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İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD
İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD
İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD, Temel Tıp Bilimleri Binası, 2. Bodrum. Millet Caddesi, Fatih/İstanbul
Toplam kullanılan BAP Kaynağı: 38.330,00 TL
Referans merkezi olarak hizmet verildiğinden Klinik
Genetik alanında sık görülen genetik hastalıkların yanı sıra ender görülen
genetik hastalıklar için de pek çok dış merkezden hastalar AD polikliniğine gönderilmektedir.
Bu hastalar klinik değerlendirme sonrasında özgün testler için yönlendirilmekte
ve kesin tanıya ulaşılmaya çalışılmaktadır. Kesin tanı ailelere verilecek
genetik danışmayı yönlendirmekte ve prenatal tanıya imkan sağlamaktadır. Sık
görülen genetik hastalıklar için de uygun genetik testler istenmekte ve aileler
genetik danışma ile bilgilendirilmektedir. İstanbul dışı birçok merkezden
gönderilen uzmanlık öğrencileri klinik genetik rotasyonlarını polikliniğimizde
yapmaktadır.
Sitogenetik ve moleküler sitogenetik laboratuarında
farklı dokularda (Periferik kan, deri, gonad, ve hematolojik malinitelerde
kemik iliği) hücre kültürleri, prometafaz/metafazlarda çeşitli bantlama
teknikleri kullanılarak yüksek çözünürlükte kromozom analizleri yapılmaktadır.
Moleküler sitogenetik (FISH ve a-CGH/mikroarray) yöntemlerin başarı ile
uygulanması pek çok dış merkezde saptanan kompleks kromozom anomalilerinin
aydınlatılması amacıyla laboratuarımıza gönderilmesine yol açmaktadır. Prenatal
tanı amacıyla 3 doku örneği de (amniotik sıvı, korion villusları ve fetal kan)
laboratuarımızda başarı ile çalışılmaktadır. Bu alandaki yüksek deneyim
nedeniyle Türkiye?deki pek çok merkeze danışmanlık verilmekte ve yeni
elemanların yetişmesine yardımcı olunmaktadır.
Moleküler laboratuarımızda, sık görülen genetik
hastalıkların yanı sıra, Türkiye?de hiç yapılmayan ya da çok az merkezde
yapılan bazı genetik hastalıkların post ve prenatal tanısı gerçekleştirilmektedir.
Çok ender görülen bazı genetik sendromlarda yeni genlerin ve mutasyonların
tanımlanmasına yönelik araştırma projeleri yürütülmektedir.
İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD, Temel Tıp Bilimleri Binası, 2. Bodrum. Millet Caddesi, Fatih/İstanbul
Toplam kullanılan BAP Kaynağı: 38.330,00 TL
Istanbul University, Istanbul Medical Faculty, Medical Genetics Department
İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD, Temel Tıp Bilimleri Binası, 2. Bodrum. Millet Caddesi, Fatih/İstanbul
Total resource (BAP): 38.330,00 TL
On a daily basis, the
Department of Medical Genetics receives numerous referrals from national and
international clinics on a wide variety of genetic diseases. These cases are directed to indicative
specialized tests to secure a diagnosis.
With the determination of a final diagnosis, the Department of Medical
Genetics staff guides the genetic counseling that is provided to families and,
when required, enables the opportunity for families to obtain a prenatal
diagnosis. Some students from other medical
faculties throughout the Republic of Turkey perform a portion of their
rotations in the Department of Medical Genetics at Istanbul University.
Peripheric blood,
skin and gonad biopsy samples are investigated by means of tissue culturing
followed by high resolution banding techniques on promethaphase/methaphase
chromosomes. Complex chromosomal
abnormalities, elements of which are referred from external centers, are
investigated by molecular cytogenetic tests in order to increase the resolution
of the analysis. The cytogenetic
laboratory within the Department of Medical Genetics is highly experienced in
conducting specialized molecular cytogenetic tests. Prenatal diagnostic investigations are conducted
using amniotic fluid, corion villus samples and fetal blood samples. The Cytogenetic and Molecular Cytogenetic
Laboratory provides consultancy to national and international clinical
centers. It also assists in providing
hands-on training to new students in the field.
