Search Results

You are looking at 1 - 10 of 441 items for :

  • molecular testing x
Clear All
Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

, gastric motility issues, undescended testes, adrenal insufficiency CBX2 c.1411C>G p.(Pro471Ala) V Normal a A molecular diagnosis has not been confirmed. #Variant found in alternative transcript CBX2# c.616C>T p.(Gln206*) V Normal a

Open access

Klaudia Zajkowska, Janusz Kopczyński, Stanisław Góźdź and Aldona Kowalska

tumour should be examined to exclude the presence of papillary structures. In addition, secondary criteria (molecular testing for BRAF V600E and other high-risk mutations and immunohistochemistry for BRAF V600E) were added that may be helpful but are

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

clinical classes and genetic tests performed are listed on the y -axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY +/−, SRY presence/absence test; MLPA Intersex: MLPA

Open access

E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen and T Raivio

multifaceted and can be caused by genetic and environmental factors; especially, hypospadias and undescended testes have been linked to the actions of environmental agents ( 3 ). A family history with genital abnormalities, delayed puberty, infertility

Open access

Jordyn Silverstein, Wesley Kidder, Susan Fisher, Thomas A Hope, Samantha Maisel, Dianna Ng, Jessica Van Ziffle, Chloe E Atreya and Katherine Van Loon

mode of presentation, outcomes of the mother and fetus and treatment decisions ( 18 ). None of these prior studies have evaluated relevant factors of disease biology or molecular features of the tumors. Following our observation of five women who

Open access

Florian W Kiefer

molecular mechanisms that are responsible for the energy-dissipating qualities of brown fat have been studied in detail ( 4 , 5 ). Uncoupling protein-1 (UCP-1) has been identified as the key factor controlling the thermogenic capacity of brown adipocytes

Open access

Anello Marcello Poma, Riccardo Giannini, Paolo Piaggi, Clara Ugolini, Gabriele Materazzi, Paolo Miccoli, Paolo Vitti and Fulvio Basolo

-0288 20668010 25 Nikiforov YE Steward DL Robinson-Smith TM Haugen BR Klopper JP Zhu Z Fagin JA Falciglia M Weber K Nikiforova MN. Molecular testing for mutations in improving the fine-needle aspiration diagnosis of

Open access

Yuan Zhou, ShengNan Wang, Jing Wu, JianJun Dong and Lin Liao

breakthroughs of molecular genetic testing technology from 1990s, relevant studies have recognized that MODY comprises several different clinical syndromes of familial diabetes resulting from specific molecular defects ( 3 ). There are 14 genes that have been

Open access

Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

with unknown cause. The other family members were screened for the disease by CT or MRI, as well as hormonal testing. No abnormality was found. Figure 1 Representative CT scan, MRI scan and hematoxylin and eosin (H & E) staining of the presenting

Open access

Huy Gia Vuong, Uyen N P Duong, Ahmed M A Altibi, Hanh T T Ngo, Thong Quang Pham, Hung Minh Tran, Greta Gandolfi and Lewis Hassell

factors in PTCs, and some of them have been reported to associate with poor outcomes such as old age, large tumor size or distant metastasis ( 2 , 3 ). Recent progress in molecular analyses has improved our understanding of tumorigenesis and