Youngson and Whitelaw, 2008
... states, most gene regulatory, i.e., epigenetic, information is not transferred between generations. Several mechanisms have evolved to erase the marks, including germline and somatic reprogramming of DNA methylation and chromatin proteins. However, we know that at some loci the epigenetic marks are ...
... states, most gene regulatory, i.e., epigenetic, information is not transferred between generations. Several mechanisms have evolved to erase the marks, including germline and somatic reprogramming of DNA methylation and chromatin proteins. However, we know that at some loci the epigenetic marks are ...
Jaw and branchial arch mutants in zebrafish I: branchial
... Krumlauf, 1994). Additional genes shown to have essential roles in arch patterning include other transcription factors such as dlx-2 (Qiu et al., 1995) and msx-1 (Satokata and Maas, 1994), and retinoic acid and its receptors (Lee et al., 1995; Lohnes et al. 1994). Despite these advances, a limited n ...
... Krumlauf, 1994). Additional genes shown to have essential roles in arch patterning include other transcription factors such as dlx-2 (Qiu et al., 1995) and msx-1 (Satokata and Maas, 1994), and retinoic acid and its receptors (Lee et al., 1995; Lohnes et al. 1994). Despite these advances, a limited n ...
International Agency for Research on Cancer (IARC)
... Ethylene oxide was not teratogenic to rats or rabbits exposed by inhalation to concentrations up to 150 ppm [270 mg/m3]. It was teratogenic to mice after intravenous injection in a single study. Surprisingly, brief exposure of dams around the time of fertilization to a high concentration ...
... Ethylene oxide was not teratogenic to rats or rabbits exposed by inhalation to concentrations up to 150 ppm [270 mg/m3]. It was teratogenic to mice after intravenous injection in a single study. Surprisingly, brief exposure of dams around the time of fertilization to a high concentration ...
A Mutation in LTBP2 Causes Congenital Glaucoma in
... million people worldwide [1]. Maintenance of an intraocular pressure (IOP) within a defined normal range is vital to the structural and physiological well-being of the eye. Aqueous humor is continuously produced by the ciliary body epithelium and is drained from the anterior chamber of the eye to th ...
... million people worldwide [1]. Maintenance of an intraocular pressure (IOP) within a defined normal range is vital to the structural and physiological well-being of the eye. Aqueous humor is continuously produced by the ciliary body epithelium and is drained from the anterior chamber of the eye to th ...
Table 2
... BAV as well as thoracic aortic aneurysms, premature coronary artery disease, and cerebrovascular disease (19). NOTCH1 mutations predispose to BAV with calcific aortic stenosis but are not associated with aortic disease or other extracardiac abnormalities. ...
... BAV as well as thoracic aortic aneurysms, premature coronary artery disease, and cerebrovascular disease (19). NOTCH1 mutations predispose to BAV with calcific aortic stenosis but are not associated with aortic disease or other extracardiac abnormalities. ...
Medical genetic studies in the Amish: Historical perspective
... following an explanation of the study during a house call. In spite of that high uptake, a significant portion of the ...
... following an explanation of the study during a house call. In spite of that high uptake, a significant portion of the ...
Fluid compartments of the embryonic environment
... plasma membrane or tissue and it is, therefore, not surprising that no significant difference was observed between urea concentration in maternal serum and both embryonic compartments (Table I). However, a gradient is observed for slightly larger molecules, e.g. creatinine. These findings indicate t ...
... plasma membrane or tissue and it is, therefore, not surprising that no significant difference was observed between urea concentration in maternal serum and both embryonic compartments (Table I). However, a gradient is observed for slightly larger molecules, e.g. creatinine. These findings indicate t ...
neo/55(p). - Indian Academy of Pediatrics
... OBJECTIVE: To evaluate the indications, duration and associated complications of mechanical ventilation in NICU at a referral tertiary care hospital in PUNE STUDY: It’s a retrospective analysis of indications,modality,duration and complications associated with neonatal mechanical ventilation over a ...
... OBJECTIVE: To evaluate the indications, duration and associated complications of mechanical ventilation in NICU at a referral tertiary care hospital in PUNE STUDY: It’s a retrospective analysis of indications,modality,duration and complications associated with neonatal mechanical ventilation over a ...
Q Connect Texas 2
... Auditory Neuropathy/Auditory Dys-synchrony Currently, these are terms that describe a newly identified hearing condition that involves inefficient processing of sound somewhere between the inner hair cells in the cochlea and the brain. Based on what is currently known through research, this general ...