The Molecular Genetics Laboratory within the Department of Medical Genetics at Istanbul University is one of only a handful of laboratories in the Republic of Turkey with the capability to perform post- and pre-natal genetic diagnosis. Research projects focused on the identification of new genes related to rare genetic syndromes, as well as disease-causing mutations, is also undertaken at the Molecular Genetics Laboratory. A particular emphasis of study is an ongoing investigation considering new causative genes related to mental retardation.
İ:Ü. İstanbul Tıp Fakültesi, Tıbbi Genetik AD, Temel Tıp Bilimleri Binası, 2. Bodrum. Millet Caddesi, Fatih/İstanbul
Total resource (BAP): 38.330,00 TL
pp12pp
Cihaz Adı : ARAŞTIRMA MİKROSKOBU
Marka : NİKON
Model : BX61
Teknik Özellik : KROMOZOM BANTLAMA KONTROLLERİ VE KROMOZOM ANALİZİNDE KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : FLORESAN ATAÇMANLI FISH MİKROSKOBU
Marka : NİKON
Model : E600
Teknik Özellik : FISH SONUÇLARINI ANALİZ VE GÖRÜNTÜLEMEDE KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : DERİN DONDURUCULU BUZDOLABI
Marka : BOSCH
Model : -
Teknik Özellik : GENETİK LABORATUVARLARINDA KULLANILAN KİT VE KİMYASALLARIN UYGUN ISIDA KORUNMASI AMACI İLE KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : NEM ALMA CİHAZI
Marka : HAVAK
Model : -
Teknik Özellik : SİTOGENETİK VE MOLEKÜLER SİTOGENETİK ÇALIŞMALARIN YAPILDIĞI ALANIN NEM STANDARTI OLUŞTURMADA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : İNVERTED MİKROSKOP
Marka : NİKON
Model : TMS
Teknik Özellik : HÜCRE VE KROMOZOMLARIN BOYANMAMIŞ HALDE İKEN MİKTAR VE KALİTESİNİ ÖLÇMEK AMAÇLI KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : ISITICI TABLA
Marka : STUART
Model : SH1D
Teknik Özellik : DİREKT PREPARASYON YAPIMINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : MİKROSANTRİFÜJ
Marka : HERAUS
Model : LABOFUGE-200
Teknik Özellik : MİKROSANTRİFÜJ TÜPLERİNİN ÇEVRİLMESİNDE KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : HİBRİDİZASYON CİHAZI
Marka : DAKO
Model : S2451
Teknik Özellik : MOLEKÜLER SİTOGENETİK ÇALIŞMALARDA FISH DENATÜRASYON VE HİBRİDİZASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : SU BANYOSU
Marka : GFL
Model : -
Teknik Özellik : SİTOGENETİK VE MOLEKÜLER SİTOGENETİK ÇALIŞMALARDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : ÇALKALAMALI SU BANYOSU
Marka : GFL
Model : 1083
Teknik Özellik : HÜCRE KÜLTÜR ÇALIŞMALARINDA VE FISH ÇALIŞMALARINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : KURU ETÜV
Marka : NÜVE
Model : EN-055
Teknik Özellik : KISA SÜRELİ HÜCRE KÜLTÜRLERİNİN İNKÜBASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : KURU ETÜV
Marka : JOUAN
Model : -
Teknik Özellik : KISA SÜRELİ HÜCRE KÜLTÜRLERİNİN İNKÜBASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : İNVERTED MİKROSKOP
Marka : NİKON
Model : TMS
Teknik Özellik : HÜCRE VE KROMOZOMLARIN BOYANMAMIŞ HALDE İKEN MİKTAR VE KALİTESİNİ ÖLÇMEK AMAÇLI KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : KARBONDİOKSİTLİ ETÜV
Marka : SANYO
Model : -
Teknik Özellik : UZUN SÜRELİ HÜCRE KÜLTÜRLERİNİN İNKÜBASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : KARBONDİOKSİTLİ ETÜV
