Results 121 to 130 of about 3,120,324 (401)

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Human Genome Variation
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis.
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura   +10 more
doaj   +1 more source

Evaluating and Enhancing Japanese Large Language Models for Genetic Counseling Support: Comparative Study of Domain Adaptation and the Development of an Expert-Evaluated Dataset

JMIR Medical Informatics
BackgroundAdvances in genetics have underscored a strong association between genetic factors and health outcomes, leading to an increased demand for genetic counseling services.
Takuya Fukushima, Masae Manabe, Shuntaro Yada, Shoko Wakamiya, Akiko Yoshida, Yusaku Urakawa, Akiko Maeda, Shigeyuki Kan, Masayo Takahashi, Eiji Aramaki   +9 more
doaj   +1 more source

Barriers to the utilization of genetic testing and genetic counseling in patients with suspected hereditary breast and ovarian cancers

Proceedings, 2019
A heritable condition is the identified cause of cancer in 5% to 10% of women with breast cancer and in 25% of women with ovarian cancer. It is critical to identify patients at risk for inherited genetic mutations to implement risk-reducing screening and
Alicia Swink, A. Nair, Pamela Hoof, A. Matthews, C. Burden, Kelly Johnson, J. Blum   +6 more
semanticscholar   +1 more source

Multiplex single‐cell profiling of putative cancer stem cell markers ALDH1, SOX9, SOX2, CD44, CD133 and CD15 in endometrial cancer

Molecular Oncology, EarlyView.
Cancer stem cells are associated with aggressive disease, but a deep characterization of such markers is lacking in endometrial cancer. This study uses imaging mass cytometry to explore putative cancer stem cell markers in endometrial tumors and corresponding organoid models.
Hilde E. Lien, Marta E. Hjelmeland, Hege F. Berg, Rose M. Gold, Kathrine Woie, Lars A. Akslen, Ingfrid S. Haldorsen, Camilla Krakstad   +7 more
wiley   +1 more source

Outcomes of Genetic Testing in a Genitourinary Genetics Clinic [PDF]

, 2018
Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited ...
Pace, Annelise
core   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Peripheral blood proteome biomarkers distinguish immunosuppressive features of cancer progression

Molecular Oncology, EarlyView.
Immune status significantly influences cancer progression. This study used plasma proteomics to analyze benign 67NR and malignant 4T1 breast tumor models at early and late tumor stages. Immune‐related proteins–osteopontin (Spp1), lactotransferrin (Ltf), calreticulin (Calr) and peroxiredoxin 2 (Prdx2)–were associated with systemic myeloid‐derived ...
Yeon Ji Park, Jae Won Oh, Hyewon Chung, Jung Won Kwon, Yi Rang Na, Kwang Pyo Kim, Seung Hyeok Seok   +6 more
wiley   +1 more source

CHROMOSOME ANALYSIS BEFORE BIRTH AND ITS VALUE IN GENETIC COUNSELLING [PDF]

, 1972
M Ferguson-Smith, M.A. Ferguson‐Smith, N. C. Nevin, Malcolm Stone   +3 more
openalex   +1 more source

Genetic Counseling in Retinitis Pigmentosa [PDF]

, 1972
During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient ...
Noah, Van B.
core   +1 more source

Classification of acute myeloid leukemia based on multi‐omics and prognosis prediction value

Molecular Oncology, EarlyView.
The Unsupervised AML Multi‐Omics Classification System (UAMOCS) integrates genomic, methylation, and transcriptomic data to categorize AML patients into three subtypes (UAMOCS1‐3). This classification reveals clinical relevance, highlighting immune and chromosomal characteristics, prognosis, and therapeutic vulnerabilities.
Yang Song, Zhe Wang, Guangji Zhang, Jiangxue Hou, Kaiqi Liu, Shuning Wei, Yan Li, Chunlin Zhou, Dong Lin, Min Wang, Hui Wei, Jianxiang Wang, Tao Cheng, Yingchang Mi   +13 more
wiley   +1 more source