... Auditory Neuropathy/Auditory Dys-synchrony Currently, these are terms that describe a newly identified hearing condition that involves inefficient processing of sound somewhere between the inner hair cells in the cochlea and the brain. Based on what is currently known through research, this general ...
Proof-of-principle rapid noninvasive prenatal diagnosis
... disease, on the other hand, this is not the case. In order for NIPD to take hold in the clinical setting, it will be necessary to develop universal methodologies that apply to the diagnosis of any mutation, maternal or paternal, regardless of inheritance. Although some universal techniques for NIPD ...
... disease, on the other hand, this is not the case. In order for NIPD to take hold in the clinical setting, it will be necessary to develop universal methodologies that apply to the diagnosis of any mutation, maternal or paternal, regardless of inheritance. Although some universal techniques for NIPD ...
Rare inherited disorders of fibrinogen
... functional assay of fibrinogen yields low levels compared with immunological assays but levels may be concordant and functional levels may be normal. Therefore, a discrepancy between clottable protein and immunologically measured fibrinogen is characteristic of dysfibrinogenemia. A prolonged reptila ...
... functional assay of fibrinogen yields low levels compared with immunological assays but levels may be concordant and functional levels may be normal. Therefore, a discrepancy between clottable protein and immunologically measured fibrinogen is characteristic of dysfibrinogenemia. A prolonged reptila ...
Characterisation of interstitial duplications and triplications of
... showed that, in all cases, the duplications and triplications involved the PWACR and were not pseudogene expansions. Retrospective cytogenetic analysis in families 7 and 13 did not identify these duplications clearly. The size of the pericentromeric area of 15q varies greatly within the normal popul ...
... showed that, in all cases, the duplications and triplications involved the PWACR and were not pseudogene expansions. Retrospective cytogenetic analysis in families 7 and 13 did not identify these duplications clearly. The size of the pericentromeric area of 15q varies greatly within the normal popul ...
Genetics and You - Cleft Palate Foundation
... There are currently no treatments for unborn babies with clefts. The condition cannot be repaired before birth. However, babies can have surgical treatment and cleft care in their early years of life. There is some evidence that taking folic acid before becoming pregnant may reduce the risk for isol ...
... There are currently no treatments for unborn babies with clefts. The condition cannot be repaired before birth. However, babies can have surgical treatment and cleft care in their early years of life. There is some evidence that taking folic acid before becoming pregnant may reduce the risk for isol ...
What is Arsenic
... you experienced within the past several days. The results can sometimes be misleading, as the non‐ harmful forms of arsenic found in fish and shellfish can produce a high reading even if toxic exposure has not occurred. Because most arsenic leaves the body within a few days, urine analysis cannot ...
... you experienced within the past several days. The results can sometimes be misleading, as the non‐ harmful forms of arsenic found in fish and shellfish can produce a high reading even if toxic exposure has not occurred. Because most arsenic leaves the body within a few days, urine analysis cannot ...
Medical genetics
... C Only on the particular stages of metabolism; D Only by the loss of function of protein E Does not show up clinically. Neurofibromatosis is diagnosed on the basis of: A Clinical and biochemical data; B *Clinical presentation C Research of enzyme type; D Cytological research; E Pathomorphologically ...
... C Only on the particular stages of metabolism; D Only by the loss of function of protein E Does not show up clinically. Neurofibromatosis is diagnosed on the basis of: A Clinical and biochemical data; B *Clinical presentation C Research of enzyme type; D Cytological research; E Pathomorphologically ...
Understanding the basis of auriculocondylar syndrome: Insights
... Aurora, CO 80045. E‐mail: [email protected] Correspondence to: Christopher T. Gordon, Ph.D., INSERM U781, Tour Lavoisier 2eme etage, Hopital Necker‐Enfants Malades, 149 rue de Sevres, Paris 75015, France. E‐mail: [email protected] DOI 10.1002/ajmg.c.31376 Article first published onlin ...
... Aurora, CO 80045. E‐mail: [email protected] Correspondence to: Christopher T. Gordon, Ph.D., INSERM U781, Tour Lavoisier 2eme etage, Hopital Necker‐Enfants Malades, 149 rue de Sevres, Paris 75015, France. E‐mail: [email protected] DOI 10.1002/ajmg.c.31376 Article first published onlin ...
