Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 1

Results: 7

Molecular insights into malignant progression of atypical choroid plexus papilloma.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005272
By:
- Yankelevich, Maxim;
- Finlay, Jonathan L.;
- Gorsi, Hamza;
- Kupsky, William;
- Boue, Daniel R.;
- Koschmann, Carl J.;
- Kumar-Sinha, Chandan;
- Mody, Rajen
Publication type:
Article
Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005801
By:
- Pandya, Deep;
- Shah, Myra;
- Kaplan, Fuat;
- Martino, Candice;
- Levy, Gillian;
- Kazanjian, Mia;
- Batter, Stephen;
- Martignetti, John;
- Frank, Richard C.
Publication type:
Article
Identification of Leptotrichia goodfellowii infective endocarditis by next-generation sequencing of 16S rDNA amplicons.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005876
By:
- Lieberman, Joshua A.;
- Kyoko Kurosawa;
- SenGupta, Dhruba;
- Cookson, Brad T.;
- Salipante, Stephen J.;
- Busch, David
Publication type:
Article
Refractory alveolar rhabdomyosarcoma in an 11-year-old male.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005983
By:
- Ricker, Cora A.;
- Woods, Andrew D.;
- Simonson, William;
- Lathara, Melvin;
- Srinivasa, Ganapati;
- Rudzinski, Erin R.;
- Mansoor, Atiya;
- Irwin, Robert G.;
- Keller, Charles;
- Berlow, Noah E.
Publication type:
Article
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005363
By:
- Ing, Alexander;
- Wlodaver, Alissa;
- Kirschmann, Dawn;
- Toledo, Erica;
- McCabe, Christopher;
- Kadri, Sabah;
- McIntyre, Mary Kate;
- Salazar, Joanne;
- Firestein, Kristina;
- Charrow, Joel;
- Sanders, Victoria;
- Laguna, Theresa;
- Kai Lee Yap
Publication type:
Article
Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005934
By:
- Burlet, Bénédicte;
- Ramla, Selim;
- Fournier, Cyril;
- Abrey-Recalde, Maria Jimena;
- Sauter, Camille;
- Chrétien, Marie-Lorraine;
- Rossi, Cédric;
- Duffourd, Yannis;
- Ragot, Sylviane;
- Buriller, Céline;
- Tournier, Benjamin;
- Chapusot, Caroline;
- Nadal, Nathalie;
- Racine, Jessica;
- Guy, Julien;
- Bailly, François;
- Martin, Laurent;
- Casasnovas, Olivier;
- Bastie, Jean-Noël;
- Caillot, Denis
Publication type:
Article
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005454
By:
- Henslee, Gabrielle;
- Williams, Christopher L.;
- Pengfei Liu;
- Bertuch, Alison A.
Publication type:
Article

Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 1

Molecular insights into malignant progression of atypical choroid plexus papilloma.

Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.

Identification of Leptotrichia goodfellowii infective endocarditis by next-generation sequencing of 16S rDNA amplicons.

Refractory alveolar rhabdomyosarcoma in an 11-year-old male.

Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.

Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).

Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.