172 related articles for article (PubMed ID: 27553422)
1. Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Nacci L; Valli R; Maria Pinto R; Zecca M; Cipolli M; Morini J; Cesaro S; Boveri E; Rosti V; Corti P; Ambroni M; Pasquali F; Danesino C; Maserati E; Minelli A
Genes Chromosomes Cancer; 2017 Jan; 56(1):51-58. PubMed ID: 27553422
[TBL] [Abstract][Full Text] [Related]
2. Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
Valli R; De Paoli E; Nacci L; Frattini A; Pasquali F; Maserati E
Pediatr Blood Cancer; 2017 Aug; 64(8):. PubMed ID: 28130858
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning.
Pressato B; Valli R; Marletta C; Mare L; Montalbano G; Curto FL; Pasquali F; Maserati E
J Pediatr Hematol Oncol; 2015 May; 37(4):307-10. PubMed ID: 25887640
[TBL] [Abstract][Full Text] [Related]
5. Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.
Pressato B; Valli R; Marletta C; Mare L; Montalbano G; Lo Curto F; Pasquali F; Maserati E
Br J Haematol; 2012 May; 157(4):503-5. PubMed ID: 22295858
[No Abstract] [Full Text] [Related]
6. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
[TBL] [Abstract][Full Text] [Related]
7. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
[TBL] [Abstract][Full Text] [Related]
8. Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions.
Aziz A; Baxter EJ; Edwards C; Cheong CY; Ito M; Bench A; Kelley R; Silber Y; Beer PA; Chng K; Renfree MB; McEwen K; Gray D; Nangalia J; Mufti GJ; Hellstrom-Lindberg E; Kiladjian JJ; McMullin MF; Campbell PJ; Ferguson-Smith AC; Green AR
J Clin Invest; 2013 May; 123(5):2169-82. PubMed ID: 23543057
[TBL] [Abstract][Full Text] [Related]
9. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
[TBL] [Abstract][Full Text] [Related]
10. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A; Nacci L; Valli R; Pietrocola G; Ramenghi U; Locatelli F; Brescia L; Nicolis E; Cipolli M; Danesino C
Blood Cells Mol Dis; 2016 Sep; 60():33-5. PubMed ID: 27519942
[No Abstract] [Full Text] [Related]
11. Breast cancer in a case of Shwachman Diamond syndrome.
Singh SA; Vlachos A; Morgenstern NJ; Ouansafi I; Ip W; Rommens JM; Durie P; Shimamura A; Lipton JM
Pediatr Blood Cancer; 2012 Nov; 59(5):945-6. PubMed ID: 22213587
[TBL] [Abstract][Full Text] [Related]
12. [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Shen J; Lin K; An Y; Wu YM; Qiao ZW; Yu H; Zhu QR; Zhang T
Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):679-83. PubMed ID: 24330988
[TBL] [Abstract][Full Text] [Related]
13. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Nacci L; Danesino C; Sainati L; Longoni D; Poli F; Cipolli M; Perobelli S; Nicolis E; Cannioto Z; Morini J; Valli R; Pasquali F; Minelli A
Br J Haematol; 2014 May; 165(4):573-5. PubMed ID: 24484588
[No Abstract] [Full Text] [Related]
14. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Tourlakis ME; Zhong J; Gandhi R; Zhang S; Chen L; Durie PR; Rommens JM
Gastroenterology; 2012 Aug; 143(2):481-92. PubMed ID: 22510201
[TBL] [Abstract][Full Text] [Related]
15. Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.
Smith A; Shaw PJ; Webster B; Lammi A; Gaskin K; Diaz S; Sharma P
Pediatr Hematol Oncol; 2002; 19(7):525-8. PubMed ID: 12217199
[TBL] [Abstract][Full Text] [Related]
16. Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.
Parikh S; Perdigones N; Paessler M; Greenbaum B; Tooke LS; Biegel JA; Mason PJ; Bessler M
Br J Haematol; 2012 Nov; 159(4):480-2. PubMed ID: 22934832
[No Abstract] [Full Text] [Related]
17. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V; Cipolli M
Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
[TBL] [Abstract][Full Text] [Related]
18. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Carvalho CM; Zuccherato LW; Williams CL; Neill NJ; Murdock DR; Bainbridge M; Jhangiani SN; Muzny DM; Gibbs RA; Ip W; Guillerman RP; Lupski JR; Bertuch AA
BMC Med Genet; 2014 Jun; 15():64. PubMed ID: 24898207
[TBL] [Abstract][Full Text] [Related]
19. Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E; Santos R
Blood Cells Mol Dis; 2008; 40(2):183-4. PubMed ID: 17916435
[TBL] [Abstract][Full Text] [Related]
20. Mutations in
Stepensky P; Chacón-Flores M; Kim KH; Abuzaitoun O; Bautista-Santos A; Simanovsky N; Siliqi D; Altamura D; Méndez-Godoy A; Gijsbers A; Naser Eddin A; Dor T; Charrow J; Sánchez-Puig N; Elpeleg O
J Med Genet; 2017 Aug; 54(8):558-566. PubMed ID: 28331068
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
