1: Morini J, Nacci L, Babini G, Cesaro S, Valli R ...

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1: 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. 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. Br J Haematol. 2018 Sep 10. doi: 10.1111/bjh.15594. [Epub ahead of print] PubMed PMID: 30198570. 2: Murakami J. Can treatment of malabsorption in Shwachman-Diamond syndrome improve prognosis? Pediatr Int. 2018 Aug;60(8):683. doi: 10.1111/ped.13657. PubMed PMID: 30160037. 3: Barış Z, Özçay F, Olcay L, Ceylaner S, Sezer T. A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. J Pediatr Genet. 2018 Sep;7(3):117-121. doi: 10.1055/s-0038-1636997. Epub 2018 Mar 7. PubMed PMID: 30105119; PubMed Central PMCID: PMC6087479. 4: Kaabar M, Lemaire P, Cussac V, Besancon A, Martin-Coignard D, Fenneteau O, Laribi K, Pineau-Vincent F. Shwachman-Diamond syndrome: a case report. Ann Biol Clin (Paris). 2018 Aug 1;76(4):435-438. doi: 10.1684/abc.2018.1358. PubMed PMID: 30078780. 5: Nelson AS, Myers KC. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome. Hematol Oncol Clin North Am. 2018 Aug;32(4):687-700. doi: 10.1016/j.hoc.2018.04.006. Epub 2018 Jun 5. Review. PubMed PMID: 30047420. 6: Iwafuchi H. The histopathology of bone marrow failure in children. J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. Review. PubMed PMID: 29998978. 7: Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Members U, Shashi V, Pena LDM. Further Evidence for the Involvement of EFL1 in a Shwachman--Diamond-like Syndrome and Expansion of the Phenotypic Features. Cold Spring Harb Mol Case Stud. 2018 Jul 3. pii: mcs.a003046. doi: 10.1101/mcs.a003046. [Epub ahead of print] PubMed PMID: 29970384. 8: Farooqui SM, Aziz M. Shwachman-Diamond Syndrome. 2018 May 29. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK507866/ PubMed PMID: 29939643.

Transcript of 1: Morini J, Nacci L, Babini G, Cesaro S, Valli R ...

Page 1: 1: Morini J, Nacci L, Babini G, Cesaro S, Valli R ...

1: 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. 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. Br J Haematol. 2018 Sep 10. doi: 10.1111/bjh.15594.

[Epub ahead of print] PubMed PMID: 30198570.

2: Murakami J. Can treatment of malabsorption in Shwachman-Diamond syndrome

improve prognosis? Pediatr Int. 2018 Aug;60(8):683. doi: 10.1111/ped.13657.

PubMed PMID: 30160037.

3: Barış Z, Özçay F, Olcay L, Ceylaner S, Sezer T. A Case of Shwachman-Diamond

Syndrome who Presented with Hypotonia. J Pediatr Genet. 2018 Sep;7(3):117-121.

doi: 10.1055/s-0038-1636997. Epub 2018 Mar 7. PubMed PMID: 30105119; PubMed

Central PMCID: PMC6087479.

4: Kaabar M, Lemaire P, Cussac V, Besancon A, Martin-Coignard D, Fenneteau O,

Laribi K, Pineau-Vincent F. Shwachman-Diamond syndrome: a case report. Ann Biol

Clin (Paris). 2018 Aug 1;76(4):435-438. doi: 10.1684/abc.2018.1358. PubMed PMID:

30078780.

5: Nelson AS, Myers KC. Diagnosis, Treatment, and Molecular Pathology of

Shwachman-Diamond Syndrome. Hematol Oncol Clin North Am. 2018 Aug;32(4):687-700.

doi: 10.1016/j.hoc.2018.04.006. Epub 2018 Jun 5. Review. PubMed PMID: 30047420.

6: Iwafuchi H. The histopathology of bone marrow failure in children. J Clin Exp

Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. Review. PubMed PMID:

29998978.

7: Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA,

Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse

AA, Walley N, Members U, Shashi V, Pena LDM. Further Evidence for the Involvement

of EFL1 in a Shwachman--Diamond-like Syndrome and Expansion of the Phenotypic

Features. Cold Spring Harb Mol Case Stud. 2018 Jul 3. pii: mcs.a003046. doi:

10.1101/mcs.a003046. [Epub ahead of print] PubMed PMID: 29970384.

8: Farooqui SM, Aziz M. Shwachman-Diamond Syndrome. 2018 May 29. StatPearls

[Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-. Available

from http://www.ncbi.nlm.nih.gov/books/NBK507866/

PubMed PMID: 29939643.

Page 2: 1: Morini J, Nacci L, Babini G, Cesaro S, Valli R ...

9: Ong SY, Li ST, Wong GC, Ho AYL, Nagarajan C, Ngeow J. Delayed diagnosis of

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