Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency (English)
- New search for: Karam, Pascale E.
- New search for: Alhamra, Rasha Shahabeddeen
- New search for: Nemer, Georges
- New search for: Usta, Julnar
- New search for: Karam, Pascale E.
- New search for: Alhamra, Rasha Shahabeddeen
- New search for: Nemer, Georges
- New search for: Usta, Julnar
In:
Gene
;
515
, 1
;
117-122
;
2012
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency
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Contributors:Karam, Pascale E. ( author ) / Alhamra, Rasha Shahabeddeen ( author ) / Nemer, Georges ( author ) / Usta, Julnar ( author )
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Published in:Gene ; 515, 1 ; 117-122
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Publisher:
- New search for: Elsevier B.V.
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Publication date:2012-11-20
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Size:6 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:AV , Arbitrary Value , BH4 , Tetrahydrobiopterin , HR , Homozygosity rate , IVS , Intervening sequences , MHP , Mild Hyperphenylalaninemia , PAH , Phenylalanine hydroxylase , Phe , Phenylalanine , PKU , phenylketonuria , PRA , Predicted residual activity , Genotype–phenotype , Lebanon
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Source:
Table of contents – Volume 515, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Recombinase-mediated cassette exchange (RMCE) — A rapidly-expanding toolbox for targeted genomic modificationsTuran, Soeren / Zehe, Christoph / Kuehle, Johannes / Qiao, Junhua / Bode, Juergen et al. | 2012
- 28
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Accumulation of slightly deleterious mutations in the mitochondrial genome: A hallmark of animal domesticationHughes, Austin L. et al. | 2012
- 34
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Human PSENEN and U2AF1L4 genes are concertedly regulated by a genuine bidirectional promoterDidych, D.A. / Shamsutdinov, M.F. / Smirnov, N.A. / Akopov, S.B. / Monastyrskaya, G.S. / Uspenskaya, N.Y. / Nikolaev, L.G. / Sverdlov, E.D. et al. | 2012
- 42
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Human TNFα-induced protein 3-interacting protein 1 (TNIP1) promoter activation is regulated by retinoic acid receptorsGurevich, Igor / Zhang, Carmen / Francis, Nidhish / Struzynsky, Charles P. / Livings, Sarah E. / Aneskievich, Brian J. et al. | 2012
- 42
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Human TNFa-induced protein 3-interacting protein 1 (TNIP1) promoter activation is regulated by retinoic acid receptorsGurevich, I. / Zhang, C. / Francis, N. / Struzynsky, C. P. / Livings, S. E. / Aneskievich, B. J. et al. | 2013
- 49
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Association between interleukin-10 promoter polymorphisms and endometriosis: A meta-analysisFan, Wei / Li, Shangwei / Chen, Qiong / Huang, Zhongying / Ma, Qianhong / Xiao, Zhun et al. | 2012
- 56
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Association between IL13 gene polymorphisms and susceptibility to cancer: A meta-analysisSu, Tong / Mi, Yuanyuan / Zhang, Lifeng / Wang, Shangqian / Lu, Hongbiao / Shi, Li / Sun, Heyun / Wu, Xiaopeng / Zhang, Wei / Zuo, Li et al. | 2012
- 62
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Novel genes that mediate nuclear respiratory factor 1-regualted neurite outgrowth in neuroblastoma IMR-32 cellsTong, Chih-Wei / Wang, Jen-Ling / Jiang, Mei-Sian / Hsu, Chia-Hao / Chang, Wen-Teng / Huang, A-Min et al. | 2012
- 71
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Molecular cloning and tissue distribution of the phosphotyrosine interaction domain containing 1 (PID1) gene in Tianfu goatXu, Honggang / Xu, Gangyi / Wang, Daihua / Zheng, Chengli / Wan, Lu et al. | 2012
- 78
