Bölüm "Tıbbi Genetik" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme

Toplam kayıt 40, listelenen: 1-20

    • Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome 

      Dinçer, Tuba; Yorgancıoğlu-Budak, Gülden; Ölmez, Akgün; Er, İdris; Dodurga, Yavuz; Özdemir, Özmert M. A.; Toraman, Bayram; Yıldırım, Adem; Sabır, Nuran; Akarsu, Nurten A.; Semerci, C. Nur; Kalay, Ersan (Nature Publishing Group, 2017)
      Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ...

    • Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish 

      Asharani, P. V.; Keupp, Katharina; Semler, Oliver; Wang, Wenshen; Li, Yun; Thiele, Holger; Yigit, Goekhan; Pohl, Esther; Becker, Jutta; Frommolt, Peter; Sonntag, Carmen; Altmueller, Janine; Zimmermann, Katharina; Greenspan, Daniel S.; Akarsu, Nurten A.; Netzer, Christian; Schoenau, Eckhard; Wirth, Radu; Hammerschmidt, Matthias; Nuernberg, Peter; Wollnik, Bernd; Carney, Thomas J. (Cell Press, 2012)
      Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGF beta superfamily members. ...

    • Clinically Abnormal Case With Paternally Derived Partial Trisomy 8P23.3 To 8P12 Including Maternal Isodisomy Of 8P23.3: A Case Report 

      Aktas, Dilek; Weise, Anja; Utine, Eda; Alehan, Dursun; Mrasek, Kristin; von Eggeling, Ferdinand; Thieme, Heike; Tuncbilek, Ergul; Liehr, Thomas (2009)
      Background Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic ...

    • Complex Small Supernumerary Marker Chromosomes – An Update 

      Liehr, Thomas; Cirkovic, Sanja; Lalic, Tanja; Guc-Scekic, Marija; de Almeida, Cynthia; Weimer, Jörg; Iourov, Ivan; Melaragno, Maria Isabel; Guilherme, Roberta S; Stefanou, Eunice-Georgia G; Aktas, Dilek; Kreskowski, Katharina; Klein, Elisabeth; Ziegler, Monika; Kosyakova, Nadezda; Volleth, Marianne; Hamid, Ahmed B (2013)
      Background Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best ...

    • Congenital Contractural Arachnodactyly (Beals Syndrome) 

      Tunçbilek, Ergül; Alanay, Yasemin (2006)
      Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae ...

    • Crim1 Haploinsufficiency Causes Defects In Eye Development In Human And Mouse 

      Beleggia, Filippo; Li, Yun; Fan, Jieqing; Elcioglu, Nursel H.; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H.; Akarsu, Nurten A.; Meitinger, Thomas; Strom, Tim M.; Lang, Richard; Wollnik, Bernd (Oxford Univ Press, 2015)
      Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with ...

    • Dach: Genomic Characterization, Evaluation As A Candidate For Postaxial Polydactyly Type A2, And Developmental Expression Pattern Of The Mouse Homologue 

      Ayres, JA; Shum, L; Akarsu, AN; Dashner, R; Takahashi, K; Ikura, T; Slavkin, HC; Nuckolls, GH (Academic Press Inc, 2001)
      The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible ...

    • Derivative Chromosome 1 And Glut1 Deficiency Syndrome In A Sibling Pair 

      Aktaş, Dilek; Utine, Eda G; Mrasek, Kristin; Weise, Anja; von Eggeling, Ferdinand; Yalaz, Kalbiye; Posorski, Nicole; Akarsu, Nurten; Alikasifoglu, Mehmet; Liehr, Thomas; Tuncbilek, Ergul (2010)
      Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene ...

    • Dermal Fibroblast Transcriptome Indicates Contribution Of Wnt Signaling Pathways In The Pathogenesis Of Apert Syndrome 

      Cetinkaya, Arda; Taskiran, Ekim; Soyer, Tutku; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Tuncbilek, Gokhan; Boduroglu, Koray; Alikasifoglu, Mehmet (Turkish J Pediatrics, 2017)
      Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert ...

    • Disruption Of A Long-Range Cis-Acting Regulator For Shh Causes Preaxial Polydactyly 

      Lettice, LA; Horikoshi, T; Heaney, SJH; van Baren, MJ; van der Linde, HC; Breedveld, GJ; Joosse, M; Akarsu, N; Oostra, BA; Endo, N; Shibata, M; Suzuki, M; Takahashi, E; Shinka, T; Nakahori, Y; Ayusawa, D; Nakabayashi, K; Scherer, SW; Heutink, P; Hill, RE; Noji, S (Natl Acad Sciences, 2002)
      Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation ...

