Results 221 to 230 of about 2,747,199 (303)

Corrigendum to Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma. [PDF]

J Clin Invest
Zeng Y, Luo CL, Lin GW, Li F, Bai X, Ko JM, Xiong L, Liu Y, He S, Jiang JX, Yan WX, Ong EHW, Li Z, Zhou YQ, Zhou YH, Xu AY, Liu SQ, Guo YM, Chen JR, Cheng XX, Cao YL, Yu X, Wu B, Wei PP, Ruan ZH, Chen QY, Tang LQ, McKay JD, Jia WH, Mai HQ, Lim ST, Liu JJ, Lin DX, Khor CC, Chua MLK, Ji M, Lung ML, Zeng YX, Bei JX.   +38 more
europepmc   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum. [PDF]

Ophthalmol Sci
Jaju S, Sivagnanam J, Menon P, Nandini G R E, Shanmugam P, Jose A, Morris R, Ramasamy K, Venkatapathy N, Pandian J, Narendran S.   +10 more
europepmc   +1 more source

Clinical Translation of Patient‐Derived Organoids: Perspectives for Personalized Therapy in Cancer

International Journal of Cancer, EarlyView.
ABSTRACT Patient‐derived organoids (PDO) are accelerating precision medicine. These biological platforms allow for the autologous in vitro expansion of material from cancer patients in a considerably short period of time. These three‐dimensional models can faithfully recapitulate aspects of tissue heterogeneity, architecture, and relevant cellular ...
Haiyan Yue, Daniele Carchidi, Philipp Schmucker, Roland Seiler, Bernhard Kiss, Catarina Macedo‐Silva, Marianna Kruithof‐de Julio   +6 more
wiley   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report. [PDF]

JPGN Rep
Palan MJ, Simpson D, Miranda C, Hakar M, Lin HC.   +4 more
europepmc   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform. [PDF]

NPJ Precis Oncol
Waltman P, Chandra P, Eng KW, Wilkes DC, Park H, Pabon C, Delpe P, Bhinder B, Manohar J, Kane T, Fernandez E, Gorski K, Greco N, Simi M, Tang JM, Zisimopoulos P, King A, Al Assaad M, Ten Eyck T, Roberts D, Monge J, Demichelis F, Tam W, Ouseph MM, Sigaras A, Beltran H, Rennert H, Lindeman N, Song W, Solomon J, Mosquera JM, Kim R, Catalano J, Hassane DC, Sigouros M, Elemento O, Alonso A, Sboner A.   +37 more
europepmc   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source