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Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutationsDas, Dhanjit Kumar / Raha, Sarbani / Sanghavi, Daksha / Maitra, Anurupa / Udani, Vrajesh et al. | 2012
- 84
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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndromeKhan, Saadullah / Ullah, Imran / Irfanullah / Touseef, Muhammad / Basit, Sulman / Khan, Muhammad Nasim / Ahmad, Wasim et al. | 2012
- 89
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Cloning and expression characterization of the serum transferrin gene in the Chinese black sleeper (Bostrichthys sinensis)Gao, Jing / Ding, Shaoxiong / Huang, Xiaohong / Shi, Xiaofeng et al. | 2012
- 99
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Plasmodium falciparum RuvB1 is an active DNA helicase and translocates in the 5′–3′ directionAhmad, Moaz / Tuteja, Renu et al. | 2012
- 110
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Methionine sulfoxide reduction in ciliates: Characterization of the ready-to-use methionine sulfoxide-R-reductase genes in EuplotesDobri, Nicoleta / Oumarou, Eugenie Emilie Ngueng / Alimenti, Claudio / Ortenzi, Claudio / Luporini, Pierangelo / Vallesi, Adriana et al. | 2012
- 117
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Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiencyKaram, Pascale E. / Alhamra, Rasha Shahabeddeen / Nemer, Georges / Usta, Julnar et al. | 2012
- 123
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Identification of the highly accumulated microRNA*s in Arabidopsis (Arabidopsis thaliana) and rice (Oryza sativa)Shao, Chaogang / Ma, Xiaoxia / Xu, Xiufang / Meng, Yijun et al. | 2012
- 128
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A recombinase paralog from the hyperthermophilic crenarchaeon Sulfolobus solfataricus enhances SsoRadA ssDNA binding and strand displacementGraham, William J. V / Haseltine, Cynthia A. et al. | 2012
- 140
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Identification of glyoxalase 1 polymorphisms associated with enzyme activityPeculis, Raitis / Konrade, Ilze / Skapare, Elina / Fridmanis, Davids / Nikitina-Zake, Liene / Lejnieks, Aivars / Pirags, Valdis / Dambrova, Maija / Klovins, Janis et al. | 2012
- 144
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The expression of multiple myosin heavy chain genes during skeletal muscle development of torafugu Takifugu rubripes embryos and larvaeAsaduzzaman, Md. / Akolkar, Dadasaheb B. / Kinoshita, Shigeharu / Watabe, Shugo et al. | 2012
- 155
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The p.Arg86Gln change in GARP2 (glutamic acid-rich protein-2) is a common West African-related polymorphismGibriel, Abdullah A.Y. / Tate, Rothwelle J. / Yu, Yongbin / Rawson-Lax, Emma / Hammer, Harold M. / Tettey, Justice N.A. / Pyne, Nigel J. / Converse, Carolyn A. et al. | 2012
- 159
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The identification of dysfunctional crosstalk of pathways in Parkinson diseaseDiao, Hongyu / Li, Xinxing / Hu, Sheng et al. | 2012
- 163
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Evaluation of hypermethylation and expression pattern of GMR2, GMR5, GMR8, and GRIA3 in patients with schizophreniaKordi-Tamandani, Dor Mohammad / Dahmardeh, Nahid / Torkamanzehi, Adam et al. | 2012
- 167
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Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal womenTural, Sengul / Kara, Nurten / Alayli, Gamze / Tomak, Leman et al. | 2012
- 173
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14-3-3e Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosumChang, B. / Gorbea, C. / Lezin, G. / Li, L. / Shan, L. / Sakai, N. / Kogaki, S. / Otomo, T. / Okinaga, T. / Hamaoka, A. et al. | 2013
- 173
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14-3-3ε Gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosumChang, Bo / Gorbea, Carlos / Lezin, George / Li, Ling / Shan, Lishen / Sakai, Norio / Kogaki, Shigetoyo / Otomo, Takanobu / Okinaga, Takeshi / Hamaoka, Akiko et al. | 2012
