Bilguvar, K : rechercher sur Z-Library

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51

GENO-15IDENTIFICATION AND GENOMIC ANALYSIS OF HYPER-MUTATED AND ULTRA-MUTATED GBMS

Erson-Omay, E. Zeynep, Schultz, Nikolaus, Omay, S. Bulent, Ozduman, Koray, Harmanci, Akdes Serin, Clark, Victoria, Baranoski, Jacob, Gunel, Jennifer Moliterno, Pamir, M. Necmettin, Bilguvar, Kaya, Yas

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 27 KB

english, 2015

52

GENETICS OF INTRACRANIAL ANEURYSMS

Nahed, Brian V., Bydon, Mohamad, Ozturk, Ali K., Bilguvar, Kaya, Bayrakli, Fatih, Gunel, Murat

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 503 KB

english, 2007

53

Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

Stenman, Adam, Juhlin, Carl C., Haglund, Felix, Brown, Taylor C., Clark, Victoria E., Svahn, Fredrika, Bilguvar, Kaya, Goh, Gerald, Korah, Reju, Lifton, Richard P., Carling, Tobias

Journal:

Clinical Endocrinology

Année:

2016

Langue:

english

Fichier:

PDF, 375 KB

english, 2016

54

Response to Letter by Stahl and Felbor

Bilguvar, K., Ozturk, A. K., Gunel, M., Guclu, B.

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 716 KB

english, 2006

55

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Tüysüz, Beyhan, Ercan-Sencicek, Adife Gülhan, Canpolat, Nur, Koparır, Asuman, Yılmaz, Saliha, Kılıçaslan, Işın, Gülez, Burcu, Bilguvar, Kaya, Günel, Murat

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 4.21 MB

english, 2016

56

Linkage and Copy Number Variation Analysis of Large Families and Sibling Pairs Demonstrates Locus Heterogeneity for Familial Intracranial Aneurysms

Bilguvar, Kaya, Bayrakli, Fatih, Bayri, Yasar, Ozturk, Ali Kemal, DiLuna, Michael L., Bydon, Mohamad, Gunel, Murat

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 388 KB

english, 2007

57

Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3

Guclu, Bulent, Ozturk, Ali K., Pricola, Katie L., Bilguvar, Kaya, Shin, Dana, O???Roak, Brian J., Gunel, Murat

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 548 KB

english, 2005

58

Mutations in the Type IV Collagens, COL4A1 and COL4A2 are Associated with Intraventricular Hemorrhage in Preterm Infants

DiLuna, Michael L., Bilguvar, Kaya, Louvi, Angeliki, Bizzarro, Matthew, Bayrakli, Fatih, Bayri, Yasar, Bydon, Mohamad, Schneider, Karen, Duncan, Charles C., State, Matthew, Lifton, Richard P., Ment, L

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 574 KB

english, 2009

59

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

Juhlin, C. Christofer, Stenman, Adam, Haglund, Felix, Clark, Victoria E., Brown, Taylor C., Baranoski, Jacob, Bilguvar, Kaya, Goh, Gerald, Welander, Jenny, Svahn, Fredrika, Rubinstein, Jill C., Caramu

Journal:

Genes, Chromosomes and Cancer

Année:

2015

Langue:

english

Fichier:

PDF, 635 KB

english, 2015

60

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing

Yılmaz, Baran, Toktaş, Zafer Orkun, Akakın, Akın, Işık, Semra, Bilguvar, Kaya, Kılıç, Türker, Günel, Murat

Journal:

Journal of Neurosurgery

Année:

2016

Langue:

english

Fichier:

PDF, 2.81 MB

english, 2016

61

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Ha

Journal:

Molecular Case Studies

Année:

2016

Langue:

english

Fichier:

PDF, 1.67 MB

english, 2016

62

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Vilarinho, Sílvia, Sari, Sinan, Mazzacuva, Francesca, Bilgüvar, Kaya, Esendagli-Yilmaz, Güldal, Jain, Dhanpat, Akyol, Gülen, Dalgiç, Buket, Günel, Murat, Clayton, Peter T., Lifton, Richard P.

