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

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

E3泛素连接酶底物识别亚基FEM1B中一个反复出现的错义变异会导致一种罕见的综合征性神经发育障碍。

François Lecoquierre ,A Mattijs Punt ,Frédéric Ebstein ,Ilse Wallaard ,Rob Verhagen ,Maja Studencka-Turski ,Yannis Duffourd ,Sébastien Moutton ,Frédédic Tran Mau-Them ,Christophe Philippe ,John Dean ,Stephen Tennant ,Alice S Brooks ,Marjon A van Slegtenhorst ,Julie A Jurgens ,Brenda J Barry ,Wai-Man Chan ,Eleina M England ,Mayra Martinez Ojeda ,Elizabeth C Engle ,Caroline D Robson ,Michelle Morrow ,A Micheil Innes ,Ryan Lamont ,Matthea Sanderson ,Elke Krüger ,Christel Thauvin ,Ben Distel ,Laurence Faivre ,Ype Elgersma ,Antonio Vitobello

A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register study

一项关于精神障碍发病年龄和累积发病率的综合分析:丹麦登记研究

Beck, Christoffer; Pedersen, Carsten Bøcker; Plana-Ripoll, Oleguer; Dalsgaard, Søren; Debost, Jean-Christophe Philippe; Laursen, Thomas Munk; Musliner, Katherine Louise; Mortensen, Preben Bo; Pedersen, Marianne Giørtz; Petersen, Liselotte Vogdrup; Yilmaz, Zeynep; McGrath, John; Agerbo, Esben

The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders

新生儿补体成分 3 和 4 蛋白浓度的相关性,重点关注精神疾病和自身免疫性疾病

Nis Borbye-Lorenzen, Zhihong Zhu, Esben Agerbo, Clara Albiñana, Michael E Benros, Beilei Bian, Anders D Børglum, Cynthia M Bulik, Jean-Christophe Philippe Goldtsche Debost, Jakob Grove, David M Hougaard, Allan F McRae, Ole Mors, Preben Bo Mortensen, Katherine L Musliner, Merete Nordentoft, Liselotte

Neonatal necrotizing enterocolitis: Clostridium butyricum and Clostridium neonatale fermentation metabolism and enteropathogenicity

新生儿坏死性小肠结肠炎:丁酸梭菌和新生儿梭菌的发酵代谢及肠道致病性

Ferraris, Laurent; Balvay, Aurélie; Bellet, Deborah; Delannoy, Johanne; Maudet, Claire; Larcher, Thibaut; Rozé, Jean-Christophe; Philippe, Catherine; Meylheuc, Thierry; Butel, Marie-José; Rabot, Sylvie; Aires, Julio

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

与自闭症相关的 NLGN3 是促性腺激素释放激素缺乏症的关键调节因子

Roberto Oleari, Antonella Lettieri, Stefano Manzini, Alyssa Paganoni, Valentina André, Paolo Grazioli, Marco Busnelli, Paolo Duminuco, Antonio Vitobello, Christophe Philippe, Varoona Bizaoui, Helen L Storr, Federica Amoruso, Fani Memi, Valeria Vezzoli, Valentina Massa, Peter Scheiffele, Sasha R Howa

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

对基因组测序数据的二次分析:检测罕见病队列中的移动元件插入

Philippine Garret,Martin Chevarin,Antonio Vitobello,Simon Verdez,Cyril Fournier,Alain Verloes,Emilie Tisserant,Pierre Vabres,Orlane Prevel,Christophe Philippe,Anne-Sophie Denommé-Pichon,Ange-Line Bruel,Frédéric Tran Mau-Them,Hana Safraou,Aïcha Boughalem,Jean-Marc Costa,Detlef Trost,Christel Thauvin-Robinet,Laurence Faivre,Yannis Duffourd

Genetic and psychosocial influence on the association between early childhood infections and later psychiatric disorders

遗传和社会心理因素对儿童早期感染与后期精神疾病之间关联的影响

Debost, Jean-Christophe Philippe Goldtsche; Thorsteinsson, Erla; Trabjerg, Betina; Benros, Michael Eriksen; Albiñana, Clara; Vilhjalmsson, Bjarni Johann; Børglum, Anders; Mors, Ole; Werge, Thomas; Mortensen, Preben Bo; Agerbo, Esben; Petersen, Liselotte Vogdrup

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4

巴德-比德尔综合征4型患者的非典型表型

Natacha Sloboda ,Laetitia Lambert ,Viorica Ciorna ,Ange-Line Bruel ,Frédéric Tran Mau-Them ,Vladimir Gomola ,Jean-Louis Lemelle ,Olivier Klein ,Marie-Christine Camoin-Schweitzer ,Marie Magnavacca ,Carole Legagneur ,Marie-Laure Ezsto ,Céline Bonnet ,Christophe Philippe ,Bruno Leheup

Variants of human CLDN9 cause mild to profound hearing loss

人类CLDN9基因变异会导致轻度至重度听力损失。

Memoona Ramzan,Christophe Philippe,Inna A Belyantseva,Yoko Nakano,Cristina Fenollar-Ferrer,Risa Tona,Rizwan Yousaf,Rasheeda Basheer,Ayesha Imtiaz,Rabia Faridi,Zunaira Munir,Hafiza Idrees,Midhat Salman,Sophie Nambot,Antonio Vitobello,Souad Kartti,Oumaima Zarrik,P Dane Witmer,Nara Sobreria,Azeddine Ibrahimi,Botond Banfi,Sebastien Moutton,Thomas B Friedman,Sadaf Naz

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

NR2F1 调节小鼠新皮质中的区域祖细胞动态和 BBSOAS 患者的皮质回旋

Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frederic Tran Mau-Them, Marjolaine Willems, Laurence Faivre, Philippe Khau van Kien, Laurence Perrin, Françoise Devillard, Arthur Sorlin, Paul Kuentz, Christophe Philippe, Aurore Garde, Francesco Neri, Rossella Di Giaimo, Salvatore Oliviero, Silvia