Results 41 to 50 of about 667,716 (192)

Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes

Endocrinology, Diabetes & Metabolism, 2019
Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms.
Vincent Larouche, Amit Akirov, Emily Thain, Raymond H. Kim, Shereen Ezzat   +4 more
doaj   +1 more source

Medical Genetics in Peru

Public Health Genomics, 2004
Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state’s health policy does not contemplate any action on congenital or genetic conditions, and genetic ...
openaire   +3 more sources

Finger stick blood collection for gene expression profiling and storage of tempus blood RNA tubes [version 2; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai, Esperanza Anguiano, Phuong Nguyen, Damien Chaussabel   +3 more
doaj   +1 more source

The morality of assisted reproduction and genetic manipulation

Cadernos de Saúde Pública
The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement) are those
Maurizio Mori
doaj  

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

F1000Research, 2017
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen   +18 more
doaj   +1 more source

Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study

BMC Medical Education
Background Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah, Sadin A. Alamri, Manal M. Alzahrani, Aseel A. Alamri, Muhammad A. Khan, Mehenaz A. Hanbazazh   +5 more
doaj   +1 more source

Assessment of TSPO Gene Expression Levels in Colorectal Cancer Tumors: A Paired Sample Study

Cancer Reports
Background and Aim Colorectal cancer (CRC) is the second leading cause of cancer‐related deaths. Early detection through screening is crucial for improving treatment outcomes.
Hamidreza Karami Gorji, Mehdi Karimi, Masoud Mortezazadeh, Niyousha Shirsalimi, Sheyda Akhshabi, Alireza Yousefi Ladmakhi, Mehdi Kashani, Seyyed Taher Seyyed Mahmoudi, Abbas Mofidi, Abolhasan Rezaei   +9 more
doaj   +1 more source

New Aspects of Human Genetics Edited by C. E. Ford and H. Harris. British Medical Bulletin, 25: 1, 1969. Medical Department of the British Council, London. 118 pages; tables and illustrations. 28 × 22 cm. £ 2 ($ 6.50). [PDF]

, 1969

openalex   +1 more source

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

Journal of Advances in Medical Education and Professionalism, 2014
Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests.
MAHDI BIJANZADEH
doaj  

Triagem neonatal: o que os pediatras deveriam saber Newborn screening: what pediatricians should know

Jornal de Pediatria, 2008
OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal.
Letícia Lima Leão, Marcos José Burle de Aguiar   +1 more
doaj   +1 more source