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

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

神经纤维瘤病-努南综合征:一项前瞻性单中心研究(纳入26例患者)及文献综述

Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; G, de La Villeon; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Geneviève, David; Cavé, Hélène; Willems, Marjolaine

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

型神经纤维瘤病的产前诊断和生殖系嵌合体的陷阱

Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, 

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

NF1缺失综合征中大片段重排与患者表型的相关性:最新进展与综述

Pacot, Laurence; Girish, Milind; Knight, Samantha; Spurlock, Gill; Varghese, Vinod; Ye, Manuela; Thomas, Nick; Pasmant, Eric; Upadhyaya, Meena

Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

关于NF1基因内倒位作为1型神经纤维瘤病致病机制的评论

Pacot, Laurence; Chansavang, Albain; Jacques, Sébastien; Laurendeau, Ingrid; Hadjadj, Djihad; Ferkal, Salah; Wolkenstein, Pierre; Vidaud, Dominique; Pasmant, Eric

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta

口腔牙齿表型分析及三例与 RELT 相关的牙釉质发育不全家族病例报告

Resende, Kemelly Karolliny Moreira; Riou, Margot Charlotte; Yamaguti, Paulo Marcio; Fournier, Benjamin; Rondeau, Sophie; Pacot, Laurence; Berdal, Ariane; Felizardo, Rufino; Mazzeu, Juliana Forte; Cormier-Daire, Valérie; Gaucher, Céline; Acevedo, Ana Carolina; de La Dure-Molla, Muriel

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

NF1 c.2970_2972del p.(Met992del)的自然史:一项纵向研究证实其并发症风险较低

Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Hélène; Schaefer, Elise; Quelin, Chloé; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

SPiP:剪接预测流程,一种用于大规模检测外显子和内含子变异对mRNA剪接影响的机器学习工具

Leman, Raphaël; Parfait, Béatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gérald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Céline; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Hélène; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Françoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T; Spurdle, Amanda B; Frébourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie

Severe Phenotype in Patients with Large Deletions of NF1

NF1 大片段缺失患者的严重表型

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfu

One NF1 Mutation may Conceal Another

一种NF1突变可能掩盖另一种突变。

Pacot, Laurence; Burin des Roziers, Cyril; Laurendeau, Ingrid; Briand-Suleau, Audrey; Coustier, Audrey; Mayard, Théodora; Tlemsani, Camille; Faivre, Laurence; Thomas, Quentin; Rodriguez, Diana; Blesson, Sophie; Dollfus, Hélène; Muller, Yvon-Gauthier; Parfait, Béatrice; Vidaud, Michel; Gilbert-Dussardier, Brigitte; Yardin, Catherine; Dauriat, Benjamin; Derancourt, Christian; Vidaud, Dominique; Pasmant, Eric