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Genomic landscape of TP53-mutated myeloid malignancies.

Abel(HJ),Oetjen(KA),Miller(CA),Ramakrishnan(… Blood Adv 2023-00-22

...NF1 are highly enriched, with deletions of 1 copy of NF1 present in 45% of cases and biallelic mutations in 17%. Telomer...

Population-specific facial traits and diagnosis accuracy of genetic and rare di…

Echeverry-Quiceno(LM),Candelo(E),Gómez(E),So… Sci Rep 2023-00-27

...NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls ...

Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse…

Kosako(H),Yamashita(Y),Tanaka(K),Mishima(H),… Medicina (Kaunas) 2022-12-12

...NF1 are limited, although the most common are brain tumors. Case presentation: A 22-year-old woman with NF1 was admitted...

Dermatological manifestations, management, and care in RASopathies.

Kavamura(MI),Leoni(C),Neri(G) Am J Med Genet C Semin Med Ge… 2022-00-00

...NF1), Legius syndrome, Noonan-like syndrome with loose anagen hair (NSLH) and Noonan syndrome. As NF1, one of the most c...

Development and evaluation of niacinamide transdermal formulation by artificial…

Sohn(JS),Choi(JS) Saudi Pharm J 2023-07-00

...NF1 were altered. Moreover, NF1 maintained a stable drug content, appearance, and pH value for 12 months. In conclusion,...

The genetic polymorphisms at the promoter region of HLA-DQB1 gene, creating res…

Saify(K) Mol Biol Res Commun 2023-00-00

...NF1/CTF and the C allele at the -80 position changes the TFII-D binding site into a GR-alpha response element. The NF1/C...

A novel missense KIT mutation causing piebaldism in one Chinese family associat…

Jia(Wei-Xue),Xiao(Xue-Min),Wu(Jian-Bing),Ma(… Ther Clin Risk Manag 2015-05-11

...NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were p...

Retroperitoneal malignant peripheral nerve sheath tumor in a patient with neuro…

Qian(L),Ye(X),Sun(J) BMC Surg 2026-01-12

...NF1) and have a poor prognosis due to high rates of recurrence and metastasis. We report a case of a 30-year-old female ...

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour s…

Pasmant(E),Gilbert-Dussardier(B),Petit(A),de… Oncogene 2015-04-10

...NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in ...

The neurofibromin recruitment factor Spred1 binds to the GAP related domain wit…

Dunzendorfer-Matt(Theresia),Mercado(Ellen L)… Proc Natl Acad Sci U S A 0000-00-00

Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with partially overlapping symptoms caused by al...

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