    • Early Prenatal Diagnosis Of Conjoined Twins At 7 Weeks And 6 Days' Gestation With Two-Dimensional Doppler Ultrasound: A Case Report 

      Taner, M Zeki; Kurdoğlu, Mertihan; Taşkıran, Cağatay; Kurdoğlu, Zehra; Himmetoğlu, Özdemir; Balcı, Sevim (2009)
      This case report presents the prenatal diagnosis of conjoined twins at 7 weeks and 6 days’ gestation according to the last menstrual period and 6 weeks and 4 days’ gestation according to crown-rump length in a 32-year-old ...

    • Epigenotype And Phenotype Correlations In Patients With Beckwith-Wiedemann Syndrome 

      Bilgin, Burcak; Kabacam, Serkan; Taskiran, Ekim; Simsek-Kiper, Pelin Ozlem; Alanay, Yasemin; Boduroglu, Koray; Utine, Gulen Eda (Turkish J Pediatrics, 2018)
      Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, ...

    • European Registration Process For Clinical Laboratory Geneticists In Genetic Healthcare 

      Liehr, Thomas; Carreira, Isabel M.; Aktas, Dilek; Bakker, Egbert; Rodriguez de Alba, Marta; Coviello, Domenico A.; Florentin, Lina; Scheffer, Hans; Rincic, Martina (Nature Publishing Group, 2017)
      Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, ...

    • Evaluation Of Pregnancies In 25 Families With Balanced/Unbalanced Chromosomal Translocations 

      Guleray, Naz; Yucesoy, Halise Meltem; Fadiloglu, Erdem; Tanacan, Atakan; Alikasifoglu, Mehmet; Beksac, Mehmet Sinan (2019)
      The researchers evaluated pregnancies in families with balanced/unbalanced translocations. This clinical cohort consisted of 25 pregnancies with balanced/unbalanced chromosomal translocations in family member(s) (maternal, ...

    • Expanding The Phenotypic Spectrum Of Ecel1-Related Congenital Contracture Syndromes 

      Shaaban, S.; Duzcan, F.; Yildirim, C.; Chan, W. -M.; Andrews, C.; Akarsu, N. A.; Engle, E. C. (Wiley, 2014)
      Using a combination of homozygosity mapping and whole-exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin-converting enzyme-like 1 (ECEL1) gene in a consanguineous pedigree ...

    • Genes That Affect Brain Structure And Function Identified By Rare Variant Analyses Of Mendelian Neurologic Disease 

      Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Coban; Gonzaga-Jauregui, Claudia; Erdin, Serkan; Bayram, Yavuz; Campbell, Ian M.; Hunter, Jill V.; Atik, Mehmed M.; Van Esch, Hilde; Yuan, Bo; Wiszniewski, Wojciech; Isikay, Sedat; Yesil, Gozde; Yuregir, Ozge O.; Bozdogan, Sevcan Tug; Aslan, Huseyin; Aydin, Hatip; Tos, Tulay; Aksoy, Ayse; De Vivo, Darryl C.; Jain, Preti; Geckinli, B. Bilge; Sezer, Ozlem; Gul, Davut; Durmaz, Burak; Cogulu, Ozgur; Ozkinay, Ferda; Topcu, Vehap; Candan, Sukru; Cebi, Alper Han; Ikbal, Mevlit; Gulec, Elif Yilmaz; Gezdirici, Alper; Koparir, Erkan; Ekici, Fatma; Coskun, Salih; Cicek, Salih; Karaer, Kadri; Koparir, Asuman; Duz, Mehmet Bugrahan; Kirat, Emre; Fenercioglu, Elif; Ulucan, Hakan; Seven, Mehmet; Guran, Tulay; Elcioglu, Nursel; Yildirim, Mahmut Selman; Aktas, Dilek; Alikasifoglu, Mehmet; Ture, Mehmet; Yakut, Tahsin; Overton, John D.; Yuksel, Adnan; Ozen, Mustafa; Muzny, Donna M.; Adams, David R.; Boerwinkle, Eric; Chung, Wendy K.; Gibbs, Richard A.; Lupski, James R. (Cell Press, 2015)
      Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ...

    • 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 ...

    • 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 ...