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

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study

罕见骨脆性疾病的临床表现及对双膦酸盐治疗的反应:一项回顾性研究

Charpié, Maëlle; Brunelle, Perrine; Baujat, Geneviève; Michot, Caroline; Van Gils, Julien; Leheup, Bruno; Schaefer, Élise; Koumakis, Eugénie; Pejin, Zagorka; Pinto, Graziella; Monnot, Sophie; Cormier-Daire, Valérie

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

定期重新解读意义不明的拷贝数变异的临床应用价值:一项为期8年的回顾性研究

Ravel, Jean-Marie; Renaud, Mathilde; Muller, Jean; Becker, Aurélie; Renard, Émeline; Remen, Thomas; Lefort, Geneviève; Dexheimer, Mylène; Jonveaux, Philippe; Leheup, Bruno; Bonnet, Céline; Lambert, Laëtitia

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

Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency

Dlk1-Dio3 基因座的 miRNA 与组蛋白甲基化之间的相互作用可保护男性小脑免受甲基供体缺乏的影响

Jeremy Willekens, Pauline Mosca, Nathan Burt-Oberecken, Edgar Laugeais, Tony Kaoma, François Bernardin, Laurent Vallar, Pauline Dimofski, Mathilde Renaud, Laetitia Lambert, Bruno Leheup, Jean-Louis Guéant, Brigitte Leininger-Muller, Natacha Dreumont

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data

生长激素剂量调节与出生时小于胎龄儿最终身高的关系:法国真实世界数据

Coutant, Régis; Leheup, Bruno; Nicolino, Marc; Salles, Jean-Pierre

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Arg338* AP4M1 (SPG50) 变异体可能具有创始人效应,导致严重智力障碍、癫痫和痉挛性截瘫:三个家族的报告

Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi-Warde, Marie-Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Duerinckx, Sarah; Pirson, Isabelle; Abramowicz, Marc; Clément, Guillemette; Leheup, Bruno; Jonveaux, Philippe; Lefort, Geneviève; Bronner, Myriam; Renaud, Mathilde; Bonnet, Céline

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

Vitamin B12 Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions

维生素 B12 缺乏导致与神经功能有关的基因的 m6A mRNA 甲基化失调

Pauline Mosca, Aurélie Robert, Jean-Marc Alberto, Marie Meyer, Urbi Kundu, Sébastien Hergalant, Rémy Umoret, David Coelho, Jean-Louis Guéant, Bruno Leheup, Natacha Dreumont

MAN1B1-CDG: Three new individuals and associated biochemical profiles

MAN1B1-CDG:三个新个体及其相关生化特征

Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel