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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)
Heart, Lung, Blood and Sleep Disorders
Last data update: Jun 21, 2024
. (Total: 64207 Documents since 2012)
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Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased.
Sattler Elke C et al. European journal of cancer (Oxford, England : 1990) 2021 151168-174
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A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub Sherene et al. Journal of vascular surgery 2020 71(1) 149-157
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CLINGEN Actionability Report for Marfan Syndrome - FBN1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial papillary renal cell carcinoma 1 - MET
ClinGen Actionability Working Group
CLINGEN Actionability Report for Tuberous Sclerosis Complex (TSC)-TSC1, TSC2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Birt-Hogg-Dub� syndrome - FLCN
ClinGen Actionability Working Group
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
Torricelli Elena et al. Respiration; international review of thoracic diseases 2019 Jul 1-8
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Role of Radiologists in the Diagnosis of Unsuspected Birt-Hogg-Dubé Syndrome in a Tertiary Clinical Practice.
Lee Elizabeth et al. AJR. American journal of roentgenology 2019 May 1-6
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A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
Zhang Xinxin et al. Respiratory research 2016 May 17(1) 64
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Molecular adequacy of image-guided rebiopsies for molecular retesting in advanced non-small cell lung cancer: a single centre experience.
Tokaca Nadza et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Oct
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Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate.
Ree Anne Hansen et al. ESMO open 2017 2(2) e000158
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Implementation of a Multicenter Biobanking Collaboration for Next-Generation Sequencing-Based Biomarker Discovery Based on Fresh Frozen Pretreatment Tumor Tissue Biopsies.
Bins Sander et al. The oncologist 2016 Sep
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The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee Wen-I et al. Annals of medicine 2016 Feb 1-8
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Page last reviewed:
Feb 1, 2024
Page last updated:
Jun 21, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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