Results 251 to 260 of about 1,221,619 (355)

Bioinformatics Methods in Medical Genetics and Genomics. [PDF]

Int J Mol Sci, 2020
Orlov YL, Baranova AV, Tatarinova TV.
europepmc   +1 more source

Medical genetics: advances in brief: Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder [PDF]

, 1992
David Fitzpatrick
openalex   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

Molecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková, Marie Ehrlichová, Alžběta Spálenková, Ivona Krus, Simona Šůsová, Viktor Hlaváč, Vlasta Němcová, Renata Koževnikovová, Markéta Trnková, David Vrána, Jiří Gatěk, Kateřina Kopečková, Marcela Mrhalová, Soňa Měšťáková, Pavel Souček   +14 more
wiley   +1 more source

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. [PDF]

Genes (Basel)
Vanderscheldon RK, Sukov WR, Gardner JA, Rehder CW, Levy B, Velagaleti GV, Toydemir RM, Tang G, Boles B, Cao Y, Mixon C, Zou YS, Astbury C, Tsuchiya KD, Peterson JF.   +14 more
europepmc   +1 more source

Medical genetics: advances in brief: ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes [PDF]

, 1993
Nalin Thakker
openalex   +1 more source

Medical genetics in India [PDF]

The Indian Journal of Pediatrics, 1986
openaire   +3 more sources

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

Molecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim, Sungwoo Bae, Jaeyong Choi, Sun‐Wha Im, Bukyoung Cha, Gyeongseo Jung, Sun Wook Cho, Eul‐Ju Seo, Young Ah Lee, Jin Chul Paeng, Young Joo Park, Jong‐Il Kim   +11 more
wiley   +1 more source

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Gordon AS, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Harrison SM, Hershberger RE, Richards CS, Stewart DR, Martin CL, Miller DT, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +13 more
europepmc   +1 more source

Medical genetics: advances in brief: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis [PDF]

, 1992
A. R. Norman
openalex   +1 more source

Chimeric diphtheria toxin–CCL8 cytotoxic peptide for breast cancer management

Molecular Oncology, EarlyView.
DTCCL8 is a recombinant fusion toxin that targets cancer cells expressing chemokine receptors. By combining diphtheria toxin with CCL8, DTCCL8 binds to multiple receptors on tumor cells and induces selective cytotoxicity. This strategy enables receptor‐mediated targeting of cancer and may support the development of chemokine‐guided therapeutics ...
Bernardo Chavez, Asieh Naderi, Kim‐Tuyen Huynh‐Dam, Vitali Sikirzhytski, Ioulia Chatzistamou, Hippokratis Kiaris   +5 more
wiley   +1 more source