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A Rare <i>PTF1A</i> Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation. [PDF]
Int J Endocrinol MetabPaksaz M +5 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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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.
J, Herrmann, J 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.
J, Herrmann, J 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
openaire +2 more sources
Evaluating Neanderthal Genetics and Phylogeny
Journal of Molecular Evolution, 2006The 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 ...
Hebsgaard, Martin B +4 more
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Genetic toxicity evaluation of octamethylcyclotetrasiloxane
Environmental and Molecular Mutagenesis, 2000Octamethylcyclotetrasiloxane (OMCTS; CAS No. 556-67-2) was evaluated in a genetic toxicity battery. In preincubation tests with Salmonella typhimurium strains TA98, TA100, TA1535, TA1537, and TA1538, no mutagenicity was detected (maximum dose = 5 mg/plate) with or without S9 in two independent trials.
J S, Vergnes +4 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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