182 related articles for article (PubMed ID: 27914778)
1. Familial haemophagocytosis lymphohisticytosis type 3: A case report.
Kamoun F; Hsairi M; Grandin V; Ben Ameur S; De Saint Basile G; Hachicha M
Arch Pediatr; 2017 Jan; 24(1):33-35. PubMed ID: 27914778
[TBL] [Abstract][Full Text] [Related]
2. Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.
Sadeghi P; Esslami GG; Rokni-Zadeh H; Changi-Ashtiani M; Mohsenipour R
BMC Pediatr; 2022 Nov; 22(1):667. PubMed ID: 36401200
[TBL] [Abstract][Full Text] [Related]
3. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY; Song JS; Lee KO; Won HH; Kim JW; Kim SH; Lee SH; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Han DK; Kook H; Hwang TJ; Lyu CJ; Lee MJ; Kim JY; Park SS; Lim YT; Kim BE; Koh KN; Im HJ; Seo JJ; Kim HJ;
Ann Hematol; 2013 Mar; 92(3):357-64. PubMed ID: 23180437
[TBL] [Abstract][Full Text] [Related]
4. Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis.
Bechara E; Dijoud F; de Saint Basile G; Bertrand Y; Pondarré C
Pediatrics; 2011 Jul; 128(1):e251-4. PubMed ID: 21646258
[TBL] [Abstract][Full Text] [Related]
5. Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.
Amirifar P; Ranjouri MR; Abolhassani H; Moeini Shad T; Almasi-Hashiani A; Azizi G; Moamer S; Aghamohammadi A; Yazdani R
Pediatr Allergy Immunol; 2021 Jan; 32(1):186-197. PubMed ID: 32679608
[TBL] [Abstract][Full Text] [Related]
6. Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.
Hiejima E; Shibata H; Yasumi T; Shimodera S; Hori M; Izawa K; Kawai T; Matsuoka M; Kojima Y; Ohara A; Nishikomori R; Ohara O; Heike T
Clin Immunol; 2018 Jun; 191():63-66. PubMed ID: 29596912
[TBL] [Abstract][Full Text] [Related]
7. Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.
Yang Y; Luo Z; Yuan T
Medicine (Baltimore); 2021 Nov; 100(47):e27786. PubMed ID: 34964741
[TBL] [Abstract][Full Text] [Related]
8. Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports.
Nakao T; Shimizu T; Fukushima T; Saito M; Okamoto M; Sugiura M; Yamamoto K; Ueda I; Imashuku S; Kobayashi C; Koike K; Tsuchida M; Sumazaki R; Matsui A
Pediatr Hematol Oncol; 2008; 25(3):171-80. PubMed ID: 18432499
[TBL] [Abstract][Full Text] [Related]
9. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI
J Med Genet; 2008 Mar; 45(3):134-41. PubMed ID: 17993578
[TBL] [Abstract][Full Text] [Related]
10. Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.
Manno EC; Salfa I; Palma P; Bertaina A; Lombardi A; Moretta F; Coniglio ML; Sieni E; Aricò M; Finocchi A
J Pediatr Hematol Oncol; 2014 Mar; 36(2):e128-30. PubMed ID: 23669735
[TBL] [Abstract][Full Text] [Related]
11. Fatal unexpected death due to familial hemophagocytic lymphohistiocytosis type 3.
Mu J; Jin C; Chen Z; Li J; Lv B; Dong H
Forensic Sci Med Pathol; 2018 Sep; 14(3):372-376. PubMed ID: 29754257
[TBL] [Abstract][Full Text] [Related]
12. Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.
Jain R; Puliyel M; Moses PD; Sieni E
Indian Pediatr; 2012 Jun; 49(6):488-90. PubMed ID: 22796692
[TBL] [Abstract][Full Text] [Related]
13. Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Akyol S; Ozcan A; Sekine T; Chiang SCC; Yilmaz E; Karakurkcu M; Patiroglu T; Bryceson Y; Unal E
J Pediatr Hematol Oncol; 2020 Oct; 42(7):e627-e629. PubMed ID: 31651726
[TBL] [Abstract][Full Text] [Related]
14. Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.
Vahidi M; Badalzadeh M; Jannesar M; Mazinani M; Fazlollahi MR; Khodayari Namini N; Houshmand M; Hamidieh AA; Moradi L; Pourpak Z; Moin M
Iran J Allergy Asthma Immunol; 2019 Oct; 18(5):487-492. PubMed ID: 32245292
[TBL] [Abstract][Full Text] [Related]
15. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M; Chiang SC; Wood SM; Entesarian M; Schlums H; Bang B; Nordenskjöld E; Björklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist BM; Rajic L; Pfeifer S; Rosthøj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI; Bryceson YT
Blood; 2011 Nov; 118(22):5783-93. PubMed ID: 21931115
[TBL] [Abstract][Full Text] [Related]
16. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.
Nagaraj CB; Brightman DS; Rea H; Wakefield E; Harkavy NVG; Dyer L; Zhang W
BMC Pediatr; 2024 Jan; 24(1):34. PubMed ID: 38212754
[TBL] [Abstract][Full Text] [Related]
17. Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H; Yasumi T; Shimodera S; Hiejima E; Izawa K; Kawai T; Shirakawa R; Wada T; Nishikomori R; Horiuchi H; Ohara O; Ishii E; Heike T
Blood; 2018 May; 131(18):2016-2025. PubMed ID: 29549174
[TBL] [Abstract][Full Text] [Related]
18. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Horne A; Ramme KG; Rudd E; Zheng C; Wali Y; al-Lamki Z; Gürgey A; Yalman N; Nordenskjöld M; Henter JI
Br J Haematol; 2008 Oct; 143(1):75-83. PubMed ID: 18710388
[TBL] [Abstract][Full Text] [Related]
19. Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
Alsina L; Colobran R; de Sevilla MF; Català A; Viñas L; Ricart S; Plaza AM; Lois S; Juan M; Pujol-Borrell R; Martinez-Gallo M
Clin Immunol; 2014 Aug; 153(2):292-7. PubMed ID: 24825797
[TBL] [Abstract][Full Text] [Related]
20. Retroviral
Dettmer V; Bloom K; Gross M; Weissert K; Aichele P; Ehl S; Cathomen T
Hum Gene Ther; 2019 Aug; 30(8):975-984. PubMed ID: 31032638
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
