156 related articles for article (PubMed ID: 30818900)
1. [LIG4 syndrome: a report of four cases and literature review].
Yue T; Li JG; Zhou ZX; Hou J; Xu YJ; Liu R; Shi XD
Zhonghua Er Ke Za Zhi; 2019 Mar; 57(3):217-221. PubMed ID: 30818900
[No Abstract] [Full Text] [Related]
2. LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Sun B; Chen Q; Wang Y; Liu D; Hou J; Wang W; Ying W; Hui X; Zhou Q; Sun J; Wang X
Orphanet J Rare Dis; 2020 May; 15(1):131. PubMed ID: 32471509
[TBL] [Abstract][Full Text] [Related]
3. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A; Butt F; Tomei S; Deola S; Lo B; Robay A; Al-Shakaki A; Al-Hajri N; Crystal R; Kambouris M; Wang E; Marincola FM; Fakhro KA; Cugno C
BMC Med Genet; 2016 Nov; 17(1):84. PubMed ID: 27855655
[TBL] [Abstract][Full Text] [Related]
4. Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Madhu R; Beaman GM; Chandler KE; O'Sullivan J; Urquhart JE; Khan N; Martindale E; Briggs TA; Clayton-Smith J; Higgs J; Batra G; Kerr B; Woolf AS; Newman WG
Eur J Med Genet; 2020 Sep; 63(9):103974. PubMed ID: 32534991
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Tamura S; Higuchi K; Tamaki M; Inoue C; Awazawa R; Mitsuki N; Nakazawa Y; Mishima H; Takahashi K; Kondo O; Imai K; Morio T; Ohara O; Ogi T; Furukawa F; Inoue M; Yoshiura K; Kanazawa N
Clin Immunol; 2015 Oct; 160(2):255-60. PubMed ID: 26172957
[TBL] [Abstract][Full Text] [Related]
6. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
Gruhn B; Seidel J; Zintl F; Varon R; Tönnies H; Neitzel H; Bechtold A; Hoehn H; Schindler D
Orphanet J Rare Dis; 2007 Jan; 2():5. PubMed ID: 17224058
[TBL] [Abstract][Full Text] [Related]
7. Molecular and immunological characterization of DNA ligase IV deficiency.
Jiang J; Tang W; An Y; Tang M; Wu J; Qin T; Zhao X
Clin Immunol; 2016 Feb; 163():75-83. PubMed ID: 26762768
[TBL] [Abstract][Full Text] [Related]
8. Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.
He J; Tian X; Luo T; Zou R; Yin Z; Chen K; Zhu C; He X
Transpl Immunol; 2023 Oct; 80():101897. PubMed ID: 37437665
[TBL] [Abstract][Full Text] [Related]
9. DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.
Huang M; Dong G; Lu X; Xiao F; Zhou Q; Zhang S
BMC Pediatr; 2022 Oct; 22(1):588. PubMed ID: 36221079
[TBL] [Abstract][Full Text] [Related]
10. Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
Felgentreff K; Baxi SN; Lee YN; Dobbs K; Henderson LA; Csomos K; Tsitsikov EN; Armanios M; Walter JE; Notarangelo LD
J Clin Immunol; 2016 May; 36(4):341-53. PubMed ID: 27063650
[TBL] [Abstract][Full Text] [Related]
11. A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.
Taskiran EZ; Sonmez HE; Kosukcu C; Tavukcuoglu E; Yazici G; Esendagli G; Batu ED; Kiper POS; Bilginer Y; Alikasifoglu M; Ozen S
J Clin Immunol; 2019 Jan; 39(1):99-105. PubMed ID: 30617623
[TBL] [Abstract][Full Text] [Related]
12. [Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].
Hu SC; Wang YB; Sun Q; Liu XR; Sun LL; Cui GM
Zhonghua Er Ke Za Zhi; 2019 Jan; 57(1):55-59. PubMed ID: 30630233
[No Abstract] [Full Text] [Related]
13. [Clinical and immunological analysis of patients with activated phosphoinositide 3-kinase δ syndrome resulting from PIK3CD mutation].
Tang WJ; Wang W; Luo Y; Wang YP; Li L; An YF; Gou LJ; Ma MS; He TY; Yang J; Zhao XD; Song HM
Zhonghua Er Ke Za Zhi; 2017 Jan; 55(1):19-24. PubMed ID: 28072954
[No Abstract] [Full Text] [Related]
14. Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.
Lun MP; Shannon ML; Keles S; Reisli I; Luche N; Ryan D; Capuder K; Notarangelo LD; Lehtinen MK
Am J Pathol; 2019 Dec; 189(12):2440-2449. PubMed ID: 31541646
[TBL] [Abstract][Full Text] [Related]
15. [Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
Yu G; Wang WJ; Liu DR; Tao ZF; Hui XY; Hou J; Sun JQ; Wang XC
Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):186-191. PubMed ID: 29518828
[No Abstract] [Full Text] [Related]
16. [Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].
Ding Y; Zhang Y; Wang YP; Zhao HY; Chen XM; Xue XH; Bai XM; An YF; Zhang ZY; Tang XM; Zhao XD
Zhonghua Er Ke Za Zhi; 2017 Jan; 55(1):30-36. PubMed ID: 28072956
[No Abstract] [Full Text] [Related]
17. Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE; Bicknell LS; Yigit G; Duker AL; van Kogelenberg M; Haghayegh S; Wieczorek D; Kayserili H; Albert MH; Wise CA; Brandon J; Kleefstra T; Warris A; van der Flier M; Bamforth JS; Doonanco K; Adès L; Ma A; Field M; Johnson D; Shackley F; Firth H; Woods CG; Nürnberg P; Gatti RA; Hurles M; Bober MB; Wollnik B; Jackson AP
Hum Mutat; 2014 Jan; 35(1):76-85. PubMed ID: 24123394
[TBL] [Abstract][Full Text] [Related]
18. Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ; Bignucolo O; Seki S; Ghraichy M; Delmonte OM; von Niederhäusern V; Higgins R; Ghosh A; Nishizawa M; Tanaka M; Baldrich A; Köppen J; Hirsiger JR; Hupfer R; Ehl S; Rensing-Ehl A; Hopfer H; Prince SS; Daley SR; Marquardsen FA; Meyer BJ; Tamm M; Daikeler TD; Diesch T; Kühne T; Helbling A; Berkemeier C; Heijnen I; Navarini AA; Trück J; de Villartay JP; Oxenius A; Berger CT; Hess C; Notarangelo LD; Yamamoto H; Recher M
J Allergy Clin Immunol; 2023 Aug; 152(2):500-516. PubMed ID: 37004747
[TBL] [Abstract][Full Text] [Related]
19. Low blood CD8+ T-lymphocytes and high circulating monocytes are predictors of HIV-1-associated progressive encephalopathy in children.
Sánchez-Ramón S; Bellón JM; Resino S; Cantó-Nogués C; Gurbindo D; Ramos JT; Muñoz-Fernández MA
Pediatrics; 2003 Feb; 111(2):E168-75. PubMed ID: 12563091
[TBL] [Abstract][Full Text] [Related]
20. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Ben-Omran TI; Cerosaletti K; Concannon P; Weitzman S; Nezarati MM
Am J Med Genet A; 2005 Sep; 137A(3):283-7. PubMed ID: 16088910
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
