BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 35112464)

  • 1. Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
    Rydzanicz M; Glinkowski W; Walczak A; Koppolu A; Kostrzewa G; Gasperowicz P; Pollak A; Stawiński P; Płoski R
    Am J Med Genet A; 2022 May; 188(5):1482-1487. PubMed ID: 35112464
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
    Rydzanicz M; Olszewski P; Kedra D; Davies H; Filipowicz N; Bruhn-Olszewska B; Cavalli M; Szczałuba K; Młynek M; Machnicki MM; Stawiński P; Kostrzewa G; Krajewski P; Śladowski D; Chrzanowska K; Dumanski JP; Płoski R
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1526. PubMed ID: 33319479
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
    Vogt J; Kohlhase J; Morlot S; Kluwe L; Mautner VF; Cooper DN; Kehrer-Sawatzki H
    Hum Mutat; 2011 Jun; 32(6):E2134-47. PubMed ID: 21618341
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Monozygotic twins concordant for blood karyotype, but phenotypically discordant: a case of "mosaic chimerism".
    Bourthoumieu S; Yardin C; Terro F; Gilbert B; Laroche C; Saura R; Vincent MC; Esclaire F
    Am J Med Genet A; 2005 Jun; 135(2):190-4. PubMed ID: 15832362
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.
    Essaoui M; Nizon M; Beaujard MP; Carrier A; Tantau J; de Blois MC; Fontaine S; Michot C; Amiel J; Bernard JP; Attié-Bitach T; Vekemans M; Turleau C; Ville Y; Malan V
    Eur J Med Genet; 2013 Sep; 56(9):502-5. PubMed ID: 23832107
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.
    Choi SA; Ko JM; Shin CH; Yang SW; Choi JS; Oh SK
    Eur J Pediatr; 2013 Aug; 172(8):1117-20. PubMed ID: 23559333
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
    Rio M; Royer G; Gobin S; de Blois MC; Ozilou C; Bernheim A; Nizon M; Munnich A; Bonnefont JP; Romana S; Vekemans M; Turleau C; Malan V
    Clin Genet; 2013 Jul; 84(1):31-6. PubMed ID: 23061379
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.
    Kluge ML; Graber E; Foley K; Hansen LV; Sellers HL; Milosevic D; Cradic KW; Grebe SK
    Eur J Endocrinol; 2020 Feb; 182(2):K7-K13. PubMed ID: 31804968
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Monozygotic twins discordant for Proteus syndrome.
    Brockmann K; Happle R; Oeffner F; König A
    Am J Med Genet A; 2008 Aug; 146A(16):2122-5. PubMed ID: 18627057
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Monozygotic twins discordant for neurofibromatosis 1.
    Kaplan L; Foster R; Shen Y; Parry DM; McMaster ML; O'Leary MC; Gusella JF
    Am J Med Genet A; 2010 Mar; 152A(3):601-6. PubMed ID: 20186797
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
    Chanes B; Arriaza M; Lacassie Y
    Am J Med Genet A; 2021 Apr; 185(4):1242-1246. PubMed ID: 33438813
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Monozygotic twins discordant for partial trisomy 1.
    Watson WJ; Katz VL; Albright SG; Rao KW; Aylsworth AS
    Obstet Gynecol; 1990 Nov; 76(5 Pt 2):949-51. PubMed ID: 2216262
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis.
    Chen CP; Chern SR; Wu PS; Chen SW; Lai ST; Wu FT; Town DD; Wang W
    Taiwan J Obstet Gynecol; 2020 Mar; 59(2):306-313. PubMed ID: 32127155
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A characterization of postzygotic mutations identified in monozygotic twins.
    Ouwens KG; Jansen R; Tolhuis B; Slagboom PE; Penninx BWJH; Boomsma DI
    Hum Mutat; 2018 Oct; 39(10):1393-1401. PubMed ID: 29980163
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the
    Inamdar AA; Diamond M; Shertz W
    Pediatr Dev Pathol; 2020; 23(5):392-398. PubMed ID: 32364436
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.
    Gilbert B; Yardin C; Briault S; Belin V; Lienhardt A; Aubard Y; Battin J; Servaud M; Philippe HJ; Lacombe D
    Prenat Diagn; 2002 Aug; 22(8):697-702. PubMed ID: 12210579
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
    Stamouli S; Anderlid BM; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer SW; Lichtenstein P; Tammimies K; Bölte S
    Twin Res Hum Genet; 2018 Feb; 21(1):1-11. PubMed ID: 29307321
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease.
    Lizzio RAU; Monfrini E; Romano S; Brescia G; Vujosevic S; Sacchi M; Di Fonzo A; Nucci P
    Eur J Ophthalmol; 2023 Jul; 33(4):NP1-NP4. PubMed ID: 35679086
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.
    Vincent MC; Heitz F; Tricoire J; Bourrouillou G; Kuhlein E; Rolland M; Calvas P
    Genet Couns; 1999; 10(1):43-9. PubMed ID: 10191428
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Monozygotic twins discordant for Ullrich-Turner syndrome.
    Kaplowitz PB; Bodurtha J; Brown J; Spence JE
    Am J Med Genet; 1991 Oct; 41(1):78-82. PubMed ID: 1951467
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.