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

Mapping epigenetic gene variant dynamics: comparative analysis of frequency, functional impact and trait associations in African and European populations

绘制表观遗传基因变异动态图谱:非洲和欧洲人群中变异频率、功能影响和性状关联的比较分析

Sinkala, Musalula; Retshabile, Gaone; Mpangase, Phelelani T; Bamba, Salia; Goita, Modibo K; Nembaware, Victoria; Elsheikh, Samar S M; Heckmann, Jeannine; Esoh, Kevin; Matshaba, Mogomotsi; Adebamowo, Clement A; Adebamowo, Sally N; Amih, Ofon Elvis; Landoure, Guida; Wonkam, Ambroise; Ramsay, Michele; Mulder, Nicola

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

Yalcouyé Abdoulaye, Schrauwen Isabelle, Traoré Oumou, Bamba Salia, Aboagye Elvis Twumasi, Acharya Anushree, Bharadwaj Thashi, Latanich Rachel, Esoh Kevin, Fortes-Lima Cesar A, de Kock Carmen, Jonas Mario, Maiga Alassane Dit Baneye, Cissé Cheick A K, Sangaré Moussa A, Guinto Cheick O, Landouré Guida, Leal Suzanne M, Wonkam Ambroise

Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families

罕见变异导致马里家族患上夏科-马里-图斯病

Yalcouyé, Abdoulaye; Cissé, Lassana; Diarra, Salimata; Diallo, Seybou H; Bamba, Salia; Yeetong, Patra; Maiga, Boubacar; Dembélé, Kékouta; Coulibaly, Dramane; Diallo, Salimata; Taméga, Abdoulaye; Maiga, Alassane Baneye; Ba, Hamidou O; Shotelersuk, Vorasuk; Fischbeck, Kenneth H; Guinto, Cheick O; Landouré, Guida

Unusual catecholaminergic polymorphic ventricular tachycardia and bradycardia caused by a novel triadin variant in 2 siblings from a Malian family

马里一个家族的两名兄弟姐妹因一种新的三联蛋白变异体而患上罕见的儿茶酚胺能多形性室性心动过速和心动过缓

Diakité, Mamadou; Samassékou, Oumar; Sanni, Koudoussou O; Bamba, Salia; Dembélé, Bouréma; Traoré, Oumou; Goita, Modibo K; Maiga, Alassane Baneye; Diarra, Salimata; Sacko, Abdoul Karim; Ba, Hamidou O; Coulibaly, Souleymane; Menta, Ichaka; Landouré, Guida

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

ARSA基因的新变异导致马里一个家族出现一种罕见的婴儿异染性脑白质营养不良表型

Maiga, Alassane Baneye; Arama, Abdoulaye; Yalcouyé, Abdoulaye; Albakaye, Mohamed; Weizhen, Ji; Bamba, Salia; Traoré, Oumou; Sangaré, Moussa; Kotioumbé, Mahamadou; Djimdé, Samba Ogomaly; Goita, Modibo K; Diarra, Salimata; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali

三重外显子组分析是马里癫痫基因诊断的重要工具。

Bamba, Salia; Jeffries, Lauren; Diarra, Salimata; Nimaga, Karamoko; Touré, Amadou; Goita, Modibo K; Diallo, Seybou H; Ji, Weizhen; Maiga, Alassane Baneye; Traoré, Oumou; Doumbia, Moussa; Koné, Adama; Sanni, Koudoussou Olaréwadjou; Camara, Ahmed; Cissé, Mohamed A; Kane, Ramatoulaye; Nimaga, Ibrahim; Traoré, Mamadou; Cissé, Lassana; Yalcouyé, Abdoulaye; Abdel Kader Cissé, Cheick; Mefoung, Samuel Ephrata; Sangaré, Moussa; Kotioumbé, Mahamadou; Touré, Aissata S; Dembélé, Mohamed Emile; Mis, Emily K; Guinto, Cheick Oumar; Samassékou, Oumar; Traoré, Mahamadou; Khokha, Mustafa K; Landouré, Guida; Lakhani, Saquib A

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

RAI1基因中的五核苷酸重复序列插入导致良性成人家族性肌阵挛性癫痫8型

Yeetong, Patra; Dembélé, Mohamed E; Pongpanich, Monnat; Cissé, Lassana; Srichomthong, Chalurmpon; Maiga, Alassane B; Dembélé, Kékouta; Assawapitaksakul, Adjima; Bamba, Salia; Yalcouyé, Abdoulaye; Diarra, Salimata; Mefoung, Samuel Ephrata; Rakwongkhachon, Supphakorn; Traoré, Oumou; Tongkobpetch, Siraprapa; Fischbeck, Kenneth H; Gahl, William A; Guinto, Cheick O; Shotelersuk, Vorasuk; Landouré, Guida

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

病例报告:来自马里的三个互不相关的家族中,新的变异导致发育性和癫痫性脑病

Bamba, Salia; Sidibé, Lala; Diallo, Seybou H; Cissé, Lassana; Dembélé, Kékouta; Yalcouyé, Abdoulaye; Ji, Weizhen; Dembélé, Mohamed Emile; Diarra, Salimata; Maiga, Alassane Dit Baneye; Traoré, Oumou; Diallo, Salimata; Mefoung, Samuel Ephrata; Touré, Amadou; Koné, Adama; Jeffries, Lauren; Guinto, Cheick O; Mis, Emily K; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

马里进行性肌阵挛性癫痫的基因谱分析揭示了新的发现

Cissé, Lassana; Bamba, Salia; Diallo, Seybou H; Ji, Weizhen; Dembélé, Mohamed Emile; Yalcouyé, Abdoulaye; Coulibaly, Toumany; Traoré, Ibrahima; Jeffries, Lauren; Diarra, Salimata; Maiga, Alassane Dit Baneye; Diallo, Salimata; Nimaga, Karamoko; Touré, Amadou; Traoré, Oumou; Kotioumbé, Mahamadou; Mis, Emily Kathryn; Cissé, Cheick Abdel Kader; Guinto, Cheick Oumar; Fischbeck, Kenneth H; Khokha, Mustafa K; Lakhani, Saquib A; Landouré, Guida

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

COL6A1基因中一种新的剪接位点变异导致马里一个近亲结婚家庭患上乌尔里希先天性肌营养不良症

Maiga, Alassane Baneye; Pamanta, Ibrahim; Bamba, Salia; Cissé, Lassana; Diarra, Salimata; Touré, Sidi; Yalcouyé, Abdoulaye; Diallo, Seydou; Diallo, Salimata; Kané, Fousseyni; Diallo, Seybou Hassane; Ba, Hamidou Oumar; Guinto, Cheick Oumar; Fischbeck, Kenneth; Landoure, Guida; Cissé, Idrissa Ahmadou