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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

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https://www.readbyqxmd.com/read/28910526/genetic-rodent-models-of-brain-disorders-perspectives-on-experimental-approaches-and-therapeutic-strategies
#1
Christopher M McGraw, Christopher S Ward, Rodney C Samaco
Neurobehavioral disorders comprised of neurodegenerative, neurodevelopmental, and psychiatric disorders together represent leading causes of morbidity and mortality. Despite significant academic research and industry efforts to elucidate the disease mechanisms operative in these disorders and to develop mechanism-based therapies, our understanding remains incomplete and our access to tractable therapeutic interventions severely limited. The magnitude of these short-comings can be measured by the growing list of disappointing clinical trials based on initially promising compounds identified in genetic animal models...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28910525/table-of-contents-volume-175c-number-3-september-2017
#2
(no author information available yet)
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28910524/cover-image-volume-175c-number-3-september-2017
#3
(no author information available yet)
The cover image, by Gene S. Fisch, is based on the Introduction Introduction to Behavioral Phenotypes In Medical Genetics, DOI: 10.1002/ajmg.c.31573.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28910523/publication-schedule-for-2017
#4
(no author information available yet)
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28834228/irving-gottesman-and-the-concept-of-endophenotype
#5
Matt McGue
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28834174/phenotypes-pleiotropy-and-phylogeny
#6
John M Opitz
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28834162/whither-the-genotype-phenotype-relationship-an-historical-and-methodological-appraisal
#7
Gene S Fisch
More than a century ago, Wilhelm Johannsen proposed the terms "genotype" and "phenotype" to study heredity. Much of what we know about genetics and behavior has evolved since then, especially how causality from genotypes can be inferred from observational studies of phenotypes. Unfortunately, there are genotypes that produce complex clinical-behavioral phenotypes-pleiotropy. In addition, there are often many genotypes that produce the same phenotype, adding a layer of complexity in establishing valid genotype-phenotype relationships...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28834126/introduction-to-behavioral-phenotypes-in-medical-genetics
#8
Gene S Fisch
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28834083/microstructural-white-matter-tract-alteration-in-prader-willi-syndrome-a-diffusion-tensor-imaging-study
#9
Lauren J Rice, Jim Lagopoulos, Michael Brammer, Stewart L Einfeld
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28767187/phenotype-analysis-of-congenital-and-neurodevelopmental-disorders-in-the-next-generation-sequencing-era
#10
John C Carey
The designation, phenotype, was proposed as a term by Wilhelm Johannsen in 1909. The word is derived from the Greek, phano (showing) and typo (type), phanotypos. Phenotype has become a widely recognized term, even outside of the genetics community, in recent years with the ongoing identification of human disease genes. The term has been defined as the observable constitution of an organism, but sometimes refers to a condition when a person has a particular clinical presentation. Analysis of phenotype is a timely theme because advances in the understanding of the genetic basis of human disease and the emergence of next generation sequencing have spurred a renewed interest in phenotype and the proposal to establish a "Human Phenome Project...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28661580/a-review-of-endophenotypes-in-schizophrenia-and-autism-the-next-phase-for-understanding-genetic-etiologies
#11
Lisabeth F DiLalla, Megan McCrary, Emma Diaz
Many psychiatric disorders are caused by multiple genes and multiple environmental factors, making the identification of specific genetic risk factors for these disorders difficult. Endophenotypes are behaviors or characteristics that are intermediate between the genotype and a phenotype of interest. Because they are more directly related to the gene action than is the endpoint disorder, they may be useful in the identification of specific genes related to psychiatric disorders and the classification of disorders or traits that share an underlying genetic etiology...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28654717/similar-reliability-and-equivalent-performance-of-female-and-male-mice-in-the-open-field-and-water-maze-place-navigation-task
#12
Ann-Kristina Fritz, Irmgard Amrein, David P Wolfer
Although most nervous system diseases affect women and men differentially, most behavioral studies using mouse models do not include subjects of both sexes. Many researchers worry that data of female mice may be unreliable due to the estrous cycle. Here, we retrospectively evaluated sex effects on coefficient of variation (CV) in 5,311 mice which had performed the same place navigation protocol in the water-maze and in 4,554 mice tested in the same open field arena. Confidence intervals for Cohen's d as measure of effect size were computed and tested for equivalence with 0...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28580604/challenges-in-educating-patients-and-parents-about-differences-in-sex-development
#13
Elizabeth McCauley
This article reviews practical approaches to talking with parents and youth about Differences in Sex Development (DSD) which are conditions that affect chromosomal, gonadal, or anatomic sexual development, one of the most personal, and in our society, private areas of life. Talking with parents and patients about these conditions can be challenging given the complexity of sexual development and the sensitive nature of the information being shared. Changing approaches to disclosing or communicating information about conditions, such as DSD are reviewed as well as factors leading to revision in the diagnostic nomenclature...
