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

Novel variants in the SOX11 gene: clinical description of seven new patients

SOX11基因的新变异:7例新患者的临床描述

Schincariol-Manhe, Beatriz; Campagnolo, Érica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldão; Pessoa, André; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andréa Trevas; Gil-da-Silva-Lopes, Vera Lúcia; Dos Santos, Ana Mondadori; Vieira, Társis Paiva

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

从头突变表明染色质修饰、转录调控和视黄酸信号传导与综合征性颅缝早闭症有关。

Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul

Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes

一名患有新生儿糖尿病的6个月大婴儿被发现存在新型复合杂合LRBA缺失

Sanyoura, May; Lundgrin, Erika L; Subramanian, Hari Prasanna; Yu, Min; Sodadasi, Priscilla; Greeley, Siri Atma W; MacLeish, Sarah; Del Gaudio, Daniela

Integrated Analysis of the Pancreas and Islets Reveals Unexpected Findings in Human Male With Type 1 Diabetes

胰腺和胰岛的综合分析揭示了患有 1 型糖尿病的男性的意外发现

Rachana Haliyur, John T Walker, May Sanyoura, Conrad V Reihsmann, Shristi Shrestha, Radhika Aramandla, Greg Poffenberger, Andrea H Ramirez, Sambra D Redick, Jenny Aurielle B Babon, Nripesh Prasad, Robert A Hegele, Sally C Kent, David M Harlan, Rita Bottino, Louis H Philipson, Marcela Brissova, Alvin

A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line

通过对患者来源的iPSC系进行基因校正,鉴定出一种胰腺发育不全的非编码疾病修饰因子。

Siddharth Kishore ,Elisa De Franco ,Fabian L Cardenas-Diaz ,Lisa R Letourneau-Freiberg ,May Sanyoura ,Catherine Osorio-Quintero ,Deborah L French ,Siri Atma W Greeley ,Andrew T Hattersley ,Paul Gadue

Update of variants identified in the pancreatic β-cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

更新先天性高胰岛素血症和糖尿病患者胰岛β细胞K(ATP)通道基因KCNJ11和ABCC8中发现的变异

De Franco, Elisa; Saint-Martin, Cécile; Brusgaard, Klaus; Knight Johnson, Amy E; Aguilar-Bryan, Lydia; Bowman, Pamela; Arnoux, Jean-Baptiste; Larsen, Annette Rønholt; Sanyoura, May; Greeley, Siri Atma W; Calzada-León, Raúl; Harman, Bradley; Houghton, Jayne A L; Nishimura-Meguro, Elisa; Laver, Thomas W; Ellard, Sian; Del Gaudio, Daniela; Christesen, Henrik Thybo; Bellanné-Chantelot, Christine; Flanagan, Sarah E

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

北美共济失调患者群体中 RFC1 介导的脊髓小脑性共济失调的患病率

Aboud Syriani, Dona; Wong, Darice; Andani, Sameer; De Gusmao, Claudio M; Mao, Yuanming; Sanyoura, May; Glotzer, Giacomo; Lockhart, Paul J; Hassin-Baer, Sharon; Khurana, Vikram; Gomez, Christopher M; Perlman, Susan; Das, Soma; Fogel, Brent L

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks

表达HNF1A变体的人类胰岛具有缺陷的β细胞转录调控网络。

Haliyur, Rachana; Tong, Xin; Sanyoura, May; Shrestha, Shristi; Lindner, Jill; Saunders, Diane C; Aramandla, Radhika; Poffenberger, Greg; Redick, Sambra D; Bottino, Rita; Prasad, Nripesh; Levy, Shawn E; Blind, Raymond D; Harlan, David M; Philipson, Louis H; Stein, Roland W; Brissova, Marcela; Powers, Alvin C

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

美国单基因糖尿病登记处中的GCK-MODY:27种未发表变异的描述

Sanyoura, May; Letourneau, Lisa; Knight Johnson, Amy E; Del Gaudio, Daniela; Greeley, Siri Atma W; Philipson, Louis H; Naylor, Rochelle N

Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry

美国单基因糖尿病登记研究中GCK-MODY女性的管理和妊娠结局

Dickens, Laura T; Letourneau, Lisa R; Sanyoura, May; Greeley, Siri Atma W; Philipson, Louis H; Naylor, Rochelle N