Results 71 to 80 of about 19,163,396 (329)

FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS

Pakistan Armed Forces Medical Journal, 2020
Objective: To detect the calreticulin gene mutation in myeloproliferative neoplasms and its clinicohaematological correlation. Study Design: Cross sectional study.
Sana Latif, Saleem Ahmed Khan, Asad Mahmood, Helen Mary Robert, Rafia Mahmood   +4 more
doaj   +4 more sources

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

Current limitations of cryogenic microwave oscillator frequency stability

, 2014
Technical paperCryogenic microwave oscillators built upon sapphire loaded cavity resonators exhibit excellent levels of frequency stability. Here we present an overview of the current understanding of the various processes and noise sources that limit ...
Parker, S., John G. Hartnett, Stephen R. Parker, Ivanov, E., Tobar, M., Michael E. Tobar, Hartnett, J., Eugene N. Ivanov   +7 more
core   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Gene Frequency and Heritability of Rh Blood Group Gene in 44 Human Populations

Notulae Scientia Biologicae, 2010
The frequency of RhD and Rhd alleles of Rh blood group gene was estimated in 44 human populations distributed all over the world from the RhD phenotypic data.
Supriyo CHAKRABORTY
doaj   +3 more sources

Polymorphism of Pramenka sheep hemoglobin in Central Bosnia [PDF]

Journal of Agricultural Sciences (Belgrade), 2015
The study of the hemoglobin polymorphism was performed on blood samples, taken from areas inhabited by Pramenka sheep in Central Bosnia: the area of the mountain Vlašić, the upper flow of the river Vrbas and Kupres plateau. Dupska pramenka sheep
Važić Božo S., Rogić Biljana S., Drinić Milanka S., Savić Nebojša M.   +3 more
doaj   +1 more source

Gene Frequency Clines in the Presence of Selection Opposed by Gene Flow

American Naturalist, 1975
Suppose we have a cline in gene frequency which results from spatially varying selection forces (which tend to establish the cline) opposed by gene flow (which tends to blur the cline).
R. May, J. Endler, R. McMurtrie
semanticscholar   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles [PDF]

, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process.
Shim, Jae-Hyuck, Delai, Patricia L R, Madhuri, Vrisha, De Cunto, Carmen L, de Ruiter, Ruben D, Schoenmaker, Ton, Zasloff, Michael, Friedman, Clive S, Gao, Guangping, Cho, Tae-Joon, Morhart, Rolf, Grunwald, Zvi, di Rocco, Maja, Haga, Nobuhiko, de Vries, Teun J, Hsiao, Edward C, Pals, Gerard, Netelenbos, Coen, Diecidue, Robert J, Kaplan, Frederick, Smilde, Bernard J, Scott, Christiaan, Eekhoff, Elisabeth M W, Pignolo, Robert J, Micha, Dimitra   +24 more
core   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source