Marka : HERAUS
Model : FUNCTION LINE
Teknik Özellik : UZUN SÜRELİ HÜCRE KÜLTÜRLERİNİN İNKÜBASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : KARBONDİOKSİTLİ ETÜV
Marka : HERAUS
Model : -
Teknik Özellik : UZUN SÜRELİ HÜCRE KÜLTÜRLERİNİN İNKÜBASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : STERİL ÇALIŞMA KABİNİ
Marka : 2LFVH
Model : 201
Teknik Özellik : DOKU KÜLTÜRLERİ HAZIRLANIRKEN STERİL ORTAM OLUŞTURULMASI AMACI İLE KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : OTOKLAV
Marka : NUVE
Model : OTO-32
Teknik Özellik : TESTLERDE KULLANILAN ALET VE SIVILARIN STERİLİZASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : DİSTİLE SU CİHAZI
Marka : NÜVE
Model : NS312
Teknik Özellik : SU DİSTİLASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : ISITICILI MAGNETIK KARIŞTIRICILAR
Marka : BIOMETRA
Model : WT17
Teknik Özellik : MOLEKÜLER TESTLERİN UYGULAMASINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : BUZ MAKİNASI
Marka : EURFRIGOR
Model : -
Teknik Özellik : MOLEKÜLER TESTLERİN YAPIMINDA KULLANILAN BUZ YAPIMINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : VAKUM POMPASI
Marka : ROCKER
Model : 500
Teknik Özellik : -
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : DERİN DONDURUCULU BUZDOLABI
Marka : SAMSUNG
Model : COOLn'COOL
Teknik Özellik : KİT VE KİMYASAL MALZEMELERİN SAKLANMASINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : DiğerCihaz Adı : DERİN DONDURUCULU BUZDOLABI
Marka : SAMSUNG
Model : COOLn'COOL
Teknik Özellik : ARAŞTIRMALARDA KULLANILAN KİT VE KİMYASALLARIN SAKLANMASINDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : BAPCihaz Adı : OTOMATİK DNA İZOLASYON CİHAZI
Marka : ROCHE
Model : MAGNAPURE
Teknik Özellik : OTOMATİK DNA VE RNA İZOLASYONUNDA KULLANILIR
Miktar : 1
Cihaz Kaynağı : Firma
- Makale & Yayın (73)
- Sanayi İşbirliği (0)
- Patent (0)
- Dış Kaynaklı Çalışma (2)
- Faydalı Model (0)
- Ticarileşme (0)
- Proje (12)
pp123pp
- Adı : Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Açıklama : BACKGROUND: Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and hypogenitalism. In addition, renal cysts and other anomalies of the kidney and urinary tract can be present. To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS. The vast genetic heterogeneity of BBS renders molecular genetic diagnosis difficult in terms of the time and cost required to screen all 204 coding exons. METHOD: Here, the use of genome-wide homozygosity mapping as a tool to identify homozygous segments at known BBS loci, in BBS individuals from inbred and outbred background, is reported. RESULTS: In a worldwide cohort of 45 families, causative homozygous mutations in 20 families were identified via direct exon sequencing. Eleven of these mutations were novel, thereby increasing the number of known BBS mutations by 5% (11/218). CONCLUSIONS: Thus, in the presence of extreme genetic locus heterogeneity, homozygosity mapping provides a valuable approach to the molecular genetic diagnosis of BBS and will facilitate the discovery of novel pathogenic mutations.
