Visiting Professor of Pediatrics, Johns Hopkins University School of Medicine
Pediatric Hematology & Oncology
Dr. Blanche P. Alter, MD
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Blanche P. Alter, MD practices Pediatric Hematology & Oncology. He went to medical school at Johns Hopkins University School of Medicine. Johns Hopkins University School of Medicine is a top medical university. Johns Hopkins University School of Medicine is ranked 3 in research and 29 in primary care medicine He received awards:"Elected Member". Blanche Alter is a published doctor and has 100 publications published. The lastest was: 'Dyskeratosis congenita: nails and hands.'
Publications
- Novel FANCI mutations in Fanconi anemia with VACTERL association.
- Endocrine disorders in fanconi anemia: recommendations for screening and treatment.
- Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.
- Telomere length in inherited bone marrow failure syndromes.
- Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.
- Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
- Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
- Response to androgen therapy in patients with dyskeratosis congenita.
- Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multi-case Diamond-Blackfan anemia families.
- Anti-Müllerian Hormone Deficiency in Females with Fanconi Anemia.
- Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.
- GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics and immunity.
- A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome.
- Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
- Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.
- Sources of Uncertainty and Their Association with Medical Decision Making: Exploring Mechanisms in Fanconi Anemia.
- Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
- Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus.
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
- Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.
- The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
- The relationship between DNA methylation and telomere length in dyskeratosis congenita.
- Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapy.
- Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
- A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
- Neutrophil functions in patients with inherited bone marrow failure syndromes.
- How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.
- Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.
- Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
- Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.
- Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.
- Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.
- Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.
- Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.
- Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
- Pathophysiology and management of inherited bone marrow failure syndromes.
- Wilms tumor, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.
- Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
- Occupational exposure to formaldehyde, hematotoxicity, and leukemia-specific chromosome changes in cultured myeloid progenitor cells.
- Dyskeratosis congenita: the first NIH clinical research workshop.
- Cancer in dyskeratosis congenita.
- Dyskeratosis congenita.
- Bone marrow cell cycle markers in inherited bone marrow failure syndromes.
- All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative.
- Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
- Oral and dental phenotype of dyskeratosis congenita.
- Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry.
- TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
- Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
- The role of telomere biology in bone marrow failure and other disorders.
- Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
- Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
- Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor.
- Endocrine abnormalities in patients with Fanconi anemia.
- Granulocyte colony-stimulating factor and severe aplastic anemia.
- Current diagnosis of inherited bone marrow failure syndromes.
- Experiences of siblings of patients with Fanconi anemia.
- Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
- Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
- Lineage-specific hematopoietic growth factors.
- Fanconi anemia.
- The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report.
- The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy.
- Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation.
- The association between FANCD1/BRCA2 mutations and leukaemia.
- Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita.
- Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations.
- Fanconi''s anemia, transplantation, and cancer.
- Bone marrow failure: a child is not just a small adult (but an adult can have a childhood disease).
- Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.
- Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies.
- Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.
- Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants.
- Hematotoxicity in workers exposed to low levels of benzene.
- Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions.
- Growth hormone and the risk of malignancy.
- Individualized risks of first adverse events in patients with Fanconi anemia.
- Use of single nucleotide polymorphism arrays to identify a novel region of loss on chromosome 6q in squamous cell carcinomas of the oral cavity.
- The CCC system: is it really the answer to pediatric MDS?
- Cancer in Fanconi anemia.
- Cancer incidence in persons with Fanconi anemia.
- Cancer in Fanconi anemia, 1927-2001.
- Malignant myeloid transformation in congenital forms of neutropenia.
- Bone marrow failure syndromes in children.
- Shwachman-Diamond syndrome: report from an international conference.
- p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia.
- Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias.
- Radiosensitivity in Fanconi''s anemia patients.
- Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.
- Modern review of congenital hypoplastic anemia.
- Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster.
- Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.
- Molecular medicine and bone marrow failure syndromes.
- Fanconi anemia: myelodysplasia as a predictor of outcome.
- Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome.
- Embryonic hemoglobins are expressed in definitive cells.
- Bone marrow failure syndromes.
- Dyskeratosis congenita: nails and hands.
Schools
Johns Hopkins University School of Medicine
Johns Hopkins Hospital
Chldns Hospital Med Center
Doctors Specialties
- Pediatric Hematology
- Oncology
Accepted Insurances
Awards
- Elected Member
Education
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Boston Children's Hospital -
Johns Hopkins University -
Johns Hopkins University School of Medicine
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