Found: 63
Select item for more details and to access through your institution.
Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years.
- Published in:
- Cancers, 2024, v. 16, n. 7, p. 1420, doi. 10.3390/cancers16071420
- By:
- Publication type:
- Article
Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.
- Published in:
- Diseases, 2024, v. 12, n. 1, p. 9, doi. 10.3390/diseases12010009
- By:
- Publication type:
- Article
Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.
- Published in:
- Pediatric Reports, 2023, v. 15, n. 1, p. 129, doi. 10.3390/pediatric15010011
- By:
- Publication type:
- Article
Vitamin B6 Neonatal Toxicity.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.896749
- By:
- Publication type:
- Article
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1314, doi. 10.3390/genes13081314
- By:
- Publication type:
- Article
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00575-w
- By:
- Publication type:
- Article
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-019-0466-9
- By:
- Publication type:
- Article
<sup>18</sup>F-fluorodexyglucose Position Emission Tomography identifies altered brain metabolism in patients with Cri du Chat syndrome.
- Published in:
- Journal of Nuclear Medicine, 2019, v. 60, n. 12, p. 1, doi. 10.2967/jnumed.119.236893
- By:
- Publication type:
- Article
Skin picking disorder in 97 Italian and Spanish Cri du chat patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1525, doi. 10.1002/ajmg.a.61259
- By:
- Publication type:
- Article
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.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 3, p. 627, doi. 10.1111/bjh.15594
- By:
- Publication type:
- Article
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 6, p. 974, doi. 10.1111/bjh.15729
- By:
- Publication type:
- Article
Children and adults affected by Cri du Chat syndrome: Care's recommendations.
- Published in:
- Pediatric Reports, 2019, v. 11, n. 1, p. 1, doi. 10.4081/pr.2019.7839
- By:
- Publication type:
- Article
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.
- Published in:
- Pulmonary Circulation, 2018, v. 8, n. 4, p. 1, doi. 10.1177/2045894018782664
- By:
- Publication type:
- Article
Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 4, p. 527, doi. 10.1002/ajh.25025
- By:
- Publication type:
- Article
Rapunzel syndrome: how to orient the diagnosis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Neoplasia in Cri du Chat Syndrome from Italian and German Databases.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/5181624
- By:
- Publication type:
- Article
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 1, p. 51, doi. 10.1002/gcc.22401
- By:
- Publication type:
- Article
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1165, doi. 10.1002/ajmg.a.36990
- By:
- Publication type:
- Article
Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1168, doi. 10.1002/ajmg.a.36992
- By:
- Publication type:
- Article
Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.
- Published in:
- International Journal of Hematology, 2015, v. 101, n. 1, p. 23, doi. 10.1007/s12185-014-1698-4
- By:
- Publication type:
- Article
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 11, p. 2004, doi. 10.1038/mt.2014.138
- By:
- Publication type:
- Article
Absence of acquired copy number neutral loss of heterozygosity ( CN- LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 4, p. 573, doi. 10.1111/bjh.12767
- By:
- Publication type:
- Article
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
- Published in:
- 2014
- By:
- Publication type:
- Report
Narrow-band imaging in the endoscopic evaluation of hereditary hemorrhagic telangiectasia patients.
- Published in:
- Laryngoscope, 2013, v. 123, n. 12, p. 2967, doi. 10.1002/lary.24338
- By:
- Publication type:
- Article
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 119, doi. 10.1159/000347029
- By:
- Publication type:
- Article
Incidence of Shwachman-Diamond syndrome.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 7, p. 1334, doi. 10.1002/pbc.24260
- By:
- Publication type:
- Article
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 3, p. 580, doi. 10.1002/pbc.23401
- By:
- Publication type:
- Article
Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026431
- By:
- Publication type:
- Article
Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Familial occurrence of Turner syndrome: casual event or increased risk?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 3/4, p. 223, doi. 10.1515/JPEM.2011.091
- By:
- Publication type:
- Article
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8
- By:
- Publication type:
- Article
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 737, doi. 10.1007/s10545-010-9204-5
- By:
- Publication type:
- Article
Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases.
- Published in:
- Movement Disorders, 2010, v. 25, n. 15, p. 2670, doi. 10.1002/mds.23281
- By:
- Publication type:
- Article
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
- Published in:
- British Journal of Haematology, 2009, v. 147, n. 5, p. 706, doi. 10.1111/j.1365-2141.2009.07894.x
- By:
- Publication type:
- Article
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
- Published in:
- British Journal of Haematology, 2009, v. 145, n. 2, p. 190, doi. 10.1111/j.1365-2141.2009.07611.x
- By:
- Publication type:
- Article
Correlation of severity of epistaxis with nasal telangiectasias in hereditary hemorrhagic telangiectasia (HHT) patients.
- Published in:
- American Journal of Rhinology & Allergy, 2009, v. 23, n. 1, p. 52, doi. 10.2500/ajra.2009.23.3263
- By:
- Publication type:
- Article
Deletion of PAX9 and oligodontia: a third family and review of the literature.
- Published in:
- International Journal of Paediatric Dentistry, 2008, v. 18, n. 6, p. 441, doi. 10.1111/j.1365-263X.2008.00915.x
- By:
- Publication type:
- Article
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II.
- Published in:
- Advances in Therapy, 2008, v. 25, n. 8, p. 820, doi. 10.1007/s12325-008-0086-y
- By:
- Publication type:
- Article
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 742, doi. 10.1038/ejhg.2008.3
- By:
- Publication type:
- Article
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 820, doi. 10.1007/s10038-007-0187-5
- By:
- Publication type:
- Article
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476
- By:
- Publication type:
- Article
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640
- By:
- Publication type:
- Article
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 4, p. 375, doi. 10.1002/gcc.20301
- By:
- Publication type:
- Article
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis.
- Published in:
- British Journal of Haematology, 2006, v. 132, n. 6, p. 784, doi. 10.1111/j.1365-2141.2005.05922.x
- By:
- Publication type:
- Article
Smith-Magenis syndrome and growth hormone deficiency.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 40, n. 3, p. 165, doi. 10.1002/gcc.20030
- By:
- Publication type:
- Article
Clinical, genetic and immunologic analysis of a family affected by ozena.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2003, v. 260, n. 7, p. 390, doi. 10.1007/s00405-002-0571-x
- By:
- Publication type:
- Article
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
- Published in:
- 2003
- By:
- Publication type:
- journal article