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Barriers and facilitators of germline genetic evaluation for prostate cancer
The Prostate, 2021Genetic counseling and germline testing have an increasingly important role for patients with prostate cancer (PCa); however, recent data suggests they are underutilized.
S. Loeb +7 more
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Genetic Evaluation of Pancreatitis
Gastrointestinal Endoscopy Clinics of North America, 2022Hereditary pancreatitis (HP) is a rare inherited chronic pancreatitis (CP) with strong genetic associations, with estimated prevalence ranging from 0.3 to 0.57 per 100,000 across Europe, North America, and East Asia. Apart from the most well-described genetic variants are PRSS1, SPINK1, and CFTR, many other genes, such as CTRC, CPA1, and CLDN2 and CEL ...
Yichun Fu, Aimee L. Lucas
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Evaluating Neanderthal Genetics and Phylogeny [PDF]
Journal of Molecular Evolution, 2006 The retrieval of Neanderthal (Homo neanderthalsensis) mitochondrial DNA is thought to be among the most significant ancient DNA contributions to date, allowing conflicting hypotheses on modern human (Homo sapiens) evolution to be tested directly. Recently, however, both the authenticity of the Neanderthal sequences and their phylogenetic position ...
Martin B. Hebsgaard +5 more
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Genetic Evaluation of Polyposis [PDF]
Current Colorectal Cancer Reports, 2010 There is substantial ongoing work in elucidating the genetics of colorectal cancer (CRC). In this article, the state of the art and clinical application of CRC genetics for syndromic, familial, and sporadic carcinoma are discussed in detail. Clinical manifestations, genetics, diagnosis, and surveillance are discussed for major colorectal cancer ...
Angus D. Thomson +3 more
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Postgraduate Medicine, 1977
A step-by-step approach to the diagnosis of genetic disorders and birth defects is presented, including specific outlines for evaluation of patients with malformations or shortness of stature and of incest cases.
Jürgen Herrmann, John M. Opitz
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A step-by-step approach to the diagnosis of genetic disorders and birth defects is presented, including specific outlines for evaluation of patients with malformations or shortness of stature and of incest cases.
Jürgen Herrmann, John M. Opitz
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Seminars in Pediatric Neurology, 2008
The autism spectrum disorders represent a collective of neurogenetic conditions that have in common altered socialization and communication. Much attention has been given lately to the marked increased in the reported incidence of these conditions. Significant debate also exists as to the basis of the reported increase. Regardless, clinical geneticists
Nancy J. Mendelsohn, G. Bradley Schaefer
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The autism spectrum disorders represent a collective of neurogenetic conditions that have in common altered socialization and communication. Much attention has been given lately to the marked increased in the reported incidence of these conditions. Significant debate also exists as to the basis of the reported increase. Regardless, clinical geneticists
Nancy J. Mendelsohn, G. Bradley Schaefer
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Genetic evaluation of short stature
Best Practice & Research Clinical Endocrinology & Metabolism, 2011After a proper medical history, growth analysis and physical examination of a short child, followed by radiological and laboratory screening, the clinician may decide to perform genetic testing. We propose several clinical algorithms that can be used to establish the diagnosis.
Wit, J.M., Kiess, W., Mullis, P.
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Genetic evaluation and counseling for epilepsy
Nature Reviews Neurology, 2010The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater ...
Pal, Deb K. +2 more
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Connectedness in Genetic Evaluation
1990The problem of connectedness in genetic evaluation is part of the more general one of “adjusting” for nuisance parameters (e.g., herd x year x season) and of estimating genetic population means (group effects). After a review of approaches to the study of connectedness, its impact is discussed in relation to the type of model used (purely fixed or ...
Foulley, Jean Louis, J. L. +3 more
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The genetic evaluation of plant genetic resources
Genome, 1989The characterization of the nature and extent of the genetic diversity preserved in plant genetic resources collections has received much less attention than other aspects of the discipline such as collecting and storage techniques. The workshop was designed to focus on three aspects of genetic evaluation: what is the utility and significance of ...
Bryan L. Harvey, Brad Fraleigh
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