Results 11 to 20 of about 444,809 (263)

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study [PDF]

, 2022
Background: Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder resulting in extremely elevated low-density lipoprotein cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD).
Hovingh, G Kees, Blom, Dirk J, Freiberger, Tomas, Raal, Frederick J., Hartgers, Merel L, Ray, Kausik, Vallejo-Vaz, Antonio J, Raal, Frederick, Vallejo-Vaz, Antonio, Tromp, Tycho R, Bertolini, Stefano, Tromp, Tycho, Vallejo-Vaz, Antonio J., Tromp, Tycho R., Ray, Kausik K., Soran, Handrean, Harada-Shiba, Mariko, Blom, Dirk, Ray, Kausik K, Raal, Frederick J, Blom, Dirk J., Hartgers, Merel, Cuchel, Marina, Hartgers, Merel L., Hovingh, Kees   +24 more
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Prevalence of priapism and its awareness amongst male homozygous sickle cell patients in Lagos [PDF]

, 2013
Background. Priapism is a pathological condition of penile erection that persists beyond, or is unrelated to, sexual stimulation. Impotence and infertility are major problems in male sickle cell disease patients, and priapism has been implicated as a ...
John-olabode, Sarah, Oshinaike, Olajumoke, Osikomaiya, Bodunrin, Akinbami, Akinsegun, Dosunmu, Adedoyin, Adediran, Adewumi, Wright, Kikelomo   +6 more
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Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

Clinical Case Reports, 2023
Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid
Amal Chamli, Anissa Zaouak, Refka Frioui, Samy Fenniche, Houda Hammami   +4 more
doaj   +1 more source

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

Frontiers in Neurology, 2021
Dominant pathogenic variations in the SCN1A gene are associated with several neuro developmental disorders with or without epilepsy, including Dravet syndrome (DS).
Ana Victoria Marco Hernández, Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez, Francisco Martinez   +7 more
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Patient with homozygous familial hypercholesterolemia: difficult to treat. Case report

, 2020
Homozygous familial hypercholesterolemia is a severe genetic disorder characterized by extremely high levels of total cholesterol and low-density lipoprotein cholesterol (LDL-C), as well as by rapid atherosclerosis progression in various vascular ...
Andrey V. Susekov, Irina V. Leontieva, Balakhonova T.V., Vladislav M. Soloviev, Irina M. Miklashevich, Yuliia S. Isaeva   +5 more
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Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state

Journal of Applied Hematology, 2022
CONTEXT: Fetal hemoglobin (HbF) reduces to
Promil Jain, Nisha Marwah, Niti Dalal, Richa Pawar, Meenu Gill, Sanjay Kumar   +5 more
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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Clemen, Christoph S, Johnson, Katherine, De Ridder, Willem, Clemen, CS, Topf, Ana, De Ridder, W, Maudsley, S, De Jonghe, Peter, Töpf, A, Eichinger, L, Schröder, Rolf, De Bleecker, Jan, Hofmann, A, Clemen, Christoph S., Straub, V, Azmi, Abdelkrim, Hofmann, Andreas, Johnson, K, Baets, J, Azmi, A, Schröder, R, De Bleecker, Jan L., Straub, Volker, De Bleecker, Jan L, Eichinger, Ludwig, Maudsley, Stuart, Baets, Jonathan, Schroeder, Rolf, De Jonghe, P   +28 more
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Homozygous viability in TRiP lines.

, 2022
Homozygous viability in TRiP lines.
Michael Stern (150242), Pratibha Singh (320486), Kevin van der Graaf (14259532), James A. McNew (14259535), Saurabh Srivastav (9585817)   +4 more
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Distinguishing HapMap Accessions Through Recursive Set Partitioning in Hierarchical Decision Trees

Frontiers in Plant Science, 2021
The HapMap (haplotype map) projects have produced valuable genetic resources in life science research communities, allowing researchers to investigate sequence variations and conduct genome-wide association study (GWAS) analyses. A typical HapMap project
Wenchao Zhang, Yun Kang, Xiaofei Cheng, Jiangqi Wen, Hongying Zhang, Ivone Torres-Jerez, Nick Krom, Michael K. Udvardi, Wolf-Rüdiger Scheible, Patrick Xuechun Zhao   +9 more
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Specific delivery to mitochondria of AtBT1 complements the aberrant growth and sterility phenotype of homozygous Atbt1 Arabidopsis mutants [PDF]

, 2017
Trabajo presentado en el XIV Congreso de la Sociedad Española de Biología Celular, celebrado en Torremolinos del 12 al 15 de diciembre de 2011.Kirchberger et al. (2008) have shown that homozygous AtBT1::T-DNA Arabidopsis mutants display
Li, Jun, Bahaji, Abdellatif, Pozueta-Romero, Javier, Hidalgo, Maite, Ezquer, Ignacio, Muñoz Pérez, Francisco José, Baroja-Fernández, Edurne, Sesma, María Teresa, Montero, Manuel, Almagro, Goizeder, Ovecka, Miroslav   +10 more
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