日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency

对儿童非先天性肾上腺增生症的深入研究:基于5例罕见原发性肾上腺功能不全病例的回顾

Cetin, Sirmen Kizilcan; Siklar, Zeynep; Ozsu, Elif; Aycan, Zehra; Berberoglu, Merih

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

17α羟化酶/17,20裂解酶缺乏症:来自土耳其大型队列的临床特征和遗传学见解

Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dündar, İsmail; Bestas, Asli; Ünal, Edip; Kocaay, Pinar; Guran, Tulay; Buyukyilmaz, Gonul; Ugurlu, Aylin Kilinc; Tosun, Buşra Gurpinar; Turan, Ihsan; Kurnaz, Erdal; Yuksel, Bilgin; Turkkahraman, Doga; Cayir, Atilla; Celmeli, Gamze; Gonc, E Nazli; Eklioğlu, Beray Selver; Cetinkaya, Semra; Yilmaz, Seniha Kiremitci; Atabek, Mehmet Emre; Buyukinan, Muammer; Arslan, Emrullah; Mengen, Eda; Cakir, Esra Deniz Papatya; Karaoglan, Murat; Hatipoglu, Nihal; Orbak, Zerrin; Ucar, Ahmet; Akyurek, Nesibe; Akbas, Emine Demet; Isik, Emregül; Kaygusuz, Sare Betul; Sutcu, Zumrut Kocabey; Seymen, Gulcan; Berberoglu, Merih

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

对隐性遗传单基因糖尿病进行系统性基因检测:儿科糖尿病诊所的横断面研究

Patel, Kashyap A; Ozbek, Mehmet N; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Atar, Muge; Colclough, Kevin; Houghton, Jayne; Johnson, Matthew B; Ellard, Sian; Flanagan, Sarah E; Cizmecioglu, Filiz; Berberoglu, Merih; Demir, Korcan; Catli, Gonul; Bas, Serpil; Akcay, Teoman; Demirbilek, Huseyin; Weedon, Michael N; Hattersley, Andrew T

Cardiac phenotype in familial partial lipodystrophy

家族性部分脂肪营养不良的心脏表型

Eldin, Abdelwahab Jalal; Akinci, Baris; da Rocha, Andre Monteiro; Meral, Rasimcan; Simsir, Ilgin Yildirim; Adiyaman, Suleyman Cem; Ozpelit, Ebru; Bhave, Nicole; Gen, Ramazan; Yurekli, Banu; Ozdemir Kutbay, Nilufer; Siklar, Zeynep; Neidert, Adam H; Hench, Rita; Tayeh, Marwan K; Innis, Jeffrey W; Jalife, Jose; Oral, Hakan; Oral, Elif A

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

染色体 9p 缺失综合征先天性高胰岛素血症关键基因组区域的精细化定位

Banerjee, Indraneel; Senniappan, Senthil; Laver, Thomas W; Caswell, Richard; Zenker, Martin; Mohnike, Klaus; Cheetham, Tim; Wakeling, Matthew N; Ismail, Dunia; Lennerz, Belinda; Splitt, Miranda; Berberoğlu, Merih; Empting, Susann; Wabitsch, Martin; Pötzsch, Simone; Shah, Pratik; Siklar, Zeynep; Verge, Charles F; Weedon, Michael N; Ellard, Sian; Hussain, Khalid; Flanagan, Sarah E

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

隐性遗传的LRBA基因突变导致自身免疫性疾病,表现为新生儿糖尿病

Johnson, Matthew B; De Franco, Elisa; Lango Allen, Hana; Al Senani, Aisha; Elbarbary, Nancy; Siklar, Zeynep; Berberoglu, Merih; Imane, Zineb; Haghighi, Alireza; Razavi, Zahra; Ullah, Irfan; Alyaarubi, Saif; Gardner, Daphne; Ellard, Sian; Hattersley, Andrew T; Flanagan, Sarah E

Multiple Presentations of LRBA Deficiency: a Single-Center Experience

LRBA 缺陷的多种表现:单中心经验

Sevgi Kostel Bal, Sule Haskologlu, Nina K Serwas, Candan Islamoglu, Caner Aytekin, Tanil Kendirli, Zarife Kuloglu, Gulsan Yavuz, Buket Dalgic, Zeynep Siklar, Aydan Kansu, Arzu Ensari, Kaan Boztug, Figen Dogu, Aydan Ikinciogullari

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

新一代测序揭示了位于内含子深处的隐蔽性ABCC8和HADH剪接创始突变,这些突变通过假外显子激活导致高胰岛素血症。

Flanagan, Sarah E; Xie, Weijia; Caswell, Richard; Damhuis, Annet; Vianey-Saban, Christine; Akcay, Teoman; Darendeliler, Feyza; Bas, Firdevs; Guven, Ayla; Siklar, Zeynep; Ocal, Gonul; Berberoglu, Merih; Murphy, Nuala; O'Sullivan, Maureen; Green, Andrew; Clayton, Peter E; Banerjee, Indraneel; Clayton, Peter T; Hussain, Khalid; Weedon, Michael N; Ellard, Sian