243 related articles for article (PubMed ID: 29633571)
1. ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I; Cohen E; Cada M; Vincent A; Cohn RD; Dror Y
Mol Genet Genomic Med; 2018 May; 6(3):463-468. PubMed ID: 29633571
[TBL] [Abstract][Full Text] [Related]
2. Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
Järviaho T; Halt K; Hirvikoski P; Moilanen J; Möttönen M; Niinimäki R
Clin Genet; 2018 Feb; 93(2):392-395. PubMed ID: 28815563
[TBL] [Abstract][Full Text] [Related]
3. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
Tummala H; Kirwan M; Walne AJ; Hossain U; Jackson N; Pondarre C; Plagnol V; Vulliamy T; Dokal I
Am J Hum Genet; 2014 Feb; 94(2):246-56. PubMed ID: 24507776
[TBL] [Abstract][Full Text] [Related]
4. Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G; Lopes F; Gauthier J; Saillour V; Nassif C; Wynn R; Alos N; Leblanc T; Capri Y; Nizard S; Lemyre E; Michaud JL; Pelletier VA; Pastore YD; Soucy JF
Clin Genet; 2018 Aug; 94(2):252-258. PubMed ID: 29700810
[TBL] [Abstract][Full Text] [Related]
5. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.
Germeshausen M; Ancliff P; Estrada J; Metzler M; Ponstingl E; Rütschle H; Schwabe D; Scott RH; Unal S; Wawer A; Zeller B; Ballmaier M
Blood Adv; 2018 Mar; 2(6):586-596. PubMed ID: 29540340
[TBL] [Abstract][Full Text] [Related]
6. Hematopoietic development: a gap in our understanding of inherited bone marrow failure.
Kurre P
Exp Hematol; 2018 Mar; 59():1-8. PubMed ID: 29248612
[TBL] [Abstract][Full Text] [Related]
7. Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.
Dehmel M; Brenner S; Suttorp M; Hahn G; Schützle H; Dinger J; Di Donato N; Mackenroth L; von der Hagen M
Neuropediatrics; 2016 Jun; 47(3):182-6. PubMed ID: 26951492
[TBL] [Abstract][Full Text] [Related]
8. First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Bandini P; Borràs N; Fernandez Mellid E; Martin-Fernandez L; Melero Valentín P; Comes N; Ramírez L; Cadahia Fernández P; Rodríguez Ruiz M; Perez Encinas MM; Vidal F; Corrales I
Br J Haematol; 2023 Nov; 203(4):e102-e107. PubMed ID: 37696499
[No Abstract] [Full Text] [Related]
9. Heterozygous
Marsh JCW; Gutierrez-Rodrigues F; Cooper J; Jiang J; Gandhi S; Kajigaya S; Feng X; Ibanez MDPF; Donaires FS; Lopes da Silva JP; Li Z; Das S; Ibanez M; Smith AE; Lea N; Best S; Ireland R; Kulasekararaj AG; McLornan DP; Pagliuca A; Callebaut I; Young NS; Calado RT; Townsley DM; Mufti GJ
Blood Adv; 2018 Jan; 2(1):36-48. PubMed ID: 29344583
[TBL] [Abstract][Full Text] [Related]
10. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
Zhang S; Pondarre C; Pennarun G; Labussiere-Wallet H; Vera G; France B; Chansel M; Rouvet I; Revy P; Lopez B; Soulier J; Bertrand P; Callebaut I; de Villartay JP
J Exp Med; 2016 May; 213(6):1011-28. PubMed ID: 27185855
[TBL] [Abstract][Full Text] [Related]
11. [Recent advances in inherited bone marrow failure syndrome research].
Ito E; Toki T; Terui K
Rinsho Ketsueki; 2016 Jul; 57(7):882-90. PubMed ID: 27498735
[TBL] [Abstract][Full Text] [Related]
12. Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2.
Kjeldsen E; Veigaard C; Aggerholm A; Hasle H
Gene; 2018 May; 656():86-94. PubMed ID: 29496554
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
14. [Gene mutations in bone marrow failure syndromes].
Yoshizato T; Makishima H
Rinsho Ketsueki; 2016; 57(12):2519-2525. PubMed ID: 28090021
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
[TBL] [Abstract][Full Text] [Related]
16. [Inherited bone marrow failure syndromes].
Okuno Y
Rinsho Ketsueki; 2016 Feb; 57(2):98-103. PubMed ID: 26935625
[TBL] [Abstract][Full Text] [Related]
17. Bone mineral density in patients with inherited bone marrow failure syndromes.
Shankar RK; Giri N; Lodish MB; Sinaii N; Reynolds JC; Savage SA; Stratakis CA; Alter BP
Pediatr Res; 2017 Sep; 82(3):458-464. PubMed ID: 28486441
[TBL] [Abstract][Full Text] [Related]
18. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H; Okuno Y; Yoshida K; Shiraishi Y; Doisaki S; Narita A; Sakaguchi H; Kawashima N; Wang X; Xu Y; Chiba K; Tanaka H; Hama A; Sanada M; Takahashi Y; Kanno H; Yamaguchi H; Ohga S; Manabe A; Harigae H; Kunishima S; Ishii E; Kobayashi M; Koike K; Watanabe K; Ito E; Takata M; Yabe M; Ogawa S; Miyano S; Kojima S
Genet Med; 2017 Jul; 19(7):796-802. PubMed ID: 28102861
[TBL] [Abstract][Full Text] [Related]
19. Introduction to Acquired and Inherited Bone Marrow Failure.
Sieff CA
Hematol Oncol Clin North Am; 2018 Aug; 32(4):569-580. PubMed ID: 30047411
[TBL] [Abstract][Full Text] [Related]
20. [Bone marrow failure and TP53 activating mutations].
Ito E
Rinsho Ketsueki; 2022; 63(9):1115-1125. PubMed ID: 36198537
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