Renal and cerebral circularity reponses to hypoxemia in the ovine
... importance (Avner 1990). Without sufficient amniotic fluid, the development of the fetal lung, limb and gut may be impaired, sometimes to the point where life after birth is not possible (Lumbers 1995). So, in contrast to the adult kidney, the fetal kidney plays an essential role in providing the en ...
... importance (Avner 1990). Without sufficient amniotic fluid, the development of the fetal lung, limb and gut may be impaired, sometimes to the point where life after birth is not possible (Lumbers 1995). So, in contrast to the adult kidney, the fetal kidney plays an essential role in providing the en ...
105 - Heritable Diseases of Connective Tissue
... share a molecular basis or pathway. The most recent updated classification can be found at www.isds.ch. Some of the chondrodysplasia families are listed in Table 105-1. The most widely used method for differentiating the skeletal disorders has been through the detection of skeletal radiographic abno ...
... share a molecular basis or pathway. The most recent updated classification can be found at www.isds.ch. Some of the chondrodysplasia families are listed in Table 105-1. The most widely used method for differentiating the skeletal disorders has been through the detection of skeletal radiographic abno ...
Glucose - South Dakota Perinatal Association
... Nutritional status Maternal chronic illness/stress Ingestion of drugs/toxins Some maternal medications ...
... Nutritional status Maternal chronic illness/stress Ingestion of drugs/toxins Some maternal medications ...
Psychological Medicine Neurodevelopmental disorders: Cluster 2 of
... Shared genetic and familial risk factors It is implicit from the early onset and marked deficits of the disorders considered for inclusion in this cluster that genetic factors could be salient in their development. The genetic determinants of syndromes that are not included in DSM-IV or ICD-10 but th ...
... Shared genetic and familial risk factors It is implicit from the early onset and marked deficits of the disorders considered for inclusion in this cluster that genetic factors could be salient in their development. The genetic determinants of syndromes that are not included in DSM-IV or ICD-10 but th ...
CCMG Guidelines: Prenatal and Postnatal Diagnostic Testing for
... and containing no apparent euchromatic material, but which may be indicative of a trisomy rescue event; ¾ newborns with neonatal diabetes mellitus; ¾ patients with clinical features suggestive of maternal or paternal UPD14; and patients found to be homozygous for an autosomal recessive disease causi ...
... and containing no apparent euchromatic material, but which may be indicative of a trisomy rescue event; ¾ newborns with neonatal diabetes mellitus; ¾ patients with clinical features suggestive of maternal or paternal UPD14; and patients found to be homozygous for an autosomal recessive disease causi ...
Spina Bifida
... • 27-year old woman, with a 23-week gestation fetus • Lesion in the thoracolumbosacral (T11-S1 level) was detected at 20 weeks, in addition α-fetoprotein was raised. Arnold-Chiari II malformations were detected • Good leg movements were detected in the fetus • Surgery: A low transverse maternal lapa ...
... • 27-year old woman, with a 23-week gestation fetus • Lesion in the thoracolumbosacral (T11-S1 level) was detected at 20 weeks, in addition α-fetoprotein was raised. Arnold-Chiari II malformations were detected • Good leg movements were detected in the fetus • Surgery: A low transverse maternal lapa ...
Types of endocrine disorders
... cells of organs which do not belong to the glands of internal secretion. It is an ectopic production of hormones, which is autonomous and causes the origin of ectopicly conditioned endocrine hyperfunction (ectopic endocrine syndrome). As a rule it is the consequence of production of hormones from no ...
... cells of organs which do not belong to the glands of internal secretion. It is an ectopic production of hormones, which is autonomous and causes the origin of ectopicly conditioned endocrine hyperfunction (ectopic endocrine syndrome). As a rule it is the consequence of production of hormones from no ...
Twinning and Embryonic Left-Right Asymmetry
... etc. if the cells are separated at an early stage. In contrast, the asymmetry of the major body organs seems to be unspecified (or at least, plastic enough to be re-specified) at those stages, and is developed correctly for both monozygotic twins. This may be related to the fact that heterotaxic rev ...
... etc. if the cells are separated at an early stage. In contrast, the asymmetry of the major body organs seems to be unspecified (or at least, plastic enough to be re-specified) at those stages, and is developed correctly for both monozygotic twins. This may be related to the fact that heterotaxic rev ...
Genetic Information on Cleft Lip and/or Palate General information
... the lip alone is unilaterally cleft, whereas in the most severe form, the lip and palate are affected on both sides. ...
... the lip alone is unilaterally cleft, whereas in the most severe form, the lip and palate are affected on both sides. ...