Shwachman-Diamond syndrome, Pediatric Blood & Cancer, vol.I, issue.7, pp.892-901, 2005. ,
DOI : 10.1002/pbc.20478
Mutations in SBDS are associated with Shwachman???Diamond syndrome, Nature Genetics, vol.16, issue.1, pp.97-101, 2003. ,
DOI : 10.1093/NAR/25.24.4876
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome, Genes & Development, vol.25, issue.9, pp.917-946, 2011. ,
DOI : 10.1101/gad.623011
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group, Haematologica, vol.90, issue.1, pp.45-53, 2005. ,
Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry, Bone Marrow Transplantation, vol.13, issue.9, pp.787-92, 2005. ,
DOI : 10.1038/sj.bmt.1705141
Shwachman-Diamond syndrome, The Journal of Pediatrics, vol.141, issue.2, pp.164-169, 2002. ,
DOI : 10.1067/mpd.2002.126918
Haematological abnormalities in Shwachman-Diamond syndrome, British Journal of Haematology, vol.94, issue.2, pp.279-283, 1996. ,
DOI : 10.1046/j.1365-2141.1996.d01-1788.x
Congenital neutropenia: diagnosis, molecular bases and patient management, Orphanet Journal of Rare Diseases, vol.6, issue.1, p.26, 2011. ,
DOI : 10.1038/sj.ejhg.5200366
The French national registry of primary immunodeficiency diseases, Clin.Immunol, vol.135, issue.2, pp.264-266, 2010. ,
Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry, Pediatric Blood & Cancer, vol.82, issue.6, pp.1068-73, 2009. ,
DOI : 10.1002/pbc.22147
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register, Blood, vol.103, issue.11, pp.4119-4144, 2004. ,
DOI : 10.1182/blood-2003-10-3518
Serum IgG subclass concentrations in healthy subjects at different age: Age normal percentile charts, European Journal of Pediatrics, vol.49, issue.3, pp.164-171, 1989. ,
DOI : 10.1007/BF01958271
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, pp.124-130 ,
Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes, Annals of Hematology, vol.110, issue.6, pp.691-700, 2008. ,
DOI : 10.1007/s00277-008-0499-3
Myelodysplastic Syndrome in Children and Adolescents, Seminars in Hematology, vol.45, issue.1, pp.60-70, 2008. ,
DOI : 10.1053/j.seminhematol.2007.10.006
Modelling survival data in medical research, 1994. ,
DOI : 10.1007/978-1-4899-3115-3
Shwachman???Diamond syndrome presenting in a premature infant as pancytopenia, Pediatric Blood & Cancer, vol.119, issue.1, pp.123-127, 2008. ,
DOI : 10.1002/pbc.21550
Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.29, issue.1, pp.75-84, 2002. ,
DOI : 10.1038/sj.bmt.1703321
Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome, PEDIATRICS, vol.114, issue.3, pp.387-91, 2004. ,
DOI : 10.1542/peds.2003-0651-F
Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome, Bone Marrow Transplantation, vol.105, issue.10, pp.855-61, 2005. ,
DOI : 10.1038/sj.bmt.1705142
Aplastic anemia associated with the Shwachman syndrome In vivo and in vitro observations, Am.J Pediatr.Hematol.Oncol, vol.3, issue.4, pp.347-51, 1981. ,
SUCCESSFUL CYCLOSPORIN A TREATMENT OF APLASTIC ANAEMIA IN SHWACHMAN-DIAMOND SYNDROME, British Journal of Haematology, vol.312, issue.4, pp.540-541, 1990. ,
DOI : 10.1016/S0140-6736(76)92780-X
Fatal Cyclophosphamide-Induced Congestive Heart Failure in a 10-Year-Old Boy with Shwachman-Diamond Syndrome and Severe Bone Marrow Failure Treated with Allogeneic Bone Marrow Transplantation, Journal of Pediatric Hematology/Oncology, vol.12, issue.4, pp.472-478, 1990. ,
DOI : 10.1097/00043426-199024000-00012
CRITERIA FOR SEVERE APLASTIC ANAEMIA, The Lancet, vol.331, issue.8580, pp.303-307, 1988. ,
DOI : 10.1016/S0140-6736(88)90388-1
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?, British Journal of Haematology, vol.99, issue.4 ,
DOI : 10.1046/j.1365-2141.2000.01868.x
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome, Experimental Hematology, vol.30, issue.7 ,
DOI : 10.1016/S0301-472X(02)00815-9
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies, Genes, Chromosomes and Cancer, vol.104, issue.4, pp.375-82, 2006. ,
DOI : 10.1002/gcc.20301
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome, Leukemia, vol.23, issue.4, pp.708-719, 2009. ,
DOI : 10.1038/sj.leu.2401147
Monitoring the Isochromosome i(7)(q10) in the Bone Marrow of Patients With Shwachman Syndrome by Real-time Quantitative PCR, Journal of Pediatric Hematology/Oncology, vol.29, issue.3, pp.163-168, 2007. ,
DOI : 10.1097/MPH.0b013e31803b958e