Ekip : Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F - Adı : Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Açıklama : Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. We performed SOS1, RAF1, BRAF, MEK1, and MEK2 mutation analysis in a cohort of 102 PTPN11- and KRAS-negative NS patients and found pathogenic SOS1 mutations in 10, RAF1 mutations in 4, and BRAF mutations in 2 patients. Three novel SOS1 mutations were found. One was classified as a rare benign variant and the other remains unclassified. We confirm a high prevalence of pulmonic stenosis and ectodermal abnormalities in SOS1-positive patients. Three patients with SOS1 mutations presented with tumors (embryonal rhabdomyosarcoma, Sertoli cell testis tumor, and granular cell tumors of the skin). One patient with a RAF1 mutation had a lesion suggestive for a giant cell tumor. This is the first report describing different tumor types in NS patients with germ line SOS1 mutations.
Ekip : Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E. - Adı : .A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.
Açıklama : We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself. This case is worth mentioning in the sense that it bears two de novo rearrangements with five breakpoints. The correlation between the possible disrupted genes within the given breakpoints and the phenotype of the case will be discussed
Ekip : Karaman B, Rosti RO, Yilmaz K, Oztürk H, Kayserili H, Başaran S. - Adı : Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Açıklama : Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin.
Ekip : Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM - Adı : LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Açıklama : Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling.
Ekip : Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. - Adı : Li-Fraumeni syndrome in a Turkish family.
Açıklama : Li-Fraumeni syndrome (LFS) is one of the familial cancers characterized by different tumors and hereditary TP53 mutations. The adrenocortical carcinoma (ACC) association with acute leukemia is unusual in childhood, even in LFS. The authors here present a family with pR337P mutation in TP53 gene who had a child with acute lymphoblastic leukemia (ALL) and associated adrenocortical carcinoma as a case 1 and his cousin with brain tumor as a case 2. A hereditary TP53 mutation supported the diagnosis of LFS in this family. The patients had many difficulties in treatment strategies and succumbed to death. The availability of a reliable molecular marker to detect the R337P TP53 mutation allows the rapid identification of carriers in families that have a child with ACC. Once identified, carriers could be screened for early detection of ACC by imaging and endocrine studies and should be given psychological support to prevent anxiety for death. Whether early detection of ACC will reduce the mortality in these patients remains to be determined.
Ekip : Karakas Z, Tugcu D, Unuvar A, Atay D, Akcay A, Gedik H, Kayserili H, Dogan O, Anak S, Devecioglu O. - Adı : Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Açıklama : A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.
Ekip : Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. - Adı : Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Açıklama : BACKGROUND: Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised. METHODS: In 120 patients with severe NPHP-AC phenotypes, five pools of genomic DNA with 24 patients each were prepared which were used as templates in order to PCR amplify all 376 exons of 18 NPHP-AC genes (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, TMEM67, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, TTC21B, MKS1, and XPNPEP3). PCR products were then subjected to MPR on an Illumina Genome-Analyser and mutations were subsequently assigned to their respective mutation carrier via CEL I endonuclease based heteroduplex screening and confirmed by Sanger sequencing. RESULTS: For proof of principle, DNA from patients with known mutations was used and detection of 22 out of 24 different alleles (92% sensitivity) was demonstrated. MPR led to the molecular diagnosis in 30/120 patients (25%) and 54 pathogenic mutations (27 novel) were identified in seven different NPHP-AC genes. Additionally, in 24 patients only single heterozygous variants of unknown significance were found. CONCLUSIONS: The combined approach of DNA pooling followed by MPR strongly facilitates mutation analysis in broadly heterogeneous single gene disorders. The lack of mutations in 75% of patients in this cohort indicates further extensive heterogeneity in NPHP-AC.
Ekip : Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. - Adı : CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Açıklama : Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.
