Page last updated: 2024-10-20

thymine and Genetic Diseases, X-Chromosome Linked

thymine has been researched along with Genetic Diseases, X-Chromosome Linked in 5 studies

Research Excerpts

ExcerptRelevanceReference
"The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome."2.44[Myotubular myopathy. Case report and review of the literature]. ( Bereg, E; Bódi, I; Endreffy, E; Hortobágyi, T; Katona, M; Korcsik, J; Kovács, SK; Szabó, H; Sztriha, L; Túri, S, 2007)
"In place of the typical craniosynostosis found in CFND, she presented with a superiorly displaced nasion and an anomalously positioned frontonasal suture."1.39Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment. ( Buchanan, EP; Correa, B; Hollier, LH; Weathers, WM; Wolfswinkel, EM, 2013)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (60.00)29.6817
2010's2 (40.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wolfswinkel, EM1
Weathers, WM1
Correa, B1
Buchanan, EP1
Hollier, LH1
Lee, KE1
Ko, J1
Shin, TJ1
Hyun, HK1
Lee, SH1
Kim, JW2
Simmer, JP1
Hu, YY1
Lin, BP1
Boyd, C1
Wright, JT1
Yamada, CJ1
Rayes, SK1
Feigal, RJ1
Hu, JC1
Kovács, SK1
Korcsik, J1
Szabó, H1
Bódi, I1
Katona, M1
Bereg, E1
Endreffy, E1
Túri, S1
Hortobágyi, T1
Sztriha, L1
He, X1
Gu, F1
Wang, Y1
Yan, J1
Zhang, M1
Huang, S1
Ma, X1

Reviews

1 review available for thymine and Genetic Diseases, X-Chromosome Linked

ArticleYear
[Myotubular myopathy. Case report and review of the literature].
    Orvosi hetilap, 2007, Sep-16, Volume: 148, Issue:37

    Topics: Biopsy; DNA Mutational Analysis; Frameshift Mutation; Genetic Diseases, X-Linked; Humans; Infant; In

2007

Other Studies

4 other studies available for thymine and Genetic Diseases, X-Chromosome Linked

ArticleYear
Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment.
    The Journal of craniofacial surgery, 2013, Volume: 24, Issue:4

    Topics: Child; Codon; Cranial Sutures; Craniofacial Abnormalities; Craniosynostoses; Cytosine; Ephrin-B1; Fe

2013
Oligodontia and curly hair occur with ectodysplasin-a mutations.
    Journal of dental research, 2014, Volume: 93, Issue:4

    Topics: Anodontia; Arginine; Child; Child, Preschool; Codon; Conserved Sequence; Ectodysplasins; Exome; Gene

2014
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
    Journal of dental research, 2004, Volume: 83, Issue:5

    Topics: Amelogenesis Imperfecta; Amelogenin; Child; Codon; Cytosine; Dental Enamel; Dental Enamel Hypoplasia

2004
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
    Molecular vision, 2008, Jan-11, Volume: 14

    Topics: Adult; Alleles; Amino Acid Substitution; Asian People; Base Sequence; Child; Chromosomes, Human, X;

2008