235 related articles for article (PubMed ID: 30869828)
1. Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.
Romanet P; Odou MF; North MO; Saveanu A; Coppin L; Pasmant E; Mohamed A; Goudet P; Borson-Chazot F; Calender A; Béroud C; Lévy N; Giraud S; Barlier A
Hum Mutat; 2019 Jun; 40(6):661-674. PubMed ID: 30869828
[TBL] [Abstract][Full Text] [Related]
2. UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
Romanet P; Mohamed A; Giraud S; Odou MF; North MO; Pertuit M; Pasmant E; Coppin L; Guien C; Calender A; Borson-Chazot F; Béroud C; Goudet P; Barlier A
J Clin Endocrinol Metab; 2019 Mar; 104(3):753-764. PubMed ID: 30339208
[TBL] [Abstract][Full Text] [Related]
3. A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance.
Matsubayashi H; Kiyozumi Y; Harada R; Mukaigawa T; Sugiura T; Ishiwatari H; Sato J; Niiya F; Nakashima K; Kado N; Nishimura S; Honda G; Ohike N
Intern Med; 2024 Apr; 63(8):1119-1123. PubMed ID: 37661450
[TBL] [Abstract][Full Text] [Related]
4. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Tavtigian SV; Greenblatt MS; Harrison SM; Nussbaum RL; Prabhu SA; Boucher KM; Biesecker LG;
Genet Med; 2018 Sep; 20(9):1054-1060. PubMed ID: 29300386
[TBL] [Abstract][Full Text] [Related]
5. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
[TBL] [Abstract][Full Text] [Related]
6. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM; Muenzen K; Biesecker LG; Bowling KM; Cooper GM; Dorschner MO; Driscoll C; Foreman AKM; Golden-Grant K; Greally JM; Hindorff L; Kanavy D; Jobanputra V; Johnston JJ; Kenny EE; McNulty S; Murali P; Ou J; Powell BC; Rehm HL; Rolf B; Roman TS; Van Ziffle J; Guha S; Abhyankar A; Crosslin D; Venner E; Yuan B; Zouk H; ; Jarvik GP
Am J Hum Genet; 2020 Nov; 107(5):932-941. PubMed ID: 33108757
[TBL] [Abstract][Full Text] [Related]
7. Application of an intracellular stability test of a novel missense menin mutant to the diagnosis of multiple endocrine neoplasia type 1.
Nagamura Y; Yamazaki M; Shimazu S; Tsukada T; Sakurai A
Endocr J; 2012; 59(12):1093-8. PubMed ID: 22878668
[TBL] [Abstract][Full Text] [Related]
8. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C; Susswein LR; Roberts ME; Yang H; Marshall ML; Hiraki S; Berkofsky-Fessler W; Gupta S; Shen W; Dunn CA; Huang H; Na J; Domchek SM; Yadav S; Monteiro ANA; Polley EC; Hart SN; Hruska KS; Couch FJ
Clin Cancer Res; 2022 Sep; 28(17):3742-3751. PubMed ID: 35736817
[TBL] [Abstract][Full Text] [Related]
9. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Ghosh R; Oak N; Plon SE
Genome Biol; 2017 Nov; 18(1):225. PubMed ID: 29179779
[TBL] [Abstract][Full Text] [Related]
10. Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
Shimazu S; Nagamura Y; Yaguchi H; Ohkura N; Tsukada T
Cancer Sci; 2011 Nov; 102(11):2097-102. PubMed ID: 21819486
[TBL] [Abstract][Full Text] [Related]
11. Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype.
Perakakis N; Flohr F; Kayser G; Thomusch O; Parsons L; Billmann F; von Dobschuetz E; Rondot S; Seufert J; Laubner K
Hormones (Athens); 2016; 15(1):113-7. PubMed ID: 26732163
[TBL] [Abstract][Full Text] [Related]
12. Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
Wautot V; Vercherat C; Lespinasse J; Chambe B; Lenoir GM; Zhang CX; Porchet N; Cordier M; Béroud C; Calender A
Hum Mutat; 2002 Jul; 20(1):35-47. PubMed ID: 12112656
[TBL] [Abstract][Full Text] [Related]
13. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K; Krempely K; Roberts ME; Anderson MJ; Carneiro F; Chao E; Dixon K; Figueiredo J; Ghosh R; Huntsman D; Kaurah P; Kesserwan C; Landrith T; Li S; Mensenkamp AR; Oliveira C; Pardo C; Pesaran T; Richardson M; Slavin TP; Spurdle AB; Trapp M; Witkowski L; Yi CS; Zhang L; Plon SE; Schrader KA; Karam R
Hum Mutat; 2018 Nov; 39(11):1553-1568. PubMed ID: 30311375
[TBL] [Abstract][Full Text] [Related]
14. p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?
Nozières C; Zhang CX; Buffet A; Dupasquier S; Vargas-Poussou R; Guillaud-Bataille M; Cordier-Bussat M; Ruszniewski P; Christin-Maitre S; Murat A; Groussin L; Vezzosi D; Cardot-Bauters C; Hervieu V; Joly MO; Giraud S; Odou MF; Gimenez-Roqueplo AP; Goudet P; Borson-Chazot F; Calender A;
Ann Endocrinol (Paris); 2014 Jul; 75(3):133-40. PubMed ID: 24997771
[TBL] [Abstract][Full Text] [Related]
15. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D; Knight Johnson A; Vincent LM; Reavey C; Lai A; Richard G; Meck JM
Genet Med; 2020 Feb; 22(2):336-344. PubMed ID: 31534211
[TBL] [Abstract][Full Text] [Related]
16. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin LM; Kluge ML; Kotzer KE; Lagerstedt SA
Eur J Hum Genet; 2019 Oct; 27(10):1550-1560. PubMed ID: 31227806
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin J; Abs R; Velkeniers B; Bonduelle M; Abramowicz M; Legros JJ; Verloes A; Meurisse M; Van Gaal L; Verellen C; Koulischer L; Beckers A
Hum Mutat; 1999; 13(1):54-60. PubMed ID: 9888389
[TBL] [Abstract][Full Text] [Related]
18. Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Marini F; Giusti F; Fossi C; Cioppi F; Cianferotti L; Masi L; Boaretto F; Zovato S; Cetani F; Colao A; Davì MV; Faggiano A; Fanciulli G; Ferolla P; Ferone D; Loli P; Mantero F; Marcocci C; Opocher G; Beck-Peccoz P; Persani L; Scillitani A; Guizzardi F; Spada A; Tomassetti P; Tonelli F; Brandi ML
Endocrine; 2018 Oct; 62(1):215-233. PubMed ID: 29497973
[TBL] [Abstract][Full Text] [Related]
19. MEN1 gene and its mutations: basic and clinical implications.
Tsukada T; Nagamura Y; Ohkura N
Cancer Sci; 2009 Feb; 100(2):209-15. PubMed ID: 19068082
[TBL] [Abstract][Full Text] [Related]
20. [Multiple endocrine neoplasia type 1 variants and phenocopies].
Mamedova EO; Mokrysheva NG; Przhiialkovskaia EG; Pigarova EA; Rozhinskaia LIa; Tiul'pakov AN
Ter Arkh; 2014; 86(10):87-91. PubMed ID: 25509899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]