Ekip : Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. - Adı : A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Açıklama : Recessive mutations in COL11A2 (collagen, type XI, alpha 2), are responsible for otospondylomegaepiphyseal dysplasia (OSMED) and non-syndromic hearing loss while dominant mutations are associated with Stickler type III, isolated cleft palate, Robin sequence, non-ophthalmic Stickler syndrome, early onset osteoarthritis and autosomal dominant hearing loss. We describe here the clinical findings of two Turkish cousins with OSMED carrying a novel homozygous truncating mutation in exon 38 of COL11A2 gene, c.2763delT, identified on cDNA and confirmed at gDNA. This mutation is located on triple helix repeat domain of the collagen alpha-2(XI) chain, where the majority of the previously identified mutations are located. Real-time RT-PCR experiment provided that mutated transcript does not decay completely. Although our analysis displays the partial survival of the mutant transcript from blood tissue, not from cartilage, we propose that this mechanism may play an important role on the variable expressivity of the heterozygous COL11A2 gene mutations.
Ekip : Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. - Adı : TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Açıklama : Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders. Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. Moreover, although resequencing of TTC21B in a large, clinically diverse ciliopathy cohort and matched controls showed a similar frequency of rare changes, in vivo and in vitro evaluations showed a significant enrichment of pathogenic alleles in cases (P < 0.003), suggesting that TTC21B contributes pathogenic alleles to ~5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes and highlight how saturated resequencing followed by functional analysis of all variants informs the genetic architecture of inherited disorders.
Ekip : Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program, Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. - Adı : Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Açıklama : OBJECTIVE: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease. METHODS: We focused recruitment toward multiplex consanguineous families, ascertained 30 patients from 19 consanguineous families, and analyzed clinical features together with brain imaging. RESULTS: We identified 3 major CCA classes, including hypoplasia, hypoplasia with dysplasia, and complete agenesis. Affected individuals within a given multiplex family usually displayed the same variant of the class of abnormality and they always displayed the same class of abnormality within each family, or they displayed complete agenesis. The system was validated among a second cohort of 10 sporadic patients with CCA. CONCLUSIONS: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.
Ekip : Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. - Adı : Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Açıklama : OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. MAIN OUTCOME MEASURES: Referring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. RESULTS: Of the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations. CONCLUSIONS: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.
Ekip : Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. - Adı : Down syndrome diagnosis based on Gabor Wavelet Transform.
Açıklama : Down syndrome is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It has different facial symptoms. These symptoms contain distinctive information for face recognition. In this study, a novel method is developed to distinguish Down Syndrome in a custom face database. Gabor Wavelet Transform (GWT) is used as a feature extraction method. Dimension reduction is performed with Principal Component Analysis (PCA). New dimension which has most valuable information is derived with Linear Discriminant Analysis (LDA). Classification process is implemented with k-nearest neighbor (kNN) and Support Vector Machine (SVM) methods. The classification accuracy is carried out 96% and 97,34% with kNN and SVM methods, respectively. Different from the studies related with the Down Sydrome, feature selection process is applied before PCA according to the correlation between components of feature vectors. Best results are achieved with euclidean distance metric for kNN and linear kernel type for SVM. In this way, we developed an efficient system to recognize Down syndrome.
Ekip : Saraydemir S, Taşpınar N, Eroğul O, Kayserili H, Dinçkan N. - Adı : Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.
Açıklama : We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C?>?G (p.Q225E) mutation in ALX4 gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous ALX4 mutations, and to the phenotypes in patients with mutations in other ALX genes.
Ekip : Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. - Adı : Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
Açıklama : 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 malformations. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this malformation syndrome to chromosomal region 21q22.3. Direct sequencing of RIPK4 (receptor-interacting serine/threonine kinase protein 4) showed a homozygous transversion (c.362T>A) that causes substitution of a conserved isoleucine with asparagine at amino acid position 121 (p.Ile121Asn) in the serine/threonine kinase domain of the protein. Additional pathogenic mutations-a homozygous transition (c.551C>T) that leads to a missense substitution (p.Thr184Ile) at a conserved position and a homozygous one base-pair insertion mutation (c.777_778insA) predicted to lead to a premature stop codon (p.Arg260ThrfsX14) within the kinase domain-were observed in two families. Molecular modeling of the kinase domain showed that both the Ile121 and Thr184 positions are critical for the protein's stability and kinase activity. Luciferase reporter assays also demonstrated that these mutations are critical for the catalytic activity of RIPK4. RIPK4 mediates activation of the nuclear factor-?B (NF-?B) signaling pathway and is required for keratinocyte differentiation and craniofacial and limb development. The phenotype of Ripk4(-/-) mice is consistent with the human phenotype presented herein. Additionally, the spectrum of malformations observed in the presented families is similar, but less severe than the conserved helix-loop-helix ubiquitous kinase (CHUK)-deficient human fetus phenotype; known as Cocoon syndrome; this similarity indicates that RIPK4 and CHUK might function via closely related pathways to promote keratinocyte differentiation and epithelial growth.
