99 related articles for article (PubMed ID: 30575022)
1. Genetics for understanding the clinical features of Shwachman-Diamond Syndrome.
Nacci L
Br J Haematol; 2019 Mar; 184(5):710-711. PubMed ID: 30575022
[No Abstract] [Full Text] [Related]
2. Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
Valli R; Minelli A; Galbiati M; D'Amico G; Frattini A; Montalbano G; Khan AW; Porta G; Millefanti G; Olivieri C; Cipolli M; Cesaro S; Pasquali F; Danesino C; Cazzaniga G; Maserati E
Br J Haematol; 2019 Mar; 184(6):974-981. PubMed ID: 30585299
[TBL] [Abstract][Full Text] [Related]
3. Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome.
Saettini F; Cattoni A; D'Angio' M; Corti P; Maitz S; Pagni F; Seminati D; Pezzoli L; Iascone M; Biondi A; Bonanomi S
Br J Haematol; 2020 May; 189(4):e171-e174. PubMed ID: 32196641
[No Abstract] [Full Text] [Related]
4. Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.
McCarthy P; Cotter M; Smith OP
Br J Haematol; 2022 Feb; 196(3):e39-e42. PubMed ID: 34549814
[No Abstract] [Full Text] [Related]
5. A novel Drosophila model for neurodevelopmental disorders associated with Shwachman-Diamond syndrome.
Takai A; Chiyonobu T; Ueoka I; Tanaka R; Tozawa T; Yoshida H; Morimoto M; Hosoi H; Yamaguchi M
Neurosci Lett; 2020 Nov; 739():135449. PubMed ID: 33115644
[TBL] [Abstract][Full Text] [Related]
6. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Morini J; Nacci L; Babini G; Cesaro S; Valli R; Ottolenghi A; Nicolis E; Pintani E; Maserati E; Cipolli M; Danesino C; Scotti C; Minelli A
Br J Haematol; 2019 May; 185(3):627-630. PubMed ID: 30198570
[No Abstract] [Full Text] [Related]
7. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S; Kermasson L; Hoslin A; Jaako P; Faille A; Acevedo-Arozena A; Lengline E; Ranta D; Poirée M; Fenneteau O; Ducou le Pointe H; Fumagalli S; Beaupain B; Nitschké P; Bôle-Feysot C; de Villartay JP; Bellanné-Chantelot C; Donadieu J; Kannengiesser C; Warren AJ; Revy P
Blood; 2019 Jul; 134(3):277-290. PubMed ID: 31151987
[TBL] [Abstract][Full Text] [Related]
8. Shwachman-Diamond syndrome: A case report.
Tang Q; Ye XM; Yang YC; Wen XL
Asian J Surg; 2023 Feb; 46(2):928. PubMed ID: 35963699
[No Abstract] [Full Text] [Related]
9. Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype.
Zhang T; Yu Z; Gao S; Wang L; Song H
J Clin Immunol; 2023 Apr; 43(3):550-553. PubMed ID: 36596881
[No Abstract] [Full Text] [Related]
10. [Shwachman-Diamond syndrome combined with acute leukemia of ambiguous lineage: a case report].
Zheng D; Zhu MX; Ma L; Li QH; Dong F; Wang J; Jing HM
Zhonghua Nei Ke Za Zhi; 2023 Feb; 62(2):196-199. PubMed ID: 36740411
[TBL] [Abstract][Full Text] [Related]
11. Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.
Lee H; Lee JA; Lee H; Lee JS; Ko JM; Kim MJ; Seong MW
Ann Lab Med; 2023 Nov; 43(6):638-641. PubMed ID: 37387500
[No Abstract] [Full Text] [Related]
12. [Shwachman-diamond syndrome as cause of infantile eczema associated with failure to thrive].
Lange L; Simon T; Ibach B; Rietschel E
Klin Padiatr; 2009; 221(2):89-92. PubMed ID: 19130395
[TBL] [Abstract][Full Text] [Related]
13. Haematological abnormalities in Shwachman-Diamond syndrome.
Smith OP; Hann IM; Chessells JM; Reeves BR; Milla P
Br J Haematol; 1996 Aug; 94(2):279-84. PubMed ID: 8759887
[TBL] [Abstract][Full Text] [Related]
14. Shwachman‒Diamond syndrome with initial features mimicking common variable immunodeficiency.
Hou JW
Pediatr Neonatol; 2021 Nov; 62(6):668-669. PubMed ID: 34304998
[No Abstract] [Full Text] [Related]
15. [Shwachman-Diamond syndrome: clinical manifestations and molecular genetics].
Erdos M; Maródi L
Orv Hetil; 2007 Mar; 148(11):513-9. PubMed ID: 17350924
[TBL] [Abstract][Full Text] [Related]
16. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.
Kerr EN; Ellis L; Dupuis A; Rommens JM; Durie PR
J Pediatr; 2010 Mar; 156(3):433-8. PubMed ID: 19906387
[TBL] [Abstract][Full Text] [Related]
17. Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.
Dror Y
Expert Rev Mol Med; 2008 Dec; 10():e38. PubMed ID: 19102804
[TBL] [Abstract][Full Text] [Related]
18. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M
Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR; Moghaddam B; Yoon JM
J Pediatr Hematol Oncol; 2009 Nov; 31(11):847-9. PubMed ID: 19816210
[TBL] [Abstract][Full Text] [Related]
20. Shwachman-Diamond syndrome.
Dror Y
Pediatr Blood Cancer; 2005 Dec; 45(7):892-901. PubMed ID: 16047374
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
