Renal cell carcinoma associated with Xp11. 2 translocation/transcription factor E3 gene fusion: an adult case report and literature review

Y Wang, Y Wang, M Feng, X Lian… - … Medical Research, 2020 - journals.sagepub.com
… an adult patient with TFE3-related RCC who underwent left retroperitoneal laparoscopic
partial nephrectomy. The pathologic diagnosis demonstrated MiT family translocation RCC:Xp11…

Epigenetics

R Weksberg, DT Butcher, C Cytrynbaum, MT Siu… - Emery and Rimoin's …, 2019 - Elsevier
… It is hypothesized that the X and Y chromosomes evolved from … Although cytogenetically
detectable abnormalities involving … These can be recognized from a positive family history or an …

Causes of Congenital Malformations

M Lammens, M Bekker, M Willemsen, M Bugiani… - … Disorders of the Human …, 2023 - Springer
… Upon collection of the samples from patient and family … ) combines chromosome analysis
with a molecular technique … in cases where the clinical diagnosis is ambiguous, the disease is …

[HTML][HTML] Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management

X Yang, L Yang - Frontiers in Medicine, 2023 - frontiersin.org
… through different prospective cytogenetic constitutions. In … to be associated with non-familial
POF patients (33). By … , while the latter mechanism is still unclear (131). Generally, the …

[PDF][PDF] News in the WHO 2022 classifica-tion of urothelial neoplasms

SM Stojnev, MS Krstić, AVR Petrović, IG Conić… - aseestant.ceon.rs
… -year-old gentleman with a family history of colorectal cancer who … in situ hybridization (FISH)
and cytogenetic results. … secondary to a paracentric inversion on chromosome 12q13 and …

The investigation of cell free DNA and genetic causes in the evaluation of miscarriage

EC Colley - 2021 - etheses.bham.ac.uk
… samples had a corresponding routine cytogenetic result. 54 % of … patient impact with respect
to counselling and treatment. … I would like to dedicate this thesis to my family, especially my …

[图书][B] Creasy-Resnik's Study Guide for Maternal Fetal Medicine E-Book

CJ Lockwood, T Moore, J Copel, RM Silver, R Resnik… - 2023 - books.google.com
… This region of the X and Y chromosome is called the … Additional screening may be tailored
to family history and … respectively, for cytogenetic analysis and molecular genetic testing where …

Diagnostic approach in TFE3-rearranged renal cell carcinoma: a multi-institutional international survey

M Akgul, SR Williamson, D Ertoy, P Argani… - Journal of clinical …, 2021 - jcp.bmj.com
family translocation-associated renal cell carcinoma (RCC).1 Although initially described in
paediatric patients,… lack of consensus in the use of cytogenetics in the diagnosis of TFE3-RCC…

Deletion 22q13 syndrome: Phelan–McDermid syndrome

K Phelan, RC Rogers, L Boccuto - Cassidy and Allanson's …, 2021 - Wiley Online Library
… within ring chromosomes by cytogenetic methods. Thus, FISH… a bath room stall or family
changing room while their diaper … During adolescence both patients presented with catatonia, …

[PDF][PDF] 4 WORD OF THE GUEST EDITOR 5 LIST OF CONTRIBUTORS 6 PLENARY LECTURES

J Sopta, L Veličković, M Mijović, N Tomanović… - ARCHIVE of Oncology … - researchgate.net
… -year-old gentleman with a family history of colorectal cancer who … in situ hybridization (FISH)
and cytogenetic results. … secondary to a paracentric inversion on chromosome 12q13 and …