Ekip : Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. - Adı : A large duplication involving the IHH locus mimics acrocallosal syndrome.
Açıklama : Indian hedgehog (Ihh) signaling is a major determinant of various processes during embryonic development and has a pivotal role in embryonic skeletal development. A specific spatial and temporal expression of Ihh within the developing limb buds is essential for accurate digit outgrowth and correct digit number. Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH locus have recently been described in patients with mild syndactyly and craniosynostosis. In contrast, a ~600-kb deletion 5' of IHH in the doublefoot mouse mutant (Dbf) leads to severe polydactyly without craniosynostosis, but with craniofacial dysmorphism. We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay. Single-nucleotide polymorphism (SNP) array copy number analysis identified a ~900-kb duplication of the IHH locus, which was confirmed by an independent quantitative method. A fetus from a second pregnancy of the mother by a different spouse showed similar craniofacial and limb malformations and the same duplication of the IHH-locus. We defined the exact breakpoints and showed that the duplications are identical tandem duplications in both sibs. No copy number changes were observed in the healthy mother. To our knowledge, this is the first report of a human phenotype similar to the Dbf mutant and strikingly overlapping with ACS that is caused by a copy number variation involving the IHH locus on chromosome 2q35.
Ekip : Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. - Adı : Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
Açıklama : Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates.
Ekip : Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramad?a DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. - Adı : Candidate locus analysis for PHACE syndrome.
Açıklama : PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5 kb deletion approximately 80 kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.
Ekip : Mitchell S, Siegel DH, Shieh JT, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. - Adı : OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Açıklama : BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans. METHODS AND RESULTS: This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly, suggesting a genetic relationship between anophthalmia and otocephaly. OTX2, a known microphthalmia locus, was screened in this family and a frameshifting mutation was found. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. Because OTX2 mutations may not be sufficient to cause otocephaly, the study assayed the potential of otx2 to modify craniofacial phenotypes in the context of known otocephaly gene suppression in vivo. It was found that otx2 can interact genetically with pgap1, prrx1, and msx1 to exacerbate mandibular and midline defects during zebrafish development. However, sequencing of these loci in the OTX2-positive families did not unearth likely pathogenic lesions, suggesting further genetic heterogeneity and complexity. CONCLUSION: Identification of OTX2 involvement in otocephaly/dysgnathia in humans, even if loss of function mutations at this locus does not sufficiently explain the complex anatomical defects of these patients, suggests the requirement for a second genetic hit. Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish. This study highlights the combined utility of genetics and functional approaches to dissect both the regulatory pathways that govern craniofacial development and the genetics of this disease group.
Ekip : Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. - Adı : Developing a policy for paediatric biobanks: principles for good practice.
Ekip : Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L, Vermeulen E, Salvaterra E, Tibben A, Dierickx K - Adı : Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Açıklama : Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.
- Adı : Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
Açıklama : Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis.
Ekip : Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. - Adı : Cantú syndrome is caused by mutations in ABCC9.
