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

A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

詹森氏干骺端软骨发育不良的小鼠模型,用于研究疾病机制和候选疗法

Höppner Jakob, Firat Damla, Parvez-Khan Mohd, Reyes Monica, Hanna Patrick, Yadav Prem Swaroop, Dean Thomas, Ramos-Torres Karla M, Brugarolas Pedro, Collins Michael T, Wein Marc N, Liu Shi, Gellman Samuel H, Schipani Ernestina, Kronenberg Henry M, Gardella Thomas J, Jüppner Harald

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

重组生长激素可改善携带母源性GNAS失活突变患者的生长发育和成年身高。

Ertl, Diana-Alexandra; de Nanclares, Guiomar Perez; Jüppner, Harald; Hanna, Patrick; Pagnano, Angela; Pereda, Arrate; Rothenbuhler, Anya; Del Sindaco, Giulia; Ruiz-Cuevas, Pilar; Audrain, Christelle; Escribano, Arancha; Berkenou, Jugurtha; Gleiss, Andreas; Mantovani, Giovanna; Linglart, Agnès

Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease

在携带詹森氏病H223R突变的“人源化”PTH1R小鼠中,生长板软骨细胞的成熟显著延迟

Reyes, Monica; Firat, Damla; Hanna, Patrick; Khan, Mohd; Bruce, Michael; Shvedova, Maria; Kobayashi, Tatsuya; Schipani, Ernestina; Gardella, Thomas J; Jüppner, Harald

Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

靶向长读长测序发现逆转录转座子插入是导致常染色体显性遗传性假性甲状旁腺功能减退症 1b 型 (PHP1B) 家族中 GNAS 外显子 A/B 甲基化改变的原因

Miller, Danny E; Hanna, Patrick; Galey, Miranda; Reyes, Monica; Linglart, Agnès; Eichler, Evan E; Jüppner, Harald

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions

母体STX16缺失导致的常染色体显性遗传性假性甲状旁腺功能减退症Ib型中PTH抵抗的进展

Kiuchi, Zentaro; Reyes, Monica; Hanna, Patrick; Sharma, Anu; DeClue, Terry; Olney, Robert C; Tebben, Peter; Jüppner, Harald

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib

卵子发生过程中GNAS再甲基化不足可能是散发性Ib型假性甲状旁腺功能减退症的病因之一

Milioto, Angelo; Reyes, Monica; Hanna, Patrick; Kiuchi, Zentaro; Turan, Serap; Zeve, Daniel; Agarwal, Chhavi; Grigelioniene, Giedre; Chen, Ang; Mericq, Veronica; Frangos, Myrto; Ten, Svetlana; Mantovani, Giovanna; Salusky, Isidro B; Tebben, Peter; Jüppner, Harald

A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2

一种新型家族性 PHP1B 变异体,其 GNAS-A/B 位点甲基化不完全缺失,而 GNAS-AS2 位点甲基化增强

Hanna, Patrick; Francou, Bruno; Delemer, Brigitte; Jüppner, Harald; Linglart, Agnès

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

假性甲状旁腺功能减退症及相关疾病的诊断和治疗建议:面向医生和患者的最新实用工具

Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Ahmed, S Faisal; Bufo, Roberto; Choplin, Timothée; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M; Garcia Ramirez, Aurora; Germain-Lee, Emily L; Groussin, Lionel; Hamdy, Neveen A T; Hanna, Patrick; Hiort, Olaf; Jüppner, Harald; Kamenický, Peter; Knight, Nina; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A; Mäkitie, Outi; Martin, Regina; Martos-Moreno, Gabriel Ángel; Minagawa, Manasori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebeca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H; Shore, Eileen M; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M Carola; Perez de Nanclares, Guiomar; Linglart, Agnès

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

GNAS基因座的遗传和表观遗传缺陷导致不同的骨骼生长模式,但都会导致相似的早发性肥胖。

Hanna, Patrick; Grybek, Virginie; Perez de Nanclares, Guiomar; Tran, Léa C; de Sanctis, Luisa; Elli, Francesca; Errea, Javier; Francou, Bruno; Kamenicky, Peter; Linglart, Léa; Pereda, Arrate; Rothenbuhler, Anya; Tessaris, Daniele; Thiele, Susanne; Usardi, Alessia; Shoemaker, Ashley H; Kottler, Marie-Laure; Jüppner, Harald; Mantovani, Giovanna; Linglart, Agnès

Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome

GIP依赖性库欣综合征中肾上腺GIPR表达和19q13染色体微重复

Lecoq, Anne-Lise; Stratakis, Constantine A; Viengchareun, Say; Chaligné, Ronan; Tosca, Lucie; Deméocq, Vianney; Hage, Mirella; Berthon, Annabel; Faucz, Fabio R; Hanna, Patrick; Boyer, Hadrien-Gaël; Servant, Nicolas; Salenave, Sylvie; Tachdjian, Gérard; Adam, Clovis; Benhamo, Vanessa; Clauser, Eric; Guiochon-Mantel, Anne; Young, Jacques; Lombès, Marc; Bourdeau, Isabelle; Maiter, Dominique; Tabarin, Antoine; Bertherat, Jérôme; Lefebvre, Hervé; de Herder, Wouter; Louiset, Estelle; Lacroix, André; Chanson, Philippe; Bouligand, Jérôme; Kamenický, Peter