Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Adife Gulhan Ercan Sencicek"'
Autor:
Hande Kaymakcalan, İlyas Kaya, Nagihan Cevher Binici, Emrah Nikerel, Burcu Özbaran, Mehmet Görkem Aksoy, Seda Erbilgin, Gonca Özyurt, Noor Jahan, Didem Çelik, Kanay Yararbaş, Leyla Yalçınkaya, Sezen Köse, Sibel Durak, Adife Gulhan Ercan‐Sencicek
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalen
Externí odkaz:
https://doaj.org/article/723c7d13b4c54af78267e57826ff1ebd
Autor:
Yunan Gao, Yan Sun, Adife Gulhan Ercan-Sencicek, Justin S. King, Brynn N. Akerberg, Qing Ma, Maria I. Kontaridis, William T. Pu, Zhiqiang Lin
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 6649 (2021)
Toll-like receptors (TLRs) are a family of pattern recognition receptors (PRRs) that modulate innate immune responses and play essential roles in the pathogenesis of heart diseases. Although important, the molecular mechanisms controlling cardiac TLR
Externí odkaz:
https://doaj.org/article/f32e77e5ebb7447b97b04d4df4841358
Autor:
Adife Gulhan Ercan-Sencicek, Brynn N. Akerberg, Yunan Gao, Maria I. Kontaridis, Yan Sun, Qing Ma, Justin S. King, Zhiqiang Lin, William T. Pu
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 6649, p 6649 (2021)
Volume 22
Issue 13
International Journal of Molecular Sciences, Vol 22, Iss 6649, p 6649 (2021)
Volume 22
Issue 13
Toll-like receptors (TLRs) are a family of pattern recognition receptors (PRRs) that modulate innate immune responses and play essential roles in the pathogenesis of heart diseases. Although important, the molecular mechanisms controlling cardiac TLR
Autor:
Mehmet Sar, Kaya Bilguvar, Beyhan Tüysüz, Rüya Meriç, Yasin Şahin, Adife Gulhan Ercan-Sencicek, Dilek Uludağ Alkaya
Publikováno v:
Clinical dysmorphology. 30(1)
Autor:
Burcu Gülez, Nur Canpolat, Adife Gulhan Ercan-Sencicek, Asuman Koparir, Kaya Bilguvar, Beyhan Tüysüz, Isin Kilicaslan, Saliha Yilmaz, Murat Gunel
Publikováno v:
American Journal of Medical Genetics Part A. 170:1187-1195
Mucolipidosis IIIalpha/beta (MLIIIalpha/beta) is a rare lysosomal storage disorder characterized by childhood onset of flexion contractures of fingers, joint stiffness in the shoulders, hips, and knees, and mild short stature. Recessive mutations in
Autor:
Tanyeri Barak, Ketu Mishra Gorur, Murat Gunel, Adife Gulhan Ercan Sencicek, Danielle F Miyagishima, Kaya Bilguvar, Octavian Henegariu
Publikováno v:
Neurosurgery. 66:310-303
Autor:
Sengul Kavak Bayrakli, Adife Gulhan Ercan-Sencicek, Murat Gunel, İlter Güney, Tufan Cankaya, Kaya Bilguvar, Fatih Bayrakli, D Ceyhan, Matthew W. State, Shrikant Mane
Publikováno v:
Clinical Genetics. 77:499-502
Autor:
Fuki M. Hisama, Matthew W. State, Adife Gulhan Ercan-Sencicek, Carolyn M. Drazinic, Laura M. Gault, Joseph F. Cubells, Mazin B. Qumsiyeh, Norma J. Nowak
Publikováno v:
American Journal of Medical Genetics Part A. :282-289
Array-based copy number analysis has recently emerged as a rapid means of mapping complex and/or subtle chromosomal abnormalities. We have compared two such techniques, using bacterial artificial chromosome (BAC) and single nucleotide polymorphism (S
Autor:
Dogan Ceyhan, Shrikant Mane, İlter Güney, Christopher E. Mason, Yasar Bayri, Tufan Cankaya, Matthew W. State, Fatih Bayrakli, Sengul Kavak Bayrakli, Adife Gulhan Ercan-Sencicek, Murat Gunel, Kaya Bilguvar
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 16(12)
Paired box gene 6 (PAX6) is the causative gene of aniridia. it is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11 p13 and contains 14 exons. It is expressed ma
Autor:
John D. Murdoch, Lambertus Klei, Mark J. Daly, Richard P. Lifton, Jeremy M. Baskin, Abha R. Gupta, Hongyu Zhao, Michelle Pirruccello, Matthew W. State, Li Liu, Pietro De Camilli, Hyo Jung Kang, Murim Choi, Feng Cheng, Benjamin M. Neale, Thomas V. Fernandez, Nenad Sestan, Daniel Franjic, Adife Gulhan Ercan-Sencicek
Publikováno v:
Molecular Autism
Background Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex r