(Q26999046)

Crossref

Gary M. Kupfer

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

December 2013

1 reference

Pediatric Clinics of North America

published in

1 reference

volume

60

1 reference

issue

6

1 reference

page(s)

1291-310

1 reference

Molecular pathogenesis and clinical management of Fanconi anemia

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

The genetics of dyskeratosis congenita

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Squamous cell carcinomas of the head and neck in Fanconi anemia: risk, prevention, therapy, and the need for guidelines

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

21 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Hereditary breast and ovarian cancer susceptibility genes (review).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Induced pluripotent stem cells with a mitochondrial DNA deletion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Molecular pathways: targeting PARP in cancer treatment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mitochondrial hepatopathies in the newborn period

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

PALB2/FANCN: recombining cancer and Fanconi anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

How I treat Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Ribosomopathies: human disorders of ribosome dysfunction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Ribosomal dysfunction and inherited marrow failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Hematological manifestations of primary mitochondrial disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Hematopoietic changes during progression from Fanconi anemia into acute myeloid leukemia: case report and brief review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Stem cell collection and gene transfer in Fanconi anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Ribosomes and marrow failure: coincidental association or molecular paradigm?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Advances in the understanding of the congenital dyserythropoietic anaemias.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Impaired type I IFN-induced Jak/STAT signaling in FA-C cells and abnormal CD4+ Th cell subsets in Fancc-/- mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anaemia and leukaemia - clinical and molecular aspects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

In vivo reversion to normal of inherited mutations in humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Gene therapy for fanconi anemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mutations in SBDS are associated with Shwachman-Diamond syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Shwachman-Diamond syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Mechanisms of carcinogenesis: focus on oxidative stress and electron transfer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital bone marrow failure syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Dyskeratosis congenita in all its forms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital bone marrow failure syndromes associated with protean developmental defects and leukemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

28 September 2017

Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Haematological abnormalities in Shwachman-Diamond syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Diamond-Blackfan anemia and malignancy. A case report and a review of the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Cartilage-hair hypoplasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Platelet number and function in Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anaemia--constitutional, familial aplastic anaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Erythroid colony growth in congenital hypoplastic anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Red cell aplasia in children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital hypoplastic anemia terminating in acute promyelocytic leukemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fetal erythropoiesis in stress hematopoiesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Current concepts and issues in Diamond-Blackfan anemia.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Oxidative damage in chemical teratogenesis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome).

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Cartilage-hair-hypoplasia and Hodgkin disease

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

The ribosomal protein S26 regulates p53 activity in response to DNA damage

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Combating cancer predisposition in association with idiopathic immune deficiency: a recurrent nodal and cutaneous T-cell lymphoproliferative disease in a patient with cartilage-hair hypoplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

28 November 2018

Dyskeratosis Congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi anemia proteins and endogenous stresses

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Liver tumours in patients with Fanconi anaemia: a report of three cases.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

CD-34 selected hematopoetic stem cell transplantation from HLA identical family members for fanconi anemia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Fanconi's anemia, transplantation, and cancer.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

The effect of GH replacement therapy on endothelial function and oxidative stress in adult growth hormone deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Diffusible melanin-related metabolites are potent inhibitors of lipid peroxidation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Bone marrow transplantation for Diamond-Blackfan anemia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3875142

Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes

28 November 2018

1 reference

12 December 2020

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia

1 reference

12 December 2020

Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis

1 reference

12 December 2020

Use of recombinant human granulocyte-macrophage colony stimulating factor in an infant with reticular dysgenesis

1 reference

12 December 2020

Chemotherapy for myeloid malignancy in children with Fanconi anemia

1 reference

12 December 2020

Oral squamous cell carcinoma in a case of dyskeratosis congenita

1 reference

12 December 2020

Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts

1 reference

12 December 2020

A new link between Fanconi anemia and human papillomavirus-associated malignancies

1 reference

12 December 2020

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

12 December 2020

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

1 reference

12 December 2020

1 reference

12 December 2020

Germline RAD51C mutations in ovarian cancer susceptibility

1 reference

12 December 2020

rhG-CSF for Shwachman's syndrome

1 reference

12 December 2020

Treatment of congenital hypoplastic anemia with prednisone

1 reference

12 December 2020

Diamond-Blackfan anemia

1 reference

12 December 2020

Congenital hypoplastic anaemia developed in acute megakarioblastic leukaemia. A case report

1 reference

12 December 2020

Malignant tumors in two patients with Diamond-Blackfan anemia treated with corticosteroids and androgens

1 reference

12 December 2020

DBA, del(5q): a reciprocal relationship

1 reference

12 December 2020

Differential regulation and expression of stress proteins and ferritin in human monocytes

1 reference

12 December 2020

Bone-marrow microenvironment defect in congenital hypoplastic anemia

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

Congenital dyserythropoietic anemia type III. studies on erythroid differentiation of blood erythroid progenitor cells (BFUE) in vitro

1 reference

12 December 2020

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

12 December 2020

Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2

1 reference

12 December 2020

Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis

1 reference

12 December 2020

Proceedings: Acute lymphoblastic leukemia following treatment of Blackfan-Diamond's disease

1 reference

12 December 2020

Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report

1 reference

12 December 2020

Positive response to granulocyte-colony-stimulating factor in dyskeratosis congenita before matched unrelated bone marrow transplantation

1 reference

12 December 2020

Successful bone-marrow transplantation for reticular dysgenesis

1 reference

12 December 2020

[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease]

1 reference

12 December 2020

Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia

1 reference

12 December 2020

Pure red-cell aplasia. Occurrence in three generations

1 reference

12 December 2020

Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred

1 reference

12 December 2020

1 reference

12 December 2020

Diamond-Blackfan anaemia: three patterns of in vitro response to haemopoietic growth factors

1 reference

12 December 2020

Anaemia and macrocytosis—unrecognized features in cartilage‐hair hypoplasia

1 reference

12 December 2020

Congenital hypoplastic anemia: Diamond-Blackfan syndrome. Historical and clinical aspects

1 reference

12 December 2020

Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3

1 reference

12 December 2020

Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia

1 reference

12 December 2020

Use of recombinant human granulocyte colony stimulating factor in reticular dysgenesis

1 reference

12 December 2020

Cellular and humoral immmunity in cartilage-hair hypoplasia

1 reference

12 December 2020

Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III

1 reference

12 December 2020

Bone marrow transplant in Shwachman Diamond syndrome

1 reference

12 December 2020

Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation

1 reference

12 December 2020

Congenital hypoplastic anemia: another example of autosomal dominant transmission

1 reference

12 December 2020

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

1 reference

12 December 2020

Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy

1 reference

12 December 2020

Production, utilization and excretion of erythropoietin. I. Chronic anemias. II. Aplastic crisis. 3. Erythropoietic effects of normal plasma

1 reference

12 December 2020

Refractory anaemia and mitochondrial cytopathy in childhood

1 reference

12 December 2020