Mutation spectrum of congenital heart disease in a consanguineous Turkish population

Autor: Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

Abstract Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous f

Externí odkaz: https://doaj.org/article/39b2f4ecf67e4a60a85026ddb21fc06b

Neurogenetic analysis of childhood disintegrative disorder

Autor: Abha R. Gupta, Alexander Westphal, Daniel Y. J. Yang, Catherine A. W. Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C. Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V. Fernandez, A. Gulhan Ercan-Sencicek, Michael F. Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R. Volkmar, Kevin A. Pelphrey

Publikováno v: Molecular Autism, Vol 8, Iss 1, Pp 1-17 (2017)

Abstract Background Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Alth

Externí odkaz: https://doaj.org/article/e3a20041f8344991bd674cd9f3162b1d

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

Autor: Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, III, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders

Publikováno v: Cell Reports, Vol 9, Iss 1, Pp 16-23 (2014)

Summary: Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and

Externí odkaz: https://doaj.org/article/a6670f84f35344a18b11c3dfc99d518e

Factors influencing the prescription of add-on long-acting muscarinic antagonists in real-world asthma management: Insights from a national registry

Autor: Gemicioglu, Bilun, Gokmen, Derya, Can, Ali, Sevinc, Can, Oguzulgen, Ipek Kivilcim, Soyyigit, Sadan, Yakut, Tugce, Havlucu, Yavuz, Aydin, Omur, Buhari, Gozde Koycu, Sozener, Zeynep Celebi, Bulut, Ismet, Beyaz, Sengul, Orcen, Cihan, Ozdemir, Secil Kepil, Keren, Metin, Damadoglu, Ebru, Kalpaklioglu, Ayse Fusun, Baccioglu, Ayse, Yalim, Sumeyra Alan, Yilmaz, Insu, Kalkan, Ilkay Koca, Uysal, Mehmet Atilla, Ozgun Niksarlioglu, Elif Yelda, Kalyoncu, Ali Fuat, Karakaya, Gul, Erbay, Muge, Nayci, Sibel, Tepetam, Fatma Merve, Gelincik, Asli, Dirol, Hulya, Goksel, Ozlem, Karaoglanoglu, Selen, Erkekol, Ferda Oner, Isik, Sacide Rana, Yildiz, Fusun, Yavuz, Yasemin, Karadogan, Dilek, Bozkurt, Nurgul, Seker, Ummuhan, Basyigit, Ilknur, Baris, Serap Argun, Ucar, Elif Yilmazel, Erdogan, Tuba, Polatli, Mehmet, Ediger, Dane, Gunaydin, Fatma Esra, Turk, Murat, Pur, Leyla, Katran, Zeynep Yegin, Sekibag, Yonca, Aykac, Enes Furkan, Mungan, Dilsad, Gul, Ozcan, Cengiz, Ali, Akkurt, Bulent, Ozden, Seyma, Demir, Semra, Unal, Derya, Aslan, Ayse Feyza, Gumusburun, Reyhan, Bogatekin, Gulhan, Akten, Hatice Serpil, Inan, Sinem, Erdinc, Munevver, Ogus, Aliye Candan, Kavas, Murat, Yulug, Demet Polat, Cakmak, Mehmet Erdem, Kaya, Saltuk Bugra, Alpagat, Gulistan, Ozgur, Eylem Sercan, Uzun, Oguz, Gulen, Sule Tas, Pekbak, Gulseren, Kizilirmak, Deniz, Donmez, Halil, Arslan, Bahar, Cetin, Gulden Pacaci, Kara, Bilge Yilmaz, Dursun, Adile Berna, Karakis, Gulden Pasaoglu, Kendirlinan, Resat, Ozturk, Ayse Bilge, Simsek, Gokcen Omeroglu, Abadoglu, Oznur, Cerci, Pamir, Yucel, Taskin, Yorulmaz, Irfan, Tezcaner, Zahide Ciler, Tatar, Emel Cadalli, Suslu, Ahmet Emre, Ozer, Serdar, Dursun, Engin, Yorgancioglu, Arzu, Çelik, Gülfem Elif

Publikováno v: In Respiratory Medicine January 2025 236

A comparative experimental and numerical study on the shear and flexural mechanism of an innovative butterfly-damper

Autor: Jeong, Seong-Hoon, Ghamari, Ali, Ince, Gulhan

Publikováno v: In Journal of Constructional Steel Research November 2024 222