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Genomic and transcriptomic landscape of conjunctival melanoma.

Cisarova(K),Folcher(M),El Zaoui(I),Pescini-G… PLoS Genet 2020-00-00

...NF1, RAS, and triple wild-type. In line with these results, transcriptomic analyses revealed similarities with CM as wel...

Prevalence of Homologous Recombination Pathway Gene Mutations in Melanoma: Rati…

Kim(KB),Soroceanu(L),de Semir(D),Millis(SZ),… J Invest Dermatol 2021-00-00

...NF1, BRAF, and NRAS mutations were found in 39%, 39%, and 22% of cases, respectively. HR-DDR gene mutation was associate...

The radiogenomic and spatiogenomic landscapes of glioblastoma and their relatio…

Fathi Kazerooni(A),Akbari(H),Hu(X),Bommineni… Commun Med (Lond) 2025-03-01

...NF1 and their corresponding pathways. Machine and deep learning models were used to identify imaging biomarkers and stra...

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Sama(AD),Avci Durmusalioglu(E),Isik(E),Turku… Arch Dermatol Res 2025-03-01

...NF1, COL7A1, ITGB4, COL17A1, NIPAL4, ALOX12B, KRT10, ST14, OCA2, and PTEN, highlighting the diagnostic value of comprehe...

Systemic Review and Meta-analysis of the Intellectual Integrity of Children wit…

Al-Farsi(FAH),Al-Alyani(OBS),Al-Kumzari(A),A… World Neurosurg 2022-00-00

...NF1 and 443 control participants were included in this meta-analysis. The average and standard deviation of the age was ...

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Def…

Yu(C),Xie(B),Zhao(Z),Zhao(S),Liu(L),Cheng(X)… Front Endocrinol (Lausanne) 2021-00-00

...NF1 [c.2329T>A, c.7131C>G], GHRHR [c.731G>A], STAT5B [c.1102delC], HRAS [c.187_207dup]). By mutational burden analysis o...

Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis…

Wallander(K),Lin(Y),Ivanchuk(V),Difilippo(V)… J Mol Diagn 2026-02-00

...NF1 translocation and a TSC2::SENP3 fusion, both clinically significant. OGM is a technically robust platform for SV and...

Therapeutic Resistance in Melanoma: Molecular Mechanisms and Emerging Pharmaceu…

Moussallem(N),Awada(A),El Darzi(R),Tarhini(A… Pharmaceuticals (Basel) 2026-09-14

...NF1, CDKN2A, and PTEN, and explain how dysregulation of the MAPK and PI3K/AKT/mTOR signaling axes drives therapeutic esc...

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nu…

Chauhan(B),Prajapati(NA),Sagarkar(S),Menon(P… Cureus 2025-11-00

...NF1, NRAS, PPPC1B, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS2, and SPRED1. Thus, we describe a novel gene-human fetal ...

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repa…

Munteanu(CV),Lighezan(DL),Capcelea(A),Chiriț… Oncol Rev 2025-00-00

...NF1-like cutaneous features. The PMS2-related subtype (PMS2-CMMRD) is the most common molecular form of CMMRD, exhibitin...

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