Journal:

Proceedings of the National Academy of Sciences

Année:

2016

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2016

63

Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies

Caglayan, Ahmet Okay, Omay, Zeynep E. Erson, Koksal, Yavuz, Coskun, Suleyman, Unal, Ekrem, Per, Huseyin, Bilguvar, Kaya, Yasuno, Katsuhito, Ostergaard, John Rosendahl, Gunel, Murat

Journal:

Journal of Biotechnology

Année:

2016

Langue:

english

Fichier:

PDF, 70 KB

english, 2016

64

Abstract 24

Timberlake, Andrew T., Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D., Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F., Sawh-Martinez, Rajendra, Pe

Journal:

Plastic and Reconstructive Surgery Global Open

Année:

2017

Langue:

english

Fichier:

PDF, 48 KB

english, 2017

65

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Kocoglu, Cemile, Gundogdu, Asli, Kocaman, Gulsen, Kahraman-Koytak, Pinar, Uluc, Kayihan, Kiziltan, Gunes, Caglayan, Ahmet Okay, Bilguvar, Kaya, Vural, Atay, Basak, A. Nazli

Journal:

Neurology: Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 75 KB

english, 2018

66

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Yilmaz, Saliha, Uludağ Alkaya, Dilek, Kasapçopur, Özgür, Barut, Kenan, Akdemir, Ekin S., Celen, Cemre, Youngblood, Mark W., Yasuno, Katsuhito, Bilguvar, Kaya, Günel, Murat, Tüysüz, Beyhan

Journal:

Molecular Genetics & Genomic Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 8.44 MB

english, 2018

67

Genetic Heterogeneity of Intracranial Aneurysm

Gunel, Murat, Ozturk, Ali K., Bydon, Mohamad, Nahed, Brian V., Guclu, Bulent, Bilguvar, Kaya, Goksu, Ethem, Bademci, Gulsah, Amar, Arun

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 182 KB

english, 2006

68

Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development

Nishimura, Sayoko, Bilgüvar, Kaya, Ishigame, Keiko, Sestan, Nenad, Günel, Murat, Louvi, Angeliki, Lei, Saobo

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 29.33 MB

english, 2015

69

Clonal Evolution Analysis of Paired Anaplastic and Well-Differentiated Thyroid Carcinomas Reveals Shared Common Ancestor

Dong, Weilai, Nicolson, Norman G., Choi, Jungmin, Barbieri, Andrea L., Kunstman, John W., Azar, Sara Abou, Knight, James, Bilguvar, Kaya, Mane, Shrikant M., Lifton, Richard P., Korah, Reju, Carling, T

Journal:

Genes, Chromosomes and Cancer

Année:

2018

Fichier:

PDF, 2.79 MB

2018

70

Clonal Evolution Analysis of Paired Anaplastic and Well-Differentiated Thyroid Carcinomas Reveals Shared Common Ancestor

Dong, Weilai, Nicolson, Norman G., Choi, Jungmin, Barbieri, Andrea L., Kunstman, John W., Azar, Sara Abou, Knight, James, Bilguvar, Kaya, Mane, Shrikant M., Lifton, Richard P., Korah, Reju, Carling, T

Journal:

Genes, Chromosomes and Cancer

Année:

2018

Langue:

english

Fichier:

PDF, 2.79 MB

english, 2018

71

141 Meningioma With Multiple Drivers: Genomic Landscape and Clinical Correlations

Tyrtova, Evgeniya, Li, Chang, Youngblood, Mark, Duran, Daniel, Montejo, Julio D, Coskun, Süleyman, Miyagishima, Danielle F, Bilguvar, Kaya, Gunel, Murat

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 84 KB

english, 2018

72

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Qian, Bastard, Paul, Liu, Zhiyong, Le Pen, JÃ©rÃ©mie, Moncada-Velez, Marcela, Chen, Jie, Ogishi, Masato, Sabli, Ira K. D., Hodeib, Stephanie, Korol, Cecilia, Rosain, JÃ©rÃ©mie, Bilguvar, Kaya,

Journal:

Année:

2020

Fichier:

PDF, 10.15 MB

2020

73

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment, David A., O'DonnellâLuria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, PingâYee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, K

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Fichier:

PDF, 2.78 MB

2020

74

Mutations and copy number alterations in diffuse gliomas are shaped by different mechanisms

Ozduman, K., Ulgen, E., Karacan, S., Gerlevik, U., Can, O., Bilguvar, K., Akyerli, C.B., Yuksel, S.K., Ersen-Danyeli, A., Tihan, T., Yakicier, C., Sezerman, O.U., Pamir, M.N.

Journal:

European Journal of Cancer

Année:

2020

Fichier:

PDF, 64 KB

2020