Alvaro H Serrano Russi
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Explore the profile of Alvaro H Serrano Russi including associated specialties, affiliations and a list of published articles.
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5
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67
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Recent Articles
1.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med
. 2024 Dec;
27(3):101348.
PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
2.
Ng B, A Eklund E, Shiryaev S, Dong Y, Abbott M, Asteggiano C, et al.
J Inherit Metab Dis
. 2020 Jul;
43(6):1333-1348.
PMID: 32681751
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants...
3.
Ferreira C, Zein W, Huryn L, Merker A, Berger S, Wilson W, et al.
Genet Med
. 2020 Jan;
22(5):857-866.
PMID: 31949312
Purpose: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence,...
4.
Ferreira C, Xia Z, Clement A, Parry D, Davids M, Taylan F, et al.
Am J Hum Genet
. 2018 Oct;
103(4):553-567.
PMID: 30290151
The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). We...
5.
Hu J, Madan-Khetarpal S, Serrano Russi A, Kochmar S, DeWard S, Sathanoori M, et al.
Genet Res Int
. 2012 May;
2011:185271.
PMID: 22567345
We characterized three supernumerary marker chromosomes (SMCs) simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three...