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

Atypical thyroid manifestation in Cowden disease: a case report and literature review

考登病非典型甲状腺表现:病例报告及文献综述

Garcia, Marion; Oliver Petit, Isabelle; Franchet, Camille; Abbo, Olivier; Cartault, Audrey; Savagner, Frédérique

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

先天性甲状腺功能减退症伴原位腺体的严重程度可预测靶向二代测序的分子产量

Levaillant, Lucie; Bouhours-Nouet, Natacha; Illouz, Frédéric; Amsellem Jager, Jessica; Bachelot, Anne; Barat, Pascal; Baron, Sabine; Bensignor, Candace; Brac De La Perriere, Aude; Braik Djellas, Yasmine; Caillot, Morgane; Caldagues, Emmanuelle; Campas, Marie-Neige; Caquard, Marylène; Cartault, Audrey; Cheignon, Julie; Decrequy, Anne; Delemer, Brigitte; Dieckmann, Katherine; Donzeau, Aurélie; Doye, Emilie; Fradin, Mélanie; Gaudillière, Mélanie; Gatelais, Frédérique; Gorce, Magali; Hazart, Isabelle; Houcinat, Nada; Houdon, Laure; Ister-Salome, Marielle; Jozwiak, Lucie; Jeannoel, Patrick; Labarthe, Francois; Lacombe, Didier; Lambert, Anne-Sophie; Lefevre, Christine; Leheup, Bruno; Leroy, Clara; Maisonneuve, Benedicte; Marchand, Isis; Marquant, Emeline; Muszlak, Matthias; Pantalone, Letitia; Pochelu, Sandra; Quelin, Chloé; Radet, Catherine; Renoult-Pierre, Peggy; Reynaud, Rachel; Rouleau, Stéphanie; Teinturier, Cécile; Thevenon, Julien; Turlotte, Caroline; Valle, Aline; Vierge, Melody; Villanueva, Carine; Ziegler, Alban; Dieu, Xavier; Bouzamondo, Nathalie; Rodien, Patrice; Prunier-Mirebeau, Delphine; Coutant, Régis

Quality of life in men with Klinefelter syndrome: a multicentre study

克氏综合征男性患者的生活质量:一项多中心研究

Franik, Sebastian; Fleischer, Kathrin; Kortmann, Barbara; Stikkelbroeck, Nike M; D'Hauwers, Kathleen; Bouvattier, Claire; Slowikowska-Hilczer, Jolanta; Grunenwald, Solange; van de Grift, Tim; Cartault, Audrey; Richter-Unruh, Annette; Reisch, Nicole; Thyen, Ute; IntHout, Joanna; Claahsen-van der Grinten, Hedi L

DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review

DICER1综合征合并宫颈胚胎性横纹肌肉瘤:病例报告及文献综述

Stambouli, Alexandre; Cartault, Audrey; Petit, Isabelle Oliver; Evrard, Solene; Mery, Eliane; Savagner, Frederique; Trudel, Stephanie

The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

克氏综合征对社会经济地位的影响:一项多中心研究

Franik, Sebastian; Fleischer, Kathrin; Kortmann, Barbara; Stikkelbroeck, Nike M; D'Hauwers, Kathleen; Bouvattier, Claire; Slowikowska-Hilczer, Jolanta; Grunenwald, Solange; van de Grift, Tim; Cartault, Audrey; Richter-Unruh, Annette; Reisch, Nicole; Thyen, Ute; IntHout, Joanna; Claahsen-van der Grinten, Hedi L

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients

历史和地理因素如何解释科摩罗群岛中一种新型DNA修复缺陷型着色性干皮病患者的突变分布

Sarasin, Alain; Munier, Patrick; Cartault, François

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

一项法国多中心研究纳入了700多例经FISH或aCGH诊断为22q11缺失的患者。

Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

甲硫氨酰-tRNA合成酶的双等位基因突变导致留尼汪岛上流行的一种特定类型的肺泡蛋白沉积症。

Hadchouel, Alice; Wieland, Thomas; Griese, Matthias; Baruffini, Enrico; Lorenz-Depiereux, Bettina; Enaud, Laurent; Graf, Elisabeth; Dubus, Jean Christophe; Halioui-Louhaichi, Sonia; Coulomb, Aurore; Delacourt, Christophe; Eckstein, Gertrud; Zarbock, Ralf; Schwarzmayr, Thomas; Cartault, François; Meitinger, Thomas; Lodi, Tiziana; de Blic, Jacques; Strom, Tim M

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

扩大B4GALT7缺陷的临床谱:具有创始人效应的纯合p.R270C突变导致留尼汪岛拉森综合征

Cartault, François; Munier, Patrick; Jacquemont, Marie-Line; Vellayoudom, Jeannine; Doray, Bérénice; Payet, Christine; Randrianaivo, Hanitra; Laville, Jean-Marc; Munnich, Arnold; Cormier-Daire, Valérie

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

WDR35 中的特定变体会破坏 EvC 复合物和 SMO 向纤毛的募集,从而导致一种特殊形式的 Ellis-van Creveld 综合征

José A Caparrós-Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia Temtamy, Ghada A Otaify, Mennat Mehrez, María Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda-Arenas, Karen E Heath, Maria Cristina Digilio, Bruno Dallapiccola, Judith A Goodship, Pleasanti