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1 ructural and regulatory proteins--also cause Seckel syndrome.
2 lead to the neurodevelopmental disorder, ATR-Seckel syndrome.
3 n mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder.
4                     Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microc
5 elangiectasia mutated and Rad3 related (ATR)-Seckel syndrome and autosomal recessive primary microcep
6 rk to rationalize the involvement of DNA2 in Seckel syndrome and cancer.
7 ders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial
8 NT) gene were identified in individuals with Seckel syndrome and microcephalic osteodysplastic primor
9 in the human NINEIN gene have been linked to Seckel syndrome and to a rare form of skeletal dysplasia
10 3 related (ATR)-Chk1 pathway is defective in Seckel syndrome, another microcephaly disorder.
11  phosphorylation was investigated by using a Seckel syndrome (ATR mutant) cell line.
12 A damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by se
13 taxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwa
14                     Paradoxically, the human Seckel syndrome caused by ATR mutations exhibits prematu
15                                      All the Seckel syndrome cell lines examined showed increased end
16 tes is a common but not invariant feature of Seckel syndrome cell lines.
17                            However, like ATR-Seckel syndrome cells, MCPH1-mutant cell lines show defe
18                         In contrast with ATR-Seckel syndrome cells, MCPH1-mutant cells have low level
19 ve been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical
20 more, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) h
21                                              Seckel syndrome is clinically and genetically heterogene
22 r defects in ATR significantly contribute to Seckel syndrome is unclear.
23 ct identified in the developmental disorder, Seckel syndrome, is a mutation in ataxia telangiectasia
24 xtreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordia
25                                              Seckel syndrome (MIM 210600) is an autosomal recessive d
26                                              Seckel syndrome (MIM 210600), a disorder of markedly red
27 ad3-related protein) syndrome, a subclass of Seckel syndrome mutated in ATR.
28 nts with defective ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1-d
29                                              Seckel syndrome (OMIM 210600) is an autosomal recessive
30 trate that Cep63-deficient mice recapitulate Seckel syndrome pathology.
31 ntial of cells following the expression of a Seckel syndrome patient-derived DNA2 hypomorph or partia
32  signaling pathway that is also disrupted in Seckel syndrome patients.
33 cell lines derived from additional unrelated Seckel syndrome patients.
34                             We conclude that Seckel syndrome represents a further damage response dis
35                                              Seckel syndrome (SCKL) is a rare, genetically heterogene
36 centrosomal protein whose gene is mutated in Seckel syndrome (SCKL, MIM 210600), an inherited recessi
37                                  Clinically, Seckel syndrome shares features in common with disorders
38 ich is mutated in the microcephalic disorder Seckel syndrome, sustains cerebellar growth by maintaini
39 We previously mapped a locus associated with Seckel syndrome to chromosome 3q22.1-q24 in two consangu
40        Deficiency of ATR function, either in Seckel syndrome, which clinically resembles Fanconi anem