Suchergebnisse - "Humans"

PubPharm (18)

1

Ovarian carcinoma in children with constitutional mutation of SMARCA4 : single-family report and literature review

enthalten in: Familial cancer | 2021

von Pastorczak, A. | Krajewska, K. | Urbanska, Z. | +5

2

Ovarian small cell carcinoma in one of a pair of monozygous twins

enthalten in: Familial cancer | 2019

von Fahiminiya, S. | Sabbaghian, N. | Albrecht, S. | +3

3

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer

enthalten in: Familial cancer | 2017

von Marafie, M. | Dashti, M. | Al-Mulla, F.

4

The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type : two new familial cases

enthalten in: Familial cancer | 2017

von Witkowski, L. | Donini, N. | Byler-Dann, R. | +6

5

The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling : a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance

enthalten in: Familial cancer | 2015

von Varga, E. | Chao, E. | Yeager, N.

6

MLH1 promotor hypermethylation does not rule out a diagnosis of Lynch syndrome : a case report

enthalten in: Familial cancer | 2015

von Raymond, V. | Morris, A. | Hafez, K. | +1

7

Muir-Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

enthalten in: Familial cancer | 2014

von Ponti, G. | Pellacani, G. | Ruini, C. | +6

8

Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome

enthalten in: Familial cancer | 2012

von Takahashi, M. | Furukawa, Y. | Shimodaira, H. | +5

9

Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

enthalten in: Familial cancer | 2012

von Lindor, N. | Smyrk, T. | Buehler, S. | +5

10

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

enthalten in: Familial cancer | 2012

von Farrell, M. | Hughes, D. | Berry, I. | +17