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M I Stamou, P Varnavas, L Plummer, V Koika and N A Georgopoulos

silico functional analysis can only provide with supporting evidence of pathogenicity, a thorough evaluation of the detected variants was undertaken based on the recently published criteria by the American College of Medical Genetics and the discovered

Open access

Stavroula A Paschou, Nektaria Papadopoulou-Marketou, George P Chrousos and Christina Kanaka-Gantenbein

Esposito L Dunn MG Johnson GC Timms AE Goy JV Smith AN Sebag-Montefiore L Merriman ME Wilson AJ , et al . A search for type 1 diabetes susceptibility genes in family from the United Kingdom . Nature Genetics 1998 19 297 – 300 ( https://doi.org/10

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Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos

hypogonadotropic hypogonadism . Nature Genetics 1998 18 14 – 15 . ( doi:10.1038/ng0198-14 ) 5 Chevrier L Guimiot F de Roux N. GnRH receptor mutations in isolated gonadotropic deficiency . Molecular and Cellular Endocrinology 2011 346 21

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K G Samsom, L M van Veenendaal, G D Valk, M R Vriens, M E T Tesselaar and J G van den Berg

; NGS, next-generation sequencing; OR, odds ratio; PFS, progression-free survival; SNV, somatic single variants; WT, wildtype. Genetics of SI-NETs Chromosomal aberrations From genomic profile studies, two different groups of SI-NETs can

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Maria Mizamtsidi, Constantinos Nastos, George Mastorakos, Roberto Dina, Ioannis Vassiliou, Maria Gazouli and Fausto Palazzo

primary hyperparathyroidism in Europe . Journal of Bone and Mineral Research 2002 17 N18 – N23 . 4 Thakker R. Genetics of parathyroid tumours . Journal of Internal Medicine 2016 280 574 – 583 . ( https://doi.org/10.1111/joim.12523 ) 10

Open access

Ali Abbasi

glycaemic traits), the corresponding summary association statistics from GWAS for T2D (DIAbetes Genetics Replication And Meta-analysis (DIAGRAMv3)) (13) and glycaemic traits (Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)) (14

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Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

upon request. The final pathogenicity of the variants was estimated using the American College of Medical Genetics and Genomics guidelines. Results Clinical features of the patients Family 1 A 59-year-old man was referred to our

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Adrian F Daly, David A Cano, Eva Venegas-Moreno, Patrick Petrossians, Elena Dios, Emilie Castermans, Alvaro Flores-Martínez, Vincent Bours, Albert Beckers and Alfonso Soto-Moreno

test for loss of heterozygosity (LOH) at the AIP locus. Sequence variations were assessed and graded according to the American College for Medical Genetics guidelines. In the case where class 3 (variant of unknown significance), class 4 (likely

Open access

Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera and Aldo E Calogero

.30.3.318 2 Luo M Mulchandani S Dubbs HA Swarr D Pyle L Zackai EH Spinner NB Conlin LK . Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies . American Journal of Medical Genetics Part A

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

Auxologico Italiano, Milan) for contributing to the UMS database. References 1 Packham EA Brook JD. T-box genes in human disorders . Human Molecular Genetics 2003 12 R37 – R44 . ( https://doi.org/10.1093/hmg/ddg077 ) 10.1093/hmg/ddg077) 2