Jun Takayama
Overview
Explore the profile of Jun Takayama including associated specialties, affiliations and a list of published articles.
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Articles
53
Citations
1073
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Recent Articles
1.
Iwafuchi S, Uchida N, Saijo N, Sogi C, Kamimura M, Takayama J, et al.
Clin Pediatr Endocrinol
. 2025 Jan;
34(1):60-65.
PMID: 39777136
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia...
2.
Suzuki T, Ninomiya K, Funayama T, Okamura Y, Tadaka S, Kinoshita K, et al.
Genes Genet Syst
. 2024 Oct;
99.
PMID: 39462538
Next-generation sequencing (NGS) has become widely available and is routinely used in basic research and clinical practice. The reference genome sequence is an essential resource for NGS analysis, and several...
3.
Saijo N, Yaoita H, Takayama J, Ota C, Kawai E, Kimura M, et al.
Am J Med Genet A
. 2024 Oct;
197(3):e63906.
PMID: 39425509
Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which...
4.
Sato D, Kirikae H, Nakano T, Katayama S, Yaoita H, Takayama J, et al.
Pediatr Hematol Oncol
. 2024 Sep;
41(8):541-556.
PMID: 39318204
Persistent thrombocytopenia is caused by various diseases, including immune thrombocytopenia, inherited thrombocytopenia, and inherited bone marrow failure syndromes. Considering the large number of genes responsible for inherited disorders, comprehensive genetic...
5.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, et al.
Am J Med Genet A
. 2024 May;
194(10):e63656.
PMID: 38760879
KIF1A-related disorders (KRDs) encompass recessive and dominant variants with wide clinical variability. Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few...
6.
Takayama J, Makino S, Funayama T, Ueki M, Narita A, Murakami K, et al.
Clin Genet
. 2024 May;
106(3):284-292.
PMID: 38719617
Genetic maps are fundamental resources for linkage and association studies. A fine-scale genetic map can be constructed by inferring historical recombination events from the genome-wide structure of linkage disequilibrium-a non-random...
7.
Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, et al.
Nat Genet
. 2024 May;
56(5):869-876.
PMID: 38714868
Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and...
8.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, et al.
J Hum Genet
. 2024 Mar;
69(5):185.
PMID: 38548934
No abstract available.
9.
Nakamura H, Kikuchi A, Sakai H, Kamimura M, Watanabe Y, Onuma R, et al.
Front Pediatr
. 2024 Mar;
12:1340263.
PMID: 38510083
Background: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA syndrome), and Kawasaki disease (KD) are both considered to be disorders of the innate immune system, and the potential role...
10.
Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, et al.
J Hum Genet
. 2024 Feb;
69(5):177-183.
PMID: 38351237
Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta....