Suchergebnisse - "Dosage sensitive genes"

PubPharm (29)

1

Comparative modeling reveals the molecular determinants of aneuploidy fitness cost in a wild yeast model

enthalten in: bioRxiv : the preprint server for biology | 2024

von Rojas, J. | Hose, J. | Auguste Dutcher, H. | +4

2

Aneuploidy in human cancer : new tools and perspectives

enthalten in: Trends in genetics : TIG | 2023

von Lakhani, A. | Thompson, S. | Sheltzer, J.

3

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

enthalten in: Brain : a journal of neurology | 2023

von Pipis, M. | Won, S. | Poh, R. | +11

4

Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies

enthalten in: Molecular syndromology | 2023

von Martínez Anaya, D. | Juárez-Velázquez, M. | Reyes Ruvalcaba, S. | +4

5

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance

enthalten in: Clinical genetics | 2023

von Leffler, M. | Christie, L. | Hackett, A. | +6

6

From X-inactivation to neurodevelopment : CHD8-transcription factors (TFs) competitive binding at regulatory regions of CHD8 target genes can contribute to correct neuronal differentiation

enthalten in: Current research in neurobiology | 2023

von Cerase, A. | Avner, P.

7

Dosage compensation evolution in plants : theories, controversies and mechanisms

enthalten in: Philosophical transactions of the Royal Society of London. Series B, Biological sciences | 2022

von Muyle, A. | Marais, G. | Bačovský, V. | +2

8

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome

enthalten in: European journal of medical genetics | 2021

von Abdala, B. | Gonçalves, A. | Dos Santos, J. | +9

9

Autism Spectrum Disorders : Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics

enthalten in: Genes | 2021

von Cupaioli, F. | Fallerini, C. | Mencarelli, M. | +5

10

A high-content drug screening strategy to identify protein level modulators for genetic diseases : A proof-of-principle in autosomal dominant leukodystrophy

enthalten in: Human mutation | 2021

von Giorgio, E. | Pesce, E. | Pozzi, E. | +10