Results 121 to 130 of about 25,718 (237)

Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran

Case Reports in Clinical Practice
So far, different types of SOX5 variants have been reported in patients with LAMSHF syndrome, which are mainly clustered in the HMG domain. The LAMSHF syndrome has a broad variety of clinical manifestations such as developmental delay, speech delay ...
Akbar Amirfiroozy, Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi   +4 more
doaj   +1 more source

Improving Communication between Doctors and Parents after Newborn Screening [PDF]

, 2011
Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie, Collins, Jenelle, Eskra, Kerry, Farrell, Michael, Farrell, Philip M., Hoffman, Gary, Kennedy-Parker, Karen, La Pean, Alison, Panepinto, Julie, Tluczek, Audrey   +9 more
core   +2 more sources

Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India

Journal of Research in Medical Sciences, 2012
Background: Hemoglobinopathies are a group of inherited disorders of hemoglobin synthesis. It could be formed a fatal scenario in concern of lacking of actual information.
Bikash Mondal, Soumyajit Maiti, Biplab Kumar Biswas, Debidas Ghosh, Shyamapada Paul   +4 more
doaj  

Hemoglobinopathies [PDF]

Journal of Clinical Pathology, 1974
openaire   +1 more source

Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital [PDF]

Medical Laboratory Journal
Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants.
Parineeta Shelke, Preeti Doshi, Amit Nisal, Abdulrahaman Momin, Ravindra Nimbargi   +4 more
doaj  

Assessing Prognostic Factors in Hodgkin's Lymphoma: Multistate Illness-Death Model

International Journal of Hematology-Oncology and Stem Cell Research, 2018
Background: Hodgkin's lymphoma (HL) is a unique cancer of lymphocytes that has unknown reason. As lymphocytes are found throughout the lymphatic system, HL can start almost anywhere in the body.
Fatemeh Javanmardi, Amal Saki-Malehi, Ahmad Ahmadzadeh, Fakher Rahim   +3 more
doaj  

Beyond Iron Deficiency: An Atypical Peripheral Smear Revealing Hemoglobin C in an Adolescent. [PDF]

Cureus
Hamidine M, Awati M, Mehdi A.
europepmc   +1 more source

Correction to: Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping. [PDF]

Croat Med J
Erlich HA, Ko L, Lee J, Eaton K, Calloway CD, Lal A, Das R, Jamwal M, Lopez-Pena C, Mack SJ.   +9 more
europepmc   +1 more source

Rare Case Report of Hb J Meerut Hemoglobinopathy - a Hospital Insight in the Saurashtra-Kutch Region of Gujarat. [PDF]

Maedica (Bucur)
Anandani G, Goswami P, Bhankhodia V, Dangar A, Thesiya YM.   +4 more
europepmc   +1 more source

Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba

Revista Finlay
Foundation: prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Pri-mary Health Care, through hemoglobin electrophoresis to identify high-risk couples.
Yadira Valdés Fraser, Tatiana Acosta Sánchez, Jacqueline Pérez Rodríguez, Beatriz Suárez Besil, Sandra Bárbara Correa Jiménez   +4 more
doaj