Results 201 to 210 of about 114,676 (292)

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. [PDF]

Intern Med
Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T.   +8 more
europepmc   +1 more source

A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome. [PDF]

Surg Case Rep, 2022
Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.   +12 more
europepmc   +1 more source

Three-Year Experience of an External Proficiency Testing Survey for Next-Generation Sequencing-Based Testing for Germline Mutation

, 2020
Moon‐Woo Seong, Manjin Kim, Ho-Seob Shin, Sung Im Cho, Sung Sup Park   +4 more
openalex   +2 more sources

Juvenile polyposis in a SMAD4‐mutated child: A call for early surveillance

JPGN Reports, EarlyView.
Abstract We report the case of a 10‐year‐old boy with hereditary hemorrhagic telangiectasia (HHT) and a family history of SMAD4‐related juvenile polyposis syndrome (JPS), presenting with hypoferritinaemia unresponsive to oral supplementation. Endoscopic evaluation revealed multiple gastrointestinal polyps, including duodenal, gastric, and colonic ...
Claudia Lorusso, Giuseppe Lassandro, Stefania Castellaneta, Valentina Palladino, Giovanni la Grasta, Vanessa Nadia Dargenio, Vittorio Labriola, Alberto Gaeta, Paola Giordano, Fernanda Cristofori, Ruggiero Francavilla   +10 more
wiley   +1 more source

Germline mutation rate predicts cancer mortality across 37 vertebrate species. [PDF]

Evol Med Public Health
Kapsetaki SE, Compton ZT, Mellon W, Vincze O, Giraudeau M, Harrison TM, Abegglen LM, Boddy AM, Maley CC, Schiffman JD.   +9 more
europepmc   +1 more source

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 [PDF]

, 2014
Hande Koçak, Bari J. Ballew, Kamlesh Bisht, Rebecca Eggebeen, Belynda Hicks, Shalabh Suman, Adri O’Neil, Neelam Giri, Ivan Maillard, Blanche P. Alter, Catherine E. Keegan, Jayakrishnan Nandakumar, Sharon A. Savage, Sharon A. Savage   +13 more
openalex   +1 more source

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, EarlyView.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source

Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma/paraganglioma syndrome. [PDF]

Front Endocrinol (Lausanne)
Lian B, Lu J, Fang X, Zhang Y, Wang W, He Y, Yu H, Li F, Wang J, Chen W, Qi X.   +10 more
europepmc   +1 more source

Applicability of Novel Laser Scanning Microscopy Techniques in Demonstrating Characteristic Features of Porokeratosis: In Vivo and Ex Vivo Investigation

JEADV Clinical Practice, EarlyView.
ABSTRACT Background Porokeratoses represent a group of keratinization disorders characterized histopathologically by the presence of a cornoid lamella. The recognition of porokeratosis as a genodermatosis, along with its association with increased risk of skin cancer, underscores the importance of accurate and timely diagnosis.
Rahime Inci, Noora Neittaanmäki, Jeemol James, Marica B. Ericson, Sirkku Peltonen, Despoina Kantere   +5 more
wiley   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source