genotype

Determinants of quality of life in Rett syndrome: new findings on associations with genotype
Jonathan Mendoza, Jenny Downs, Kingsley Wong, Helen Leonard

Journal of Medical Genetics Sep 2021, 58 (9) 637-644; DOI: 10.1136/jmedgenet-2020-107120
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
Zhimei Liu, Li Zhang, Changhong Ren, Manting Xu, Shufang Li, Rui Ban, Ye Wu, Ling Chen, Suzhen Sun, Matthias Elstner, Masaru Shimura, Minako Ogawa-Tominaga, Kei Murayama, Tieliu Shi, Holger Prokisch, Fang Fang

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107383; DOI: 10.1136/jmedgenet-2020-107383
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107497; DOI: 10.1136/jmedgenet-2020-107497
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population
Pei Ji, Jiang Chang, Xiaoyu Wei, Xueyao Song, Hua Yuan, Linnan Gong, Yuancheng Li, Dongsheng Ding, Erbao Zhang, Caiwang Yan, Meng Zhu, Xiaoping Miao, Chen Wu, Guangfu Jin, Zhibin Hu, Hongbing Shen, Hongxia Ma

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107410; DOI: 10.1136/jmedgenet-2020-107410
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
Albina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107338; DOI: 10.1136/jmedgenet-2020-107338
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107225; DOI: 10.1136/jmedgenet-2020-107225
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107162; DOI: 10.1136/jmedgenet-2020-107162
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois Papon, Bruno Louis

Journal of Medical Genetics Apr 2020, 57 (4) 237-244; DOI: 10.1136/jmedgenet-2019-106424
Genetic Severity Score predicts clinical phenotype in NF2
Dorothy Halliday, Beatrice Emmanouil, Pieter Pretorius, Samuel MacKeith, Sally Painter, Helen Tomkins, D Gareth Evans, Allyson Parry

Journal of Medical Genetics Oct 2017, 54 (10) 657-664; DOI: 10.1136/jmedgenet-2017-104519

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genotype