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

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https://www.readbyqxmd.com/read/29178447/phenotype-and-genotype-analysis-of-a-french-cohort-of-119-patients-with-charge-syndrome
#1
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin-Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent-Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu-Dramard, Marie-Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quélin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne-Marie Guerrot, Massimiliano Rossi, Alice Masurel-Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez-Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%...
November 27, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29171162/new-insights-and-advances-in-charge-syndrome-diagnosis-etiologies-treatments-and-research-discoveries
#2
Conny van Ravenswaaij-Arts, Donna M Martin
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when CHD7 was identified as the major causative gene in CHARGE, several animal models (mice, zebrafish, flies, and frog) and cell-based systems have been developed to explore the underlying pathophysiology of this condition...
November 24, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29168327/distinct-cerebellar-foliation-anomalies-in-a-chd7-haploinsufficient-mouse-model-of-charge-syndrome
#3
Danielle E Whittaker, Sahrunizam Kasah, Alex P A Donovan, Jacob Ellegood, Kimberley L H Riegman, Holger A Volk, Imelda McGonnell, Jason P Lerch, M Albert Basson
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29168326/guidelines-in-charge-syndrome-and-the-missing-link-cranial-imaging
#4
REVIEW
Christa M de Geus, Rolien H Free, Berit M Verbist, Deborah A Sival, Kim D Blake, Linda C Meiners, Conny M A van Ravenswaaij-Arts
"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29159871/immunodeficiency-in-charge-syndrome
#5
REVIEW
Sam Mehr, Peter Hsu, Dianne Campbell
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11...
November 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#6
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29088513/clinical-and-molecular-effects-of-chd7-in-the-heart
#7
REVIEW
Nicole Corsten-Janssen, Peter J Scambler
Heart defects caused by loss-of-function mutations in CHD7 are a frequent cause of morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. The types of heart defects found in patients with CHD7 mutations are variable, with an overrepresentation of atrioventricular septal defect and outflow tract defect including aortic arch anomalies compared to nonsyndromic heart defects. Chd7 haploinsufficiency in mouse is a good model for studying the heart effects seen in CHARGE syndrome, and mouse models reveal a role for Chd7 in multiple lineages during heart development...
October 31, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29088501/genetic-counseling-in-charge-syndrome-diagnostic-evaluation-through-follow-up
#8
REVIEW
Margaret A Hefner, Emily Fassi
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies...
October 31, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082627/gastrointestinal-and-feeding-difficulties-in-charge-syndrome-a-review-from-head-to-toe
#9
REVIEW
Kim D Blake, Alexandra S Hudson
CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082625/charged-with-neural-crest-defects
#10
REVIEW
Silke Pauli, Ruchi Bajpai, Annette Borchers
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082623/behavior-in-charge-syndrome
#11
REVIEW
Timothy S Hartshorne, Kasee K Stratton, David Brown, Shanti Madhavan-Brown, Megan C Schmittel
Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question of common sources for these behaviors. This article addresses how pain, sensory issues, and anxiety may impact the behavior of individuals with CHARGE syndrome, and how the development of self-regulation skills might help to mitigate some of the behaviors...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29082607/inner-ear-manifestations-in-charge-abnormalities-treatments-animal-models-and-progress-toward-treatments-in-auditory-and-vestibular-structures
#12
REVIEW
Daniel I Choo, Kareem O Tawfik, Donna M Martin, Yehoash Raphael
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29232059/cover-image-volume-175c-number-4-december-2017
#13
(no author information available yet)
The cover image, by Conny Van Ravenswaaij-