Exclusive paternal origin of new mutations in Apert syndrome.
about
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effectMutation enhancement by DINB1, a mammalian homologue of the Escherichia coli mutagenesis protein dinBMECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originThe origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesPaternal age and risk of schizophrenia in adult offspringThe high spontaneous mutation rate: is it a health risk?The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutationsFibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implicationsSelfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly menPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromePaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseGenomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosisApert syndrome: temporal lobe abnormalities on fetal brain imaging.Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancerActivating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumorsCleft lip and palate genetics and application in early embryological development.A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.Role of FGFR2-signaling in the pathogenesis of acne.Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogoniaMolecular approaches to the Rett syndrome gene.The impact of molecular genetics on oral health paradigms.Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.Parental origin of mutations in sporadic cases of Treacher Collins syndrome.Paternal factors and schizophrenia risk: de novo mutations and imprintingThe observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndromeProteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainDe novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counselingBirth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome.p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.In vivo and in vitro aging is detrimental to mouse spermatogonial stem cell function.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.An aetiological classification of birth defects for epidemiological researchIsotretinoin treatment of acne in a patient with Apert syndrome.Parent-of-origin effects in SOX2 anophthalmia syndromeApert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
P2860
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P2860
Exclusive paternal origin of new mutations in Apert syndrome.
description
1996 nî lūn-bûn
@nan
1996 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Exclusive paternal origin of new mutations in Apert syndrome.
@ast
Exclusive paternal origin of new mutations in Apert syndrome.
@en
Exclusive paternal origin of new mutations in Apert syndrome.
@nl
type
label
Exclusive paternal origin of new mutations in Apert syndrome.
@ast
Exclusive paternal origin of new mutations in Apert syndrome.
@en
Exclusive paternal origin of new mutations in Apert syndrome.
@nl
prefLabel
Exclusive paternal origin of new mutations in Apert syndrome.
@ast
Exclusive paternal origin of new mutations in Apert syndrome.
@en
Exclusive paternal origin of new mutations in Apert syndrome.
@nl
P2093
P356
P1433
P1476
Exclusive paternal origin of new mutations in Apert syndrome.
@en
P2093
P2888
P356
10.1038/NG0596-48
P407
P577
1996-05-01T00:00:00Z