genotype

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 Apr 2022, 59 (4) 335-345; DOI: 10.1136/jmedgenet-2020-107410
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 2022, 59 (4) 351-357; 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 Apr 2022, 59 (4) 399-409; DOI: 10.1136/jmedgenet-2020-107497
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta

Journal of Medical Genetics Mar 2022, jmedgenet-2021-108093; DOI: 10.1136/jmedgenet-2021-108093
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 Mar 2022, 59 (3) 287-293; 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 Feb 2022, 59 (2) 189-195; DOI: 10.1136/jmedgenet-2020-107225
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka

Journal of Medical Genetics Dec 2021, jmedgenet-2021-108186; DOI: 10.1136/jmedgenet-2021-108186
NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlation
Yu Fan, Yuming Xu, Changhe Shi

Journal of Medical Genetics Jan 2022, 59 (1) 1-9; DOI: 10.1136/jmedgenet-2021-107883
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
Jean Pierre Bayley, Birke Bausch, Jeroen C Jansen, Erik F Hensen, Karin van der Tuin, Eleonora PM Corssmit, Peter Devilee, Hartmut PH Neumann

Journal of Medical Genetics Nov 2021, jmedgenet-2020-107656; DOI: 10.1136/jmedgenet-2020-107656
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 Oct 2021, 58 (10) 692-700; DOI: 10.1136/jmedgenet-2020-107162

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