Açıklama : Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9 in all probands. With the inclusion of the remaining cohort of ten individuals with Cantú syndrome, a total of eleven mutations in ABCC9 were found. The de novo occurrence in all six simplex cases in our cohort substantiates the presence of a dominant disease mechanism. All mutations were missense, and several mutations affect Arg1154. This mutation hot spot lies within the second type 1 transmembrane region of this ATP-binding cassette transporter protein, which may suggest an activating mutation. ABCC9 encodes the sulfonylurea receptor (SUR) that forms ATP-sensitive potassium channels (K(ATP) channels) originally shown in cardiac, skeletal, and smooth muscle. Previously, loss-of-function mutations in this gene have been associated with idiopathic dilated cardiomyopathy type 10 (CMD10). These findings identify the genetic basis of Cantú syndrome and suggest that this is a new member of the potassium channelopathies
Ekip : van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. - Adı : Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography.
Açıklama : BACKGROUND: Sudden death risk in Williams syndrome (WS) patients has been shown to be 25-100 times higher than in the general population. This study aims to detect coronary artery anomalies and myocardial perfusion defects in WS patients using noninvasive diagnostic methods. METHODS: This study features 38 patients diagnosed with WS. In addition to physical examination, electrocardiography, and echocardiography, computed tomography (CT) angiography and rest/dipyridamole stress technetium-99m sestamibi ((99m)Tc-sestamibi) single photon emission computed tomography (SPECT) myocardial perfusion scintigraphy (MPS) were performed. RESULTS: Twenty-one (55%) patients were male; 17 (45%) were female. The average patient age was 12 ± 5 years (2.5-26 years); the average follow-up period was 7.2 ± 4.2 years (6 months-18 years). Cardiovascular abnormalities were found in 89% of patients, the most common one being supravalvar aortic stenosis (SVAS). CT angiography revealed coronary anomalies in 10 (26%) patients, the most common ones being ectasia of the left main coronary artery and proximal right coronary artery as well as myocardial bridging. SVAS was present in 80% of patients with coronary artery anomalies. (99m)Tc-sestamibi SPECT MPS revealed findings possibly consistent with myocardial ischemia in 29% of patients, and ischemia in 7 out of 10 patients (70%) with coronary anomalies shown on CT angiography (p = 0.03). CONCLUSIONS: Coronary artery abnormalities are relatively common in WS patients and are often accompanied by SVAS. CT angiography and dipyridamole (99m)Tc-sestamibi SPECT MPS seem to be less invasive methods of detecting coronary artery anomalies and myocardial perfusion defects in WS patients.
Ekip : Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Dursun M, Yilmaz E, Ergul N, Unal SN, Dindar A.
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| CRANIRARE-2, | Kraniyofasiyal malformasyonlara klinik ve genetik yaklaşım 2 | Prof. Dr. Bernd Wollnik, Prof. Dr. StanislasLionet, Prof. Dr.DagmarWieczorek ve Prof. Dr. Nurten Akarsu |
| Kraniyofasiyal malformasyonlara klinik ve genetik yaklaşım | Uluslararası (CRANIRARE Project, SBAG-ERA-NET) projesi | Prof. Dr. Bernd Wollnik, Prof. Dr. StanislasLionet, Prof. Dr.DagmarWieczorek ve Prof. Dr. Nurten Akarsu |
