Recent Submissions

  • Successful Ocreotide And Medium-Chain Triglyceride Therapy For Cylothorax In A Patient With Noonan Syndrome: Case Report 

    Beder, Sumru; Ersoy, Zinet Gui; Gullu, Emine; Utine, G. Eda; Kayacan, Oya; Karnak, Demet (Ortadogu Ad Pres & Publ Co, 2010)
    Noonan syndrome (NS), is an autosomal dominant disorder commonly seen in childhood and is characterized by short stature, congenital heart defects and facial abnormalities (especially in adults) along with thoracic deformity. ...
  • Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences 

    Teraoka, SN; Telatar, M; Becker-Catania, S; Liang, T; Onengut, S; Tolun, A; Chessa, L; Sanal, O; Bernatowska, E; Gatti, RA; Concannon, P (Cell Press, 1999)
    Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
  • Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1 

    Zhou, Jie; Tawk, Marcel; Tiziano, Francesco Danilo; Veillet, Julien; Bayes, Monica; Nolent, Flora; Garcia, Virginie; Servidei, Serenella; Bertini, Enrico; Castro-Giner, Francesc; Renda, Yavuz; Carpentier, Stephane; Andrieu-Abadie, Nathalie; Gut, Ivo; Levade, Thierry; Topaloglu, Haluk; Melki, Judith (Cell Press, 2012)
    Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ...
  • Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis 

    Ericson, KG; Fadeel, B; Nilsson-Ardnor, S; Soderhall, C; Samuelsson, A; Janka, G; Schneider, M; Gurgey, A; Yalman, N; Revesz, T; Egeler, RM; Jahnukainen, K; Storm-Mathiesen, I; Haraldsson, A; Poole, J; de Saint Basile, G; Nordenskjold, M; Henter, JI (Cell Press, 2001)
    Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ...
  • Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy 

    Agrawal, Pankaj B.; Pierson, Christopher R.; Joshi, Mugdha; Liu, Xiaoli; Ravenscroft, Gianina; Moghadaszadeh, Behzad; Talabere, Tiffany; Viola, Marissa; Swanson, Lindsay C.; Haliloglu, Goknur; Talim, Beril; Yau, Kyle S.; Allcock, Richard J. N.; Laing, Nigel G.; Perrella, Mark A.; Beggs, Alan H. (Cell Press, 2014)
    Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ...
  • Sequence Analysis And Homology Modeling Suggest That Primary Congenital Glaucoma On 2P21 Results From Mutations Disrupting Either The Hinge Region Or The Conserved Core Structures Of Cytochrome P4501B1 

    Stoilov, I; Akarsu, AN; Alozie, I; Child, A; Barsoum-Homsy, M; Turacli, ME; Or, M; Lewis, RA; Ozdemir, N; Brice, G; Aktan, SG; Chevrette, L; Coca-Prados, M; Sarfarazi, M (Cell Press, 1998)
    We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...
  • Recurrent Viral Infections Associated With A Homozygous Coro1A Mutation That Disrupts Oligomerization And Cytoskeletal Association 

    Yee, Christina S.; Massaad, Michel J.; Bainter, Wayne; Ohsumi, Toshiro K.; Foeger, Niko; Chan, Andrew C.; Akarsu, Nurten A.; Aytekin, Caner; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Sanal, Ozden; Geha, Raif S.; Chou, Janet (Mosby-Elsevier, 2016)
    Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
  • Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature 

    Liehr, T.; Utine, G. E.; Trautmann, U.; Rauch, A.; Kuechler, A.; Pietracz, J.; Bocian, E.; Kosyakova, N.; Mrasek, K.; Boduroglu, K.; Weise, A.; Aktas, D. (Karger, 2007)
    Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ...
  • Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans 

    Ozcelik, Tayfun; Akarsu, Nurten; Uz, Elif; Caglayan, Safak; Gulsuner, Suleyman; Onat, Onur Emre; Tan, Meliha; Tan, Uner (Natl Acad Sciences, 2008)
    Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ...
  • Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome 

    Kalay, Ersan; Sezgin, Orhan; Chellappa, Vasant; Mutlu, Mehmet; Morsy, Heba; Kayserili, Hulya; Kreiger, Elmar; Cansu, Aysegul; Toraman, Bayram; Abdalla, Ebtesam Mohammed; Aslan, Yakup; Pillai, Shiv; Akarsu, Nurten A. (Cell Press, 2012)
    The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ...
  • Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd 

    Taskiran, Ekim Z.; Korkmaz, Emine; Gucer, Safak; Kosukcu, Can; Kaymaz, Figen; Koyunlar, Cansu; Bryda, Elizabeth C.; Chaki, Moumita; Lu, Dongmei; Vadnagara, Komal; Candan, Cengiz; Topaloglu, Rezan; Schaefer, Franz; Attanasio, Massimo; Bergmann, Carsten; Ozaltin, Fatih (Amer Soc Nephrology, 2014)
    Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ...
  • Mutations Affecting The Bhlha9 Dna-Binding Domain Cause Mssd, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Malik-Percin Type 

    Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl-Heinz (Cell Press, 2014)
    Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait ...
  • Molecular And Clinical Spectrum Of Type I Plasminogen Deficiency: A Series Of 50 Patients 

    Tefs, Katrin; Gueorguieva, Maria; Klammt, Juergen; Allen, Carl M.; Aktas, Dilek; Anlar, Fehim Y.; Aydogdu, Sultan D.; Brown, Deborah; Ciftci, Ergin; Contarini, Patricia; Dempfle, Carl-Erik; Dostalek, Miroslav; Eisert, Susanne; Gokbuget, Aslan; Gunhan, Omer; Hidayat, Ahmed A.; Hugle, Boris; Isikoglu, Mete; Irkec, Murat; Joss, Shelagh K.; Klebe, Sonja; Kneppo, Carolin; Kurtulus, Idil; Mehta, Rakesh P.; Ornek, Kemal; Schneppenheim, Reinhard; Seregard, Stefan; Sweeney, Elizabeth; Turtschi, Stephanie; Veres, Gabor; Zeitler, Petra; Ziegler, Maike; Schuster, Volker (Amer Soc Hematology, 2006)
    Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, ...
  • Mesoaxial Complete Syndactyly And Synostosis With Hypoplastic Thumbs: An Unusual Combination Or Homozygous Expression Of Syndactyly Type I? 

    Percin, EF; Percin, S; Egilmez, H; Sezgin, I; Ozbas, F; Akarsu, AN (British Med Journal Publ Group, 1998)
    Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe ...
  • Indicators Of Nutritional Status In Turkish Preschool Children: Results Of Turkish Demographic And Health Survey 1993 

    Tuncbilek, E; Unalan, T; Coskun, T (Oxford Univ Press United Kingdom, 1996)
    The Turkish Demographic and Health Survey (TDHS), conducted in 1993, provided data on the magnitude of malnutrition in a sample of 3152 preschool children from five geographical regions, and on its causal and conditioning ...
  • Investigation Of Some Parameters Affecting Methyl Orangeremoval By Fusarium Acuminatum 

    Yucel, Tugba Tugrul (Inst Tecnologia Parana, 2018)
    Dye stuff released to the ecosystem from textile industries cause a serious contamination and become a major environmental problem over the last few decades. As biological decolorization of textile wastewater is an important ...
  • Genome Scan Meta-Analysis Of Schizophrenia And Bipolar Disorder, Part Iii: Bipolar Disorder 

    Segurado, R; Detera-Wadleigh, SD; Levinson, DF; Lewis, CM; Gill, M; Nurnberg, JI; Craddock, N; DePaulo, JR; Baron, M; Gershon, ES; Ekholm, J; Cichon, S; Turecki, G; Claes, S; Kelsoe, JR; Schofield, PR; Badenhop, RF; Morissette, J; Coon, H; Blackwood, D; McInnes, LA; Foroud, T; Edenberg, HJ; Reich, T; Rice, JP; Goate, A; McInnis, MG; McMahon, FJ; Badner, JA; Goldin, LR; Bennett, P; Willour, VL; Zandi, PP; Liu, JJ; Gilliam, C; Juo, SH; Berrettini, WH; Yoshikawa, T; Peltonen, L; Lonnqvist, J; Nothen, MM; Schumacher, J; Windemuth, C; Rietschel, M; Propping, P; Maier, W; Alda, M; Grof, P; Rouleau, GA; Del-Favero, J; Van Broeckhoven, C; Mendlewicz, J; Adolfsson, R; Spence, MA; Luebbert, H; Adams, LJ; Donald, JA; Mitchell, PB; Barden, N; Shink, E; Byerley, W; Muir, W; Visscher, PM; Macgregor, S; Gurling, H; Kalsi, G; McQuillin, A; Escamilla, MA; Reus, VI; Leon, P; Freimer, NB; Ewald, H; Kruse, TA; Mors, O; Radhakrishna, U; Blouin, JL; Antonarakis, SE; Akarsu, N (Cell Press, 2003)
    Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ...
  • Homozygous Indel Mutation In Cdh11 As The Probable Cause Of Elsahy-Waters Syndrome 

    Taskiran, Ekim Z.; Karaosmanoglu, Beren; Kosukcu, Can; Dogan, Ozlem A.; Taylan-Sekeroglu, Hande; Simsek-Kiper, Pelin O.; Utine, Eda G.; Boduroglu, Koray; Alikasifoglu, Mehmet (Wiley, 2017)
    Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar ...

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