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

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I

GHSR功能缺失变异与身材矮小和低IGF-I相关

Punt, Lauren D; Kooijman, Sander; Mutsters, Noa J M; Yue, Kaiming; van der Kaay, Daniëlle C M; van Tellingen, Vera; Bakker-van Waarde, Willie M; Boot, Annemiek M; van den Akker, Erica L T; van Boekholt, Anneke A; de Groote, Kirsten; Kruijsen, Anne R; van Nieuwaal-van Maren, Nancy H G; Woltering, M Claire; Heijligers, Malou; van der Heyden, Josine C; Bannink, Ellen M N; Rinne, Tuula; Hannema, Sabine E; de Waal, Wouter J; Delemarre, Lucia C; Rensen, Patrick C N; de Bruin, Christiaan; van Duyvenvoorde, Hermine A; Visser, Jenny A; Delhanty, Patric J D; Losekoot, Monique; Wit, Jan M; Joustra, Sjoerd D

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis

疾病相关短串联重复序列在肌萎缩侧索硬化症中的作用

van Vugt, Joke J F A; Zwamborn, Ramona A J; Dolzhenko, Egor; Eberle, Michael A; Weisburd, Ben; Bekema, Erwin; Kooyman, Maarten; Wang, Bi-Nan; Kamsteeg, Erik-Jan; Losekoot, Monique; Baas, Frank; Novy, Camilla; Høyer, Helle; van Eijk, Ruben P A; van Es, Michael A; van Rheenen, Wouter; Al-Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan H

<italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients

<italic>IGF1</italic>单倍体不足:9例患者的表型及对生长激素治疗的反应

Joustra, Sjoerd D; Punt, Lauren D; van der Kaay, Daniëlle C M; van Setten, Petra A; de Groote, Kirsten; Kruijsen, Anne R; Bocca, Gianni; de Munnik, Sonja A; Renes, Judith S; de Bruin, Christiaan; Losekoot, Monique; van Duyvenvoorde, Hermine A; Wit, Jan M; Joustra, Sjoerd D

Prevalence of Juvenile-Onset and Pediatric Huntington's Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study

青少年发病型和儿童型亨廷顿病患病率及其参与临床试验的可及性和能力:一项荷兰人群和 Enroll-HD 观察性研究

Bakels, Hannah S; Feleus, Stephanie; Rodríguez-Girondo, Mar; Losekoot, Monique; Bijlsma, Emilia K; Roos, Raymund A C; de Bot, Susanne T

Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

长期生长激素治疗伴有IGF1R缺失、青春期延迟和中枢性甲状腺功能减退症的患者

Çelik, Nur Berna; Losekoot, Monique; Işık, Emregül; Gönç, E Nazlı; Alikaşifoğlu, Ayfer; Kandemir, Nurgün; Özön, Z Alev

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

POC1A双等位基因变异会导致伴有肌肉痉挛的综合征性严重胰岛素抵抗。

Mericq, Veronica; Huang-Doran, Isabel; Al-Naqeb, Dhekra; Basaure, Javiera; Castiglioni, Claudia; de Bruin, Christiaan; Hendriks, Yvonne; Bertini, Enrico; Alkuraya, Fowzan S; Losekoot, Monique; Al-Rubeaan, Khalid; Semple, Robert K; Wit, Jan M

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

IGSF1 缺乏症可能表现为游离 T4 水平正常、严重肥胖或睾丸过早发育

Ghanny, Steven; Zidell, Aliza; Pedro, Helio; Joustra, Sjoerd D; Losekoot, Monique; Wit, Jan M; Aisenberg, Javier

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations

由PKD1和PKD2截断突变双系遗传引起的多囊肾病

Losekoot, Monique; Meijer, Esther; Hagen, E Christiaan; Belostotsky, Vladimir; de Borst, Martin; Tholens, Aart; Phylipsen, Marion; Pei, York; Gansevoort, Ron T; Peters, Dorien J M

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

CLN3基因中c.1A>C起始密码子突变与疾病病程迁延相关。

Kuper, Willemijn F E; van Alfen, Claudia; van Eck, Linda; de Man, Stella A; Willemsen, Marjolein H; van Gassen, Koen L I; Losekoot, Monique; van Hasselt, Peter M

Rapid Progression of Autosomal Dominant Polycystic Kidney Disease: Urinary Biomarkers as Predictors.

常染色体显性多囊肾病快速进展:尿液生物标志物作为预测指标

Messchendorp A Lianne, Meijer Esther, Visser Folkert W, Engels Gerwin E, Kappert Peter, Losekoot Monique, Peters Dorien J M, Gansevoort Ron T