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| Proje (BAP) | Primer Ovaryen Yetmezliğinde Genetik Etiyoloji | Prof. Dr. Engin Oral | Prof.Dr.Z.Oya Uyguner, Doç. Dr. Birsen Karaman, Dr. Güven Toksoy, Prof. Dr. Seher Başaran |
| Proje (BAP) | Hiyalin Fibromatozis Sendromunun Doğal Seyri (Klinik Ve Hücresel Düzeyde) | Yürütücü: Doç. Dr. Birsen Karaman | Prof. Dr. Seher Başaran, Prof. Dr. Hülya Kayserili, Prof.Dr.Z.Oya Uyguner, Uzm.Bio. N.Bilge Satkın |
| Proje (BAP) | Multipl Konjenital Anomali/Mental Retardasyonlu Olgularda Etyolojinin High Resolution Bantlama Tekniği İle İntersisyel Dengesizliklerin ve ve Fluorescence in situ Hybridization Tekniği İle Subtelomerik Düzenlenmelerin Araştırılması | Yürütücü: Prof. Dr. Hülya Kayserili | Prof. Dr. Seher Başaran, Doç. Dr. Birsen Karaman, Prof. Dr. Z. Oya Uyguner |
| Proje (BAP) | Hiyalin Fibromatozis Sendromunun Doğal Seyri (Klinik Ve Hücresel Düzeyde) | Yürütücü: Doç. Dr. Seher Başaran | Doç.Dr.Birsen Karaman, Prof. Dr. Hülya Kayserili, Prof.Dr.Z.Oya Uyguner, Uzm.Bio. N.Bilge Satkın |
| Proje (BAP) | Dengesiz genomik yeniden düzenlenmelerin tanısında SNP mikro-array teknolojisinin katkıları | Yürütücü: Doç. Dr. Birsen Karaman | Prof. Dr. Seher Başaran, Prof. Dr. Hülya Kayserili, Prof.Dr.Z.Oya Uyguner, Uzm.Bio. N.Bilge Satkın, Uzm.Bio.Selvi Ergin |
| Proje (BAP) | Mikroskobik olarak dengeli translokasyon sapatanan klinik olarak etkilenmiş olgularda submikroskobik yeniden düzenlenmelerin SNP/CNV array teknolojisi ile araştırılması | Yürütücü: Prof. Dr. Seher Başaran | Doç.Dr.Birsen Karaman, Prof. Dr. Hülya Kayserili, Prof.Dr.Z.Oya Uyguner, Uzm.Bio. N.Bilge Satkın, Uzm.Bio.Selvi Ergin |
| Proje (BAP) | Fetal Merkezi Sinir Sistemi Anomalilerinde Submikroskobik Kromozom Anomalilerinin Moleküler Tekniklerle Araştırılması | Yürütücü: Doç. Dr. Birsen Karaman | Prof. Dr. seher Başaran, Prof. Dr. Hülya Kayserili, Prof. Dr. Oya Uyguner, Uz. Bio. Selvi Ergin |
| Proje (BAP) | Non-Spesifik Mental Retardasyonlu Olgularda submikroskobik Mikrodelesyon/Mikroduplikasyonların Array Teknolojisi ile Araştırılması | Yürütücü: Prof. Dr. Hülya Kayserili | Prof. Dr. Seher Başaran, Doç. Dr. Birsen Karaman, Prof. Dr. Z. Oya Uyguner |
| Proje (BAP) | Bazex DupreChristolsendromunda ait genin klonlanması | Yürütücü: Prof. Dr. Hülya Kayserili | Prof. Dr. seher Başaran, Doç. Dr. Birsen Karaman, Prof. Dr. Oya Uyguner, Dr. Rasim Özgür Rosti |
| Proje (TÜBİTAK) | Kalıtsal Mental retardasyonda moleküler analizler: Bağlantı analizi ve aday gen taraması | Yürütücü: Prof. Dr. Z. Oya Uyguner | Prof. Dr. seher Başaran, Doç. Dr. Birsen Karaman, Prof. Dr. Hülya Kayserili, Prof. Dr. Oya Uyguner, Dr. Güven Toksoy |
| Proje (BAP) | 13. Kromozomun q12.2-q13 Bölgesinin Moebius Sendromu ile Olan İlişkisinin Araştırılması | Yürütücü: Prof. dr. Seher Başaran | Doç. Dr. Birsen Karaman, Dr. Abdullah Üzümcü, Prof. Dr. Hülya Kayserili, Prof. Dr. Oya Uyguner, Dr. Güven Toksoy |
| Proje (BAP) | Multiple Patolojik Ultrason Bulgusu Saptanan Fetuslarda Kromozomların Subtelomerik Bölgelerinin Multiprobe Telomer Sistem ve MLPA Yöntemleri ile Karşılaştırmalı Olarak Araştırılması | Yürütücü: Doç. Dr. Birsen Karaman | Prof. Dr. Seher Başaran, Prof. Dr. Hülya Kayserili, Prof. Dr. Oya Uyguner, Dr. Güven Toksoy |
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