American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Table of Contents, Volume 175C, Number 2, June 2017
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 16, 2017 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION ‐TOC Source Type: research

Cover Image, Volume 175C, Number 2, June 2017
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. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 16, 2017 Category: Genetics & Stem Cells Tags: COVER IMAGE Source Type: research

Microstructural white matter tract alteration in Prader ‐Willi syndrome: A diffusion tensor imaging study
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. In the present study, we used diffusion tensor and magne...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Lauren J. Rice, Jim Lagopoulos, Michael Brammer, Stewart L. Einfeld Tags: RESEARCH ARTICLE Source Type: research

Phenotypes, pleiotropy, and phylogeny
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: John M. Opitz Tags: COMMENTARY Source Type: research

Irving Gottesman and the concept of endophenotype
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Matt McGue Tags: IN MEMORIAM Source Type: research

Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era
This article summarizes the principles of phenotype analysis that are important in medical genetics and describes approaches to comprehensive phenotype analysis in the investigation of patients with human disorders. I discuss the various elements related to disease phenotypes and highlight neurofibromatosis type 1 and the Elements of Morphology Project as illustrations of the principles. In recent years, the notion of “deep phenotyping” has emerged. Currently there are now a number of proposed strategies and resources to approach this concept. Not since the 1960s and 1970s has there been such an exciting time in the hi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: John C. Carey Tags: RESEARCH ARTICLE Source Type: research

A review of endophenotypes in schizophrenia and autism: The next phase for understanding genetic etiologies
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. We discuss genetic and endophenotype research on schizophr...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Lisabeth F. DiLalla, Megan McCrary, Emma Diaz Tags: RESEARCH ARTICLE Source Type: research

Similar reliability and equivalent performance of female and male mice in the open field and water ‐maze place navigation task
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 0.2 as equivalence margin. Despite the large sampl...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 1, 2017 Category: Genetics & Stem Cells Authors: Ann ‐Kristina Fritz, Irmgard Amrein, David P. Wolfer Tags: RESEARCH ARTICLE Source Type: research

Gynecological challenges in the diagnosis and care of patients with DSD: The role of the obstetrician gynecologist in the multidisciplinary approach to the patient
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 ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 25, 2017 Category: Genetics & Stem Cells Authors: Veronica Gomez ‐Lobo, Anne‐Marie Amies Oelschlager, Tags: COMMENTARY Source Type: research

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5 ‐alpha reductase type 2 deficiency
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5‐alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5‐alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rear...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - May 25, 2017 Category: Genetics & Stem Cells Authors: Heather M. Byers, Lauren H. Mohnach, Patricia Y. Fechner, Ming Chen, Inas H. Thomas, Linda A. Ramsdell, Margarett Shnorhavorian, Elizabeth A. McCauley, Anne ‐Marie E. Amies Oelschlager, John M. Park, David E. Sandberg, Margaret P. Adam, Catherine E. Kee Tags: RESEARCH ARTICLE Source Type: research

The evidence ‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers‐Danlos Syndrome‐hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescen...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Authors: Raoul H.H. Engelbert, Birgit Juul ‐Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C. Scheper, Leslie Russek, Jane V. Simmonds Tags: Research Article Source Type: research

Measurement properties of clinical assessment methods for classifying generalized joint hypermobility —A systematic review
In conclusion, following recommended uniformity of testing procedures, the recommendation for clinical use in adults is BS with cut‐point of 5 of 9 including historical information, while in children it is BS with cut‐point of at least 6 of 9. However, more studies are needed to conclude on the validity properties of these assessment methods, and before evidence‐based recommendations can be made for clinical use on the “best” assessment method for classifying GJH. © 2017 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Authors: Birgit Juul ‐Kristensen, Karoline Schmedling, Lies Rombaut, Hans Lund, Raoul H. H. Engelbert Tags: Research Review Source Type: research

Diagnosis, natural history, and management in vascular Ehlers –Danlos syndrome
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000–1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Authors: Peter H. Byers, John Belmont, James Black, Julie De Backer, Michael Frank, Xavier Jeunemaitre, Diana Johnson, Melanie Pepin, Leema Robert, Lynn Sanders, Nigel Wheeldon Tags: Research Article Source Type: research

The international consortium on the Ehlers –Danlos syndromes
Since 1998, two developments have led to concerns that the EDS nosology needs to be substantially revised. The first development was the clinical and molecular characterization of several new EDS variants, which substantially broadened the molecular basis underlying EDS. The second was the growing concern, in the absence of genetic diagnosis, that the hypermobile type of EDS had an expanded phenotype, may be genetically heterogeneous, and that the diagnostic criteria currently in use were inadequate. Furthermore, there is a dire need for the development of guidelines for management for each type of EDS to allow both the sp...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Authors: Lara Bloom, Peter Byers, Clair Francomano, Brad Tinkle, Fransiska Malfait, Tags: Introduction Source Type: research

Publication schedule for 2017
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research