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A basic classification and a comprehensive examination of pediatric myeloproliferative syndromes

artículo científico publicado en 2005

A noninvasive oral rinse assay to monitor engraftment, neutrophil tissue delivery and susceptibility to infection following HSCT in pediatric patients

A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system

scientific article published on 01 June 2002

A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system.

artículo científico publicado en 2002

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

artículo científico publicado en 2002

Advances in understanding the genetic basis for bone-marrow failure

artículo científico publicado en 2006

Allogeneic bone marrow transplantation vs chemotherapy for children with Philadelphia chromosome-positive acute lymphoblastic leukemia

artículo científico publicado en 2004

Allogeneic hematopoietic stem cell transplantation of patients with FA and high risk features using fludarabine without radiation

artículo científico publicado en 2009

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome

artículo científico publicado en 2008

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry

scientific article published on 03 March 2020

Aplastic anemia following varicella vaccine.

artículo científico publicado en 2009

Ataxia and pancytopenia caused by a mutation in TINF2

artículo científico publicado en 2008

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

artículo científico publicado en 2017

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing

artículo científico publicado en 2009

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

artículo científico publicado en 2015

Case 1: A newborn with pancytopenia.

artículo científico

Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure

artículo científico publicado en 2020

Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes

artículo científico publicado en 2008

Clinical applications of granulocyte-colony stimulating factor

artículo científico publicado en 2007

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study

artículo científico publicado en 2002

Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals

artículo científico publicado en 2000

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

artículo científico publicado en 2013

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

artículo científico publicado en 2011

Complete response to tacrolimus in a child with severe aplastic anemia resistant to cyclosporin A.

artículo científico publicado en 2009

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

artículo científico publicado en 2012

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)

artículo científico publicado en 2013

Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium

scientific article published on 11 August 2020

Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report

artículo científico publicado en 2006

Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

artículo científico publicado en 2015

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

artículo científico

Duplication of distal thumb phalanx in Shwachman-Diamond syndrome

scientific article published on 01 June 1998

ERCC6L2-associated inherited bone marrow failure syndrome.

artículo científico publicado en 2018

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

artículo científico publicado en 2008

Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia

artículo científico publicado en 2008

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

artículo científico publicado en 2011

Genetic polymorphisms of the beta-2 adrenergic receptor in Israelis with severe asthma compared to non-asthmatic Israelis.

artículo científico publicado en 2003

Gray platelet syndrome: macrothrombocytopenia with deficient α-granules

artículo científico publicado en 2012

Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome

artículo científico publicado en 2009

Immune function in patients with Shwachman-Diamond syndrome

artículo científico publicado en 2001

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

artículo científico publicado en 2015

Leukaemia-related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman-Diamond syndrome

artículo científico publicado en 2007

Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita

artículo científico publicado el 1 de mayo de 2003

Lymphoproliferative disorders after organ transplantation in children

artículo científico publicado en 1999

Malignant hematological disorders in children with Wolf–Hirschhorn syndrome

artículo científico publicado el 1 de junio de 2003

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

artículo científico publicado en 1998

Mastocytosis cells bearing a c-kit activating point mutation are characterized by hypersensitivity to stem cell factor and increased apoptosis

scientific article published on 01 March 2000

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

artículo científico publicado en 2017

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome

artículo científico publicado en 2013

Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.

artículo científico publicado en 2005

Mutations in the SBDS gene in acquired aplastic anemia

artículo científico publicado en 2007

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

artículo científico publicado en 2007

Oral health comparison between children with neutropenia and healthy controls

artículo científico publicado en 2012

Oral health-related quality of life of children with neutropenia.

artículo científico publicado en 2007

Outcome of children with aplastic anemia treated with immunosuppressive therapy

artículo científico publicado en 2008

P53 protein overexpression in Shwachman-Diamond syndrome

scientific article published on 01 October 2002

PKD1L1-related situs inversus associated with sideroblastic anemia

artículo científico publicado en 2019

Primed PMNs in healthy mouse and human circulation are first responders during acute inflammation

artículo científico publicado en 2019

Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation

artículo científico publicado en 2010

Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology

artículo científico publicado en 2004

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

scientific article published on 09 December 2019

Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7.

artículo científico publicado en 2005

Reduction of Extramedullary Complications in Patients With Acute Myeloid Leukemia/Myelodysplastic Syndrome Treated With Azacitidine

artículo científico publicado en 2020

Remission of aplastic anemia induced by treatment for Graves disease in a pediatric patient

artículo científico publicado en 2007

Reply to Hasle et al

artículo científico publicado el 1 de diciembre de 2003

Response to comments from Drs. Alter and Rosenberg

artículo científico publicado en 2015

Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation

artículo científico publicado en 2016

SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth

artículo científico publicado el 1 de diciembre de 2010

SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane

scientific article published on 01 January 2009

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.

artículo científico publicado en 2008

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

artículo científico publicado en 1999

Shwachman-Diamond syndrome

scientific article published on 01 December 2005

Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

artículo científico publicado en 2001

Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report

artículo científico publicado en 2003

Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment

scientific article published on 01 November 1999

Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis

artículo científico publicado en 2006

Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia

scientific article published on 23 December 2008

Shwachman-diamond syndrome.

artículo científico publicado en 2002

Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

artículo científico publicado en 2010

Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia

artículo científico publicado en 2003

The cellular and molecular mechanisms for neutropenia in Barth syndrome

artículo científico publicado el 4 de diciembre de 2011

The clinical impact of copy number variants in inherited bone marrow failure syndromes

artículo científico publicado en 2017

The evolution of juvenile myelomonocytic leukemia in a female patient with paternally inherited neurofibromatosis type 1

artículo científico publicado en 2003

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

artículo científico publicado en 2015

The ribosome-related protein, SBDS, is critical for normal erythropoiesis

artículo científico publicado en 2011

The role of mitochondrial-mediated apoptosis in a myelodysplastic syndrome secondary to congenital deletion of the short arm of chromosome 4

artículo científico publicado en 2003

Thrombocytopenia with absent radii: frequency of marrow megakaryocyte progenitors, proliferative characteristics, and megakaryocyte growth and development factor responsiveness

artículo científico publicado en 2000

Timing of neutrophil tissue repopulation predicts restoration of innate immune protection in a murine bone marrow transplantation model

artículo científico publicado en 2006

Transient erythroblastopenia of childhood is an underdiagnosed and self-limiting disease

artículo científico publicado en 2014

Transient myelodysplastic syndrome associated with isochromosome 7q abnormality

artículo científico publicado en 2003

Translocation (X;10) in a child with therapy-related acute myeloid leukemia following chemotherapy for Ewing's Sarcoma

artículo científico publicado en 2007

Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.

artículo científico publicado en 2015

Underlying undiagnosed inherited marrow failure syndromes among children with cancer.

artículo científico publicado en 2016

Understanding the evolving phenotype of vascular complications in telomere biology disorders

artículo científico publicado en 2018

Update on childhood neutropenia: molecular and clinical advances

artículo científico publicado en 2004