Suchergebnisse - "CHEK2 protein, human"

PubPharm (1.467)

1

CHEK2 Founder Variants and Thyroid Cancer Risk

enthalten in: Thyroid : official journal of the American Thyroid Association | 2024

von Brock, P. | Liynarachchi, S. | Nieminen, T. | +11

2

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

enthalten in: The Journal of pathology | 2024

von Sanoguera-Miralles, L. | Llinares-Burguet, I. | Bueno-Martínez, E. | +8

3

Germline CHEK2 mutations in patients with myeloid neoplasms

enthalten in: Leukemia | 2024

von Freiman, L. | Larcher, L. | Tueur, G. | +10

4

Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400

enthalten in: Journal of medical genetics | 2024

von Woodward, E. | Lalloo, F. | Forde, C. | +8

5

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function

enthalten in: The Journal of biological chemistry | 2024

von Pires, C. | Marques, I. | Valério, M. | +13

6

The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families

enthalten in: Breast (Edinburgh, Scotland) | 2024

von Schreurs, M. | Ramón Y Cajal, T. | Adank, M. | +5

7

Correspondence on "Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2 : A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Hanson et al

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Stern, R.

8

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

enthalten in: Clinical chemistry | 2024

von Sanoguera-Miralles, L. | Valenzuela-Palomo, A. | Bueno-Martínez, E. | +11

9

Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants

enthalten in: Breast cancer research and treatment | 2024

von Schwartz, C. | Khorsandi, N. | Blanco, A. | +3

10

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers : Association to CHEK2 and PALB2 germline mutations

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2024

von Infante, M. | Arranz-Ledo, M. | Lastra, E. | +6

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