82 related articles for article (PubMed ID: 12890928)
1. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.
Gandhi MJ; Cummings CL; Drachman JG
Hum Hered; 2003; 55(1):66-70. PubMed ID: 12890928
[TBL] [Abstract][Full Text] [Related]
2. Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
Di Paola J; Johnson J
Semin Thromb Hemost; 2011 Sep; 37(6):690-7. PubMed ID: 22102272
[TBL] [Abstract][Full Text] [Related]
3. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
Savoia A; Del Vecchio M; Totaro A; Perrotta S; Amendola G; Moretti A; Zelante L; Iolascon A
Am J Hum Genet; 1999 Nov; 65(5):1401-5. PubMed ID: 10521306
[TBL] [Abstract][Full Text] [Related]
4. In vivo inactivation of MASTL kinase results in thrombocytopenia.
Johnson HJ; Gandhi MJ; Shafizadeh E; Langer NB; Pierce EL; Paw BH; Gilligan DM; Drachman JG
Exp Hematol; 2009 Aug; 37(8):901-8. PubMed ID: 19460416
[TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.
Drachman JG; Jarvik GP; Mehaffey MG
Blood; 2000 Jul; 96(1):118-25. PubMed ID: 10891439
[TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
Padoan R; Bassotti A; Seia M; Ambrosioni A; Fiori S; Prandoni S; Rajnoldi AC; Giunta A; Corbetta C
Hum Mutat; 2000 May; 15(5):485. PubMed ID: 10790222
[No Abstract] [Full Text] [Related]
7. A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S; Gofin Y; Streff H; Vossaert L; Camacho P; Murali CN
Am J Med Genet A; 2024 Jan; 194(1):77-81. PubMed ID: 37746810
[TBL] [Abstract][Full Text] [Related]
8. Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets.
Hurtado B; Trakala M; Ximénez-Embún P; El Bakkali A; Partida D; Sanz-Castillo B; Álvarez-Fernández M; Maroto M; Sánchez-Martínez R; Martínez L; Muñoz J; García de Frutos P; Malumbres M
J Clin Invest; 2018 Dec; 128(12):5351-5367. PubMed ID: 30252678
[TBL] [Abstract][Full Text] [Related]
9. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
Chen DH; Matsushita M; Rainier S; Meaney B; Tisch L; Feleke A; Wolff J; Lipe H; Fink J; Bird TD; Raskind WH
Arch Neurol; 2005 Apr; 62(4):597-600. PubMed ID: 15824259
[TBL] [Abstract][Full Text] [Related]
10. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
Grigelioniené G; Hagenäs L; Eklöf O; Neumeyer L; Haereid PE; Anvret M
Hum Mutat; 1998; 11(4):333. PubMed ID: 10215410
[TBL] [Abstract][Full Text] [Related]
11. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP; Sullivan LS; Bowne SJ; Koboldt DC; Blanton SH; Wheaton DK; Avery CE; Cadena ED; Koenekoop RK; Fulton RS; Wilson RK; Weinstock GM; Lewis RA; Birch DG
Adv Exp Med Biol; 2016; 854():193-200. PubMed ID: 26427411
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.
Hansen J; Svenstrup K; Ang D; Nielsen MN; Christensen JH; Gregersen N; Nielsen JE; Georgopoulos C; Bross P
J Neurol; 2007 Jul; 254(7):897-900. PubMed ID: 17420924
[TBL] [Abstract][Full Text] [Related]
13. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Guéguen P; Rouault K; Chen JM; Raguénès O; Fichou Y; Hardy E; Gobin E; Pan-Petesch B; Kerbiriou M; Trouvé P; Marcorelles P; Abgrall JF; Le Maréchal C; Férec C
PLoS One; 2013; 8(9):e74728. PubMed ID: 24069336
[TBL] [Abstract][Full Text] [Related]
14. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
Bennett TM; Mackay DS; Knopf HL; Shiels A
Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569
[TBL] [Abstract][Full Text] [Related]
15. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.
Ramoz N; Reichert JG; Smith CJ; Silverman JM; Bespalova IN; Davis KL; Buxbaum JD
Am J Psychiatry; 2004 Apr; 161(4):662-9. PubMed ID: 15056512
[TBL] [Abstract][Full Text] [Related]
16. Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
Messina-Baas OM; Gonzalez-Huerta LM; Cuevas-Covarrubias SA
Mol Vis; 2006 Aug; 12():995-1000. PubMed ID: 16943771
[TBL] [Abstract][Full Text] [Related]
17. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.
Shiels A; Bennett TM; Prince JB; Tychsen L
Mol Vis; 2007 Nov; 13():2233-41. PubMed ID: 18087240
[TBL] [Abstract][Full Text] [Related]
18. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis.
Yang JM; Nam K; Kim HC; Lee JH; Park JK; Wu K; Lee ES; Steinert PM
J Invest Dermatol; 1999 Mar; 112(3):376-9. PubMed ID: 10084317
[TBL] [Abstract][Full Text] [Related]
19. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Rivolta CM; Olcese MC; Belforte FS; Chiesa A; Gruñeiro-Papendieck L; Iorcansky S; Herzovich V; Cassorla F; Gauna A; Gonzalez-Sarmiento R; Targovnik HM
Mol Cell Probes; 2009; 23(3-4):148-53. PubMed ID: 19268523
[TBL] [Abstract][Full Text] [Related]
20. Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
Selmer KK; Grøndahl J; Riise R; Brandal K; Braaten O; Bragadottir R; Undlien DE
Acta Ophthalmol; 2010 May; 88(3):323-8. PubMed ID: 19183411
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]