Last Posted: Aug 19, 2021
- 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
- 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
- [Challenges of screening germline predispositions in children].
Manabe Atsushi et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2020 61(6) 682-686
- Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2020 Jun
- Chromosome instability syndromes.
Taylor A Malcolm R et al. Nature reviews. Disease primers 2019 Sep 5(1) 64
- 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
- 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
- Bloom Syndrome MedGen Information
from the National Library of Medicine
- Bloom Syndrome: Gene Reviews
MM Sanz et al. 2013
- Carrier screening in individuals of Ashkenazi Jewish descent.
Gross Susan J et al. Genet. Med. 2008 Jan (1) 54-6
- check out genetic conditions and tests associated with Bloom Syndrome
From the NIH Genetic Testing Registry
- F.D.A. Reverses Course on 23andMe DNA Test in Move to Ease Restrictions
Andrew Pollack, New York Times, February 19, 2015
- FDA approves marketing of 23andMe?s carrier test for Bloom syndrome?and Bloom syndrome only.
Cecile Janssens, A. Cecile J.W. Janssens Blog, February 20, 2015
- FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome
FDA Press Release, February 19, 2015
- Bloom syndrome
From NCATS Genetic and Rare Diseases Information Center
Neurological Disorders (ND) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to neurological disorders....more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.