- 181
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SNP identification in FBXO32 gene and their associations with growth traits in cattleWang, Ailan / Zhang, Ya / Li, Mijie / Lan, Xianyong / Wang, Juqiang / Chen, Hong et al. | 2012
- 187
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Association study of the calcitonin gene-related polypeptide-alpha (CALCA) and the receptor activity modifying 1 (RAMP1) genes with migraineSutherland, H.G. / Buteri, J. / Menon, S. / Haupt, L.M. / MacGregor, E.A. / Lea, R.A. / Griffiths, L.R. et al. | 2012
- 193
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Genetic polymorphism of vitamin D receptor gene affects the phenotype of PCOSZadeh-Vakili, Azita / Ramezani Tehrani, Fahimeh / Daneshpour, Maryam Sadat / Zarkesh, Maryam / Saadat, Navid / Azizi, Fereidoun et al. | 2012
- 197
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A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathyAtay, Zeynep / Bereket, Abdullah / Turan, Serap / Haliloglu, Belma / Memisoglu, Aslı / Khayat, Morad / Shalev, Stavit A. / Spiegel, Ronen et al. | 2012
- 200
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Association of the variant rs2243421 of human DOC-2/DAB2 interactive protein gene (hDAB2IP) with gastric cancer in the Chinese Han populationXu, Song / Zhou, Yuan / Du, Wei-Dong / Chen, Gang / Zhou, Fu-Sheng / Schneider, Marion / Ma, Xue-Ling / Xu, Hong-Yuan / Zhang, Xue-Jun et al. | 2012
- 205
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A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: The role of nonsense-mediated mRNA decayWang, Kaiyu / Lin, Baoshun / Lin, Jianmin / Lan, Xiaopeng et al. | 2012
- 208
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Effects of carbon-ion beam or X-ray irradiation on anti-apoptosis ΔNp73 expression in HeLa cellsDi, Cui-Xia / Yang, Li-Na / Zhang, Hong / An, Li-Zhe / Zhang, Xin / Ma, Xiao-Fei / Sun, Chao / Wang, Xiao-Hu / Yang, Rong / Wu, Zhen-hua et al. | 2012
- 208
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Effects of carbon-ion beam or X-ray irradiation on anti-apoptosis DNp73 expression in HeLa cellsDi, C. X. / Yang, L. N. / Zhang, H. / An, L. Z. / Zhang, X. / Ma, X. F. / Sun, C. / Wang, X. H. / Yang, R. / Wu, Z. h. et al. | 2013
- 214
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Methylenetetrahydrofolate reductase 677TT genotype might be associated with an increased lung cancer risk in AsiansLiu, Zheng-Bing / Wang, Li-Ping / Shu, Jun / Jin, Cheng / Lou, Zhi-Xia et al. | 2012
- 220
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Mapping and tissue mRNA expression analysis of the pig solute carrier 27A (SLC27A) multigene familyGallardo, D. / Amills, M. / Quintanilla, R. / Pena, R.N. et al. | 2012
- 224
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Common variant in FUT2 gene is associated with levels of vitamin B12 in Indian populationTanwar, Vinay Singh / Chand, Mandeep P. / Kumar, Jitender / Garg, Gaurav / Seth, Sandeep / Karthikeyan, Ganesan / Sengupta, Shantanu et al. | 2012
- 229
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The IL-17F sequence variant is associated with susceptibility to tuberculosisPeng, Rong / Yue, Jun / Han, Min / Zhao, Yanlin / Liu, Lirong / Liang, Li et al. | 2012
- 233
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Association of resistin gene polymorphisms with insulin resistance in Egyptian obese patientsEl-Shal, Amal S. / Pasha, Heba F. / Rashad, Nearmeen M. et al. | 2012
- 239
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Corrigendum to “Lytic bone disease as the presenting feature of Philadelphia-positive, derivative chromosome 7 myelodysplasia progressing to acute myeloid leukaemia” [GENE 501 (2012) 219–221]Tucker, D. / Hamilton, M.S. / Kerr, J.P. / Wickham, C. / Hunter, H. et al. | 2012
- iv
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Editorial Board| 2011