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

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods

利用新一代测序和多重连接依赖性探针扩增方法分析2009名伊朗神经肌肉疾病患者的遗传谱

Molaei, Negar; Alagha, Parnian; Khanbazi, Ali; Beheshtian, Maryam; Ahangari, Fatemeh; Dehdahsi, Shima; Fadaee, Mahsa; Ashki, Mehri; Ghaderi, Zhila; Elahi, Zohreh; Vazehan, Raheleh; Parsimehr, Elham; Nouri, Maryam Mozaffarpour; Saei, Parishad; Noudehi, Khadijeh; Fatehi, Fatemeh; Najafabadi, Shima Zamanian; Abolhassani, Ayda; Afroozan, Fariba; Yazdan, Hilda; Kelishomi, Masoumeh Akbari; Azad, Maryam; Parvini, Farshid; Kassaee, Seyed Mehrdad; Ramezani, Mahtab; Zemorshidi, Fariba; Salimipour, Houman; Abdi, Siamak; Bakhshandeh, MohammadKazem; Fayyazi, Afshin; Zamani, Gholamreza; Ashrafi, Mahmoud Reza; Jamali, Payman; Sarraf, Payam; Okhovat, Ali Asghar; Ashtiani, Bahram Haghi; Fatehi, Farzad; Karimzadeh, Parvaneh; Nafissi, Shahriar; Kahrizi, Kimia; Kariminejad, Ariana; Najmabadi, Hossein

BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients

BCKDK基因突变是一种罕见疾病,可导致神经发育迟缓、自闭症和癫痫共病:四例病例系列研究

Karimzadeh, Parvaneh; Kachuei, Maryam; Najmabadi, Hossein; Keramatipour, Mohammad; Rezazadeh, Mohammad; Tasharrofi, Behnoosh; KamaliTabar, Fatemeh

A Novel Candidate Gene MACF1 is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family

伊朗一个家族中发现一种新的候选基因MACF1与常染色体显性非综合征性听力损失相关

Bazazzadegan, Niloofar; Babanejad, Mojgan; Banihashemi, Susan; Arzhangi, Sanaz; Kahrizi, Kimia; Booth, Kevin Ta; Najmabadi, Hossein

Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population

伊朗人群线粒体基因组SNP的单倍群结构和遗传变异分析

Ghasemi, Masoumeh; Mohseni, Marzieh; Fattahi, Zohreh; Edizadeh, Masoud; Beheshtian, Maryam; Keshavarzi, Fatemeh; Jalalvand, Khadijeh; Omrani, Mohammadamin; Khanbazi, Ali; Riazalhosseini, Yasser; Akbari, Mohammad Reza; Kahrizi, Kimia; Najmabadi, Hossein

First Iranian Family with a Novel Missense Variant in MYO9B Gene Causing Charcot-Marie-Tooth Disease

伊朗首例携带MYO9B基因新型错义变异导致夏科-马里-图斯病的家族

Beheshtian, Maryam; Mozaffarpour Nouri, Maryam; Ahangari, Fatemeh; Makvand, Mina; Salmani, Banafsheh; Kariminejad, Ariana; Najmabadi, Hossein; Nafissi, Shahriar

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss

拓展与NIN基因相关的临床表型;报告一例身材矮小、小头畸形和听力丧失的患者

Zamanian Najafabadi, Shima; Ghorbanoghli, Zeinab; Ghaderi, Zhila; Afroozan, Fariba; Talea, Ali; Ahangari, Fatemeh; Makvand, Mina; Najmabadi, Hossein; Kariminejad, Ariana

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies

PMM2-CDG临床和遗传谱的研究:来自一个携带新变异的家族和既往研究的启示

Alagha, Parnian; Akhtarkhavari, Tara; Shokouhian, Ebrahim; Ghodratpour, Fatemeh; Arzhangi, Sanaz; Najmabadi, Hossein; Kahrizi, Kimia

Pregnancies, intentions, and fertility behaviors during use of the Creighton Model FertilityCare System after initial intention to avoid pregnancy: Results from the Creighton Model effectiveness, intentions, behaviors assessment study

最初打算避免怀孕后,使用克雷顿模式生育保健系统期间的怀孕、意愿和生育行为:克雷顿模式有效性、意愿和行为评估研究的结果

Stanford, Joseph B; Najmabadi, Shahpar; Chang, Chun-Pin Esther; Agyemang, Daniel Opoku; Rivet, Kathy; Porucznik, Christina A

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

下一代测序技术在伊朗人群孟德尔遗传病诊断中的临床应用

Abolhassani, Ayda; Fattahi, Zohreh; Beheshtian, Maryam; Fadaee, Mahsa; Vazehan, Raheleh; Ahangari, Fatemeh; Dehdahsi, Shima; Faraji Zonooz, Mehrshid; Parsimehr, Elham; Kalhor, Zahra; Peymani, Fatemeh; Mozaffarpour Nouri, Maryam; Babanejad, Mojgan; Noudehi, Khadijeh; Fatehi, Fatemeh; Zamanian Najafabadi, Shima; Afroozan, Fariba; Yazdan, Hilda; Bozorgmehr, Bita; Azarkeivan, Azita; Sadat Mahdavi, Shokouh; Nikuei, Pooneh; Fatehi, Farzad; Jamali, Payman; Ashrafi, Mahmoud Reza; Karimzadeh, Parvaneh; Habibi, Haleh; Kahrizi, Kimia; Nafissi, Shahriar; Kariminejad, Ariana; Najmabadi, Hossein