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome, British Journal of Haematology, vol.19, issue.5, pp.632-635, 2010. ,
DOI : 10.1111/j.1365-2141.2010.08243.x
INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME, Pediatric Hematology and Oncology, vol.19, issue.7, pp.525-533, 2002. ,
DOI : 10.1080/08880010290097350
Discordant Detection of Monosomy 7 by GTG-banding and FISH in a Patient with Shwachman-Diamond Syndrome without Evidence of Myelodysplastic Syndrome or Acute Myelogenous Leukemia, Cancer Genetics and Cytogenetics, vol.115, issue.2, pp.106-119, 1999. ,
DOI : 10.1016/S0165-4608(99)00098-9
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?, Cancer Genetics and Cytogenetics, vol.154, issue.2, pp.144-153, 2004. ,
DOI : 10.1016/j.cancergencyto.2004.02.001
Malignant myeloid transformation with isochromosome 7q in Shwachman???Diamond syndrome, Leukemia, vol.12, issue.10, pp.1591-1596, 1998. ,
DOI : 10.1038/sj.leu.2401147
Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders, Cancer Genetics and Cytogenetics, vol.121, issue.2, pp.167-71, 2000. ,
DOI : 10.1016/S0165-4608(00)00246-6
Chromosome 20q Deletion and Progression to Monosomy 7 in a Patient With Shwachman-Diamond Syndrome Without MDS/AML, Journal of Pediatric Hematology/Oncology, vol.25, issue.6, pp.508-517, 2003. ,
DOI : 10.1097/00043426-200306000-00018
Diagnosis of Myelodysplastic Syndrome Among a Cohort of 119 Patients With Fanconi Anemia, American Journal of Clinical Pathology, vol.133, issue.1 ,
DOI : 10.1309/AJCP7W9VMJENZOVG
Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations, The Tohoku Journal of Experimental Medicine, vol.206, issue.3, pp.253-262, 2005. ,
DOI : 10.1620/tjem.206.253
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS, Clinical Genetics, vol.29, issue.2, pp.101-113, 2004. ,
DOI : 10.1111/j.0009-9163.2004.00198.x
Clinical and Genetic Analyses of Presumed Shwachman-Diamond Syndrome in Japan, International Journal of Hematology, vol.84, issue.1, pp.60-62, 2006. ,
DOI : 10.1532/IJH97.06043
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies, British Journal of Haematology, vol.19, issue.2, pp.190-197, 2009. ,
DOI : 10.1111/j.1365-2141.2009.07611.x
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome, Annals of the New York Academy of Sciences, vol.28, issue.1, pp.40-55, 2011. ,
DOI : 10.1111/j.1749-6632.2011.06349.x
Allogeneic bone marrow transplantation in a patieni with Shwachman-Diamond syndrome, Annals of Hematology, vol.12, issue.2, pp.83-87, 1996. ,
DOI : 10.1007/BF00641313
RELATED DONOR LIVER TRANSPLANT FOR VENO-OCCLUSIVE DISEASE FOLLOWING T-DEPLETED UNRELATED DONOR BONE MARROW TRANSPLANTATION, Transplantation, vol.61, issue.4, pp.664-670, 1996. ,
DOI : 10.1097/00007890-199602270-00028
Successful unrelated bone marrow transplantation for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.27, issue.1, pp.97-106, 2001. ,
DOI : 10.1038/sj.bmt.1702732
Unrelated donor bone marrow transplantation for children and adolescents with aplastic anaemia or myelodysplasia, British Journal of Haematology, vol.96, issue.4 ,
DOI : 10.1046/j.1365-2141.1997.d01-2087.x
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome, British Journal of Haematology, vol.99, issue.1, pp.171-174, 1997. ,
DOI : 10.1046/j.1365-2141.1997.3673181.x
Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis, European Journal of Pediatrics, vol.158, issue.12, pp.995-1000, 1999. ,
DOI : 10.1007/s004310051265
Bone marrow transplantation in Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.30, issue.4, pp.255-263, 2002. ,
DOI : 10.1038/sj.bmt.1703631
Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia, International Journal of Hematology, vol.12, issue.2, pp.189-191, 2004. ,
DOI : 10.1532/IJH97.03103
Bone marrow transplantation in Shwachman???Diamond syndrome: report of two cases and review of the literature, Bone Marrow Transplantation, vol.21, issue.8, pp.849-51, 1998. ,
DOI : 10.1038/sj.bmt.1701170
Allogeneic Bone Marrow Transplantation in Shwachman - Diamond Syndrome with Malignant Myeloid Transformation, The Korean Journal of Internal Medicine, vol.17, issue.3, pp.204-210, 2002. ,
DOI : 10.3904/kjim.2002.17.3.204
Liver failure complicating non-alcoholic steatohepatitis following allogeneic bone marrow transplantation for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.29, issue.11, pp.931-934, 2002. ,
DOI : 10.1038/sj.bmt.1703549