Camilynn I.; Walter, John; Horsthemke, Bernhard; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
  • Methylation profiles of DXPas34 during the onset of X-inactivation 
    El Maarri, Osman; Prissette, Marine; Arnaud, Danielle; Walter, Jorn; Avner, Philip; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    X chromosome inactivation is controlled by the cis-acting X-inactivation centre (Xic). In addition to initiating inactivation, Xic, which includes the Xist gene, is involved in both a counting process that senses the number ...
  • De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism 
    El Maarri, Osman; Oldenburg, Johannes; Rost, Simone; Leuer, Marco; Olek, Klaus; Muller, Clemen R.; Schwaab, Rainer; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in ...
  • Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene 
    El Maarri, Osman; Oldenburg, Johannes; Caglayan, S.Hande; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    The Xba I polymorphic site in the factor VIII gene is present in the int22h-1 region which is found in two other copies (int22h-2 and int22h-3) distal to the gene. Previously the polymorphic status of the Xba I locus was ...
  • Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells 
    El Maarri, Osman; Olek, Alexander; Balaban, Basak; Montag, Markus; Van der Ven, Hans; Urman, Bulent; Olek, Klaus; Caglayan, S.Hande; Walter, Jorn; Oldenburg, Johannes; SAS; 200508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    Transitional mutations at CpG dinucleotides account for approximately a third of all point mutations. These mutations probably arise through spontaneous deamination of 5-methylcytosine. Studies of CpG mutation rates in ...
  • Analysis of the two microsatellite repeat polymorphisms of the factor VIII gene in the Turkish population 
    El Maarri, Osman; Jarjanazi, Hamdi; Timur, A.Anil; Caglayan, S.Hande; SAS; 201508713; Natural Sciences; osman.elmaarri@lau.edu.lb; Lebanese American University
    DNA-based diagnosis of haemophilia A has previously been carried out by linkage analysis using two highly informative markers, Hind III RFLP and St14 VNTR, for affected Turkish families. In the present study the number and ...
  • Role of CRTC1/MAML2 Translocation in Determining Prognosis and Clinical Outcomes in Mucoepidermoid Carcinoma Patients 
    Saade, RE; Bell, D; Garcia, JJ; SAS; 200102768; Natural Sciences; rami.saade@lau.edu.lb; Lebanese American University
    Bell, D., Saade, R. E., Garcia, J. J., Roberts, D., & Weber, R. S. (2016, February). Role of CRTC1/MAML2 Translocation in Determining Prognosis and Clinical Outcomes in Mucoepidermoid Carcinoma Patients: The MD Anderson ...
  • Primary extradural meningioma presenting as a neck mass 
    Saade, Rami E.; Hessel, Amy; Ginsberg, Lawrence; Fuller, Greg; Bell, Diana; SAS; 200102768; Natural Sciences; rami.saade@lau.edu.lb; Lebanese American University
    Background: Primary extradural meningiomas (PEMs) are rare, particularly those involving the paraspinal cervical area, so little is known about them. We identified a new case and compare it with 10 previous cases, address ...
  • Prognosis and biology in esthesioneuroblastoma: the emerging role of Hyams grading system 
    Saade, Rami E.; Hanna, Ehab Y.; Bell, Diana; SAS; 200102768; Natural Sciences; rami.saade@lau.edu.lb; Lebanese American University
    Esthesioneuroblastoma is a sinonasal tumor with distinct clinicopathologic features, multiple facets, and a spectrum of behavior. Characterization of this disease is challenging, and clinically, several staging systems ...
  • Role of CRTC1/MAML2 translocation in the prognosis and clinical outcomes of mucoepidermoid carcinoma 
    Saade, Rami E.; Bell, Diana; Garcia, Joaquin; SAS; 200102768; Natural Sciences; rami.saade@lau.edu.lb; Lebanese American University
    Importance The CRTC1/MAML2 fusion transcript, which arises from the CRTC1/MAML2 translocation, is a molecular marker unique to mucoepidermoid carcinoma (MEC), the most common malignant tumor of the salivary gland. The ...
  • The role of OM-85 BV (Broncho-Vaxom) in preventing recurrent acute tonsillitis in children 
    Saade, Rami; Bitar, Mohamed A.; SAS; 200102768; Natural Sciences; rami.saade@lau.edu.lb; Lebanese American University
    To evaluate the efficacy of an immunostimulant (bacterial lysate) Broncho-Vaxom in the management of children with recurrent acute tonsillitis. Methods A 5-year retrospective cohort study of 177 children presenting ...

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