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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Primary Immune Deficiency Diseases
Last data update: May 09, 2024
. (Total: 63814 Documents since 2012)
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Records 1 - 14 (of 14 Records)
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Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021
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Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021
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[Challenges of screening germline predispositions in children].
Manabe Atsushi et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2020 61(6) 682-686
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Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2020 Jun
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Chromosome instability syndromes.
Taylor A Malcolm R et al. Nature reviews. Disease primers 2019 Sep 5(1) 64
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Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution's High Risk Population.
Meiss Alice E et al. Human pathology 2018 Jun
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Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.
Campbell Mary Beth et al. Cold Spring Harbor molecular case studies 2018 Apr 4(2)
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31
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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
Meyer Robert et al. The Journal of pediatrics 2017 May
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Direct-to-consumer genetic testing: Perspectives on its value in healthcare.
Delaney S K et al. Clinical pharmacology and therapeutics 2016 Feb 99(2) 146-8
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ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
ACOG Committee on Genetics. Obstet Gynecol 2009 Oct (4) 950-3
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FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome
FDA Press Release, February 19, 2015
23andMe: a new two-sided data-banking market model.
Stoeklé Henri-Corto et al. BMC medical ethics 2016 17(1) 19
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23andMe gets FDA approval for Bloom Syndrome genetic test,
by Katelyn Busse, National Monitor, Feb 23
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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