June 5, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28577349/emerging-issues-in-disorders-differences-of-sex-development-dsd
#14
Margaret P Adam, Eric Vilain
Disorders/Differences of Sex Development (DSD), as defined by the 2006 Consensus Statement, are "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical." They represent a spectrum of chronic medical conditions collectively affecting about 1% of the population and are associated with increased risk of infertility, cancer, and psychosocial distress. Clinical management in DSD is subject to multiple controversies about gender assignment, the timing and appropriateness of genital surgery and the approach to disclosure...
June 3, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28621506/cover-image-volume-175c-number-2-june-2017
#15
(no author information available yet)
The cover image, by Louise Pyle and Katherine Nathanson, is based on the Research Review A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development, DOI: 10.1002/ajmg.c.31562.
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28621505/table-of-contents-volume-175c-number-2-june-2017
#16
(no author information available yet)
No abstract text is available yet for this article.
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28621504/publication-schedule-for-2017
#17
(no author information available yet)
No abstract text is available yet for this article.
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28574671/interdisciplinary-care-in-disorders-differences-of-sex-development-dsd-the-psychosocial-component-of-the-dsd-translational-research-network
#18
David E Sandberg, Melissa Gardner, Nina Callens, Tom Mazur
Scientific discovery and clinical management strategies for Disorders/Differences of Sex Development (DSD) have advanced in recent years. The 2006 Consensus Statement on Management of Intersex Disorders stated that a mental health component to care is integral to promote positive adaptation, yet the parameters of this element have not been described. The objective of this paper is threefold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD-Translational Research Network; to summarize psychosocial data collected at 1 of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes...
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28557237/disorders-of-sex-development-dsd-clinical-service-delivery-in-the-united-states
#19
Aimee M Rolston, Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach, Catherine Keegan, Emmanuèle Délot, Eric Vilain, David E Sandberg
Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at healthcare facilities in the United States. DSD are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Facilities providing care for patients with DSD were targeted for participation. Specialty providers completed a survey with questions in six broad categories: Institution Information, Nomenclature and Care Guidelines, Interdisciplinary Services, Staff and Community Education, DSD Management, and Research...
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28544433/gynecological-challenges-in-the-diagnosis-and-care-of-patients-with-dsd-the-role-of-the-obstetrician-gynecologist-in-the-multidisciplinary-approach-to-the-patient
#20
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sex development (DSD) are identified when there is atypical chromosomal, gonadal, or anatomic sex. Given the complexity of DSD conditions, the consensus guidelines recommend that affected individuals be evaluated and cared for by teams with expertise in DSD conditions. Obstetrician gynecologists are experts in genital and reproductive anatomy, hormonal function, fertility, sexuality, and obstetrics, allowing them to provide a unique and essential function within the DSD team. Furthermore, obstetrician gynecologists with expertise in Pediatric and Adolescent Gynecology may follow individuals from birth into adulthood and provide reproductive health care for all ages, allowing these patients to "grow up" with them...
June 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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