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Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletion…

Mammadova(N),Yildirim(AB),Sevim(DG),Bozkurt(… Mol Biol Rep 2025-09-22

...NF1 were detected at the 17q11.2 locus. A novel homozygous nonsense variant (c.753G > A, p.Trp251Ter) in the VSX2 gene w...

Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome…

Li(Y),Hu(X),Chen(X),Cheng(Y),Jiang(Y),Wang(X) Front Neurol 2025-00-00

...NF1), and Sturge-Weber syndrome (SWS), and others. The incidence of epilepsy, a core clinical manifestation, is signific...

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the…

Kim(J),Gianferante(M),Karyadi(DM),Hartley(SW… JNCI Cancer Spectr 2021-04-00

...NF1, SUFU, TSC1, PTCH2), Wilms tumor (WT1, REST), non-Hodgkin lymphoma (PMS2), and soft tissue sarcomas (SDHB, DICER1, T...

Genetic Profiling of Cell-Free DNA From Pleural Effusion in Advanced Lung Cance…

Tu(HY),Li(YS),Bai(XY),Sun(YL),Zheng(MY),Ke(E… Clin Lung Cancer 2022-00-00

...NF1. For clinically actionable mutations, the concordance rate between PE-cfDNA and tumor tissue is 87%. Eleven patients...

Implication and Influence of Multigene Panel Testing with Genetic Counseling in…

Park(JS),Shin(S),Lee(YJ),Lee(ST),Nam(EJ),Han… Cancer Res Treat 2022-10-00

...NF1, and RAD51D, were observed in 7.4%. Patients who completed the questionnaire showed decreased concerns about the ris...

A high-throughput nonisotopic protein truncation test.

Gite(S),Lim(M),Carlson(R),Olejnik(J),Zehnbau… Nat Biotechnol 2003-02-00

...NF1 and NF2 (neurofibromatosis), and DMD (Duchenne muscular dystrophy). Such chain-truncating mutations can be detected ...

JC virus load in cerebrospinal fluid and transcriptional control region rearran…

Delbue(S),Elia(F),Carloni(C),Tavazzi(E),Marc… J Cell Physiol 2012-10-00

...NF1 sequence was found most commonly, whereas the Sp1 binding site was the most common for both CPML patients and HIV-1 ...

Gene expression profiling of metastatic brain cancer.

Zohrabian(VM),Nandu(H),Gulati(N),Khitrov(G),… Oncol Rep 2007-08-00

...NF1), and angiogenesis-related genes vascular endothelial growth factor-B (VEGF-B) and placental growth factor (PGF) was...

Metabolomic profile of the adrenal gland: from physiology to pathological condi…

Imperiale(A),Elbayed(K),Moussallieh(FM),Reix… Endocr Relat Cancer 2013-10-00

...NF1-related PCC samples exhibited both adrenaline and noradrenaline secretion. In the von Hippel-Lindau disease-related ...

Whole exome sequencing is an efficient and sensitive method for detection of ge…

McInerney-Leo(AM),Marshall(MS),Gardiner(B),B… Clin Endocrinol (Oxf) 2014-01-00

...NF1, VHL, SDHD, SDHB, SDHC, SDHA, SDHAF2, KIF1B, TMEM127, EGLN1 and MAX. Target capture of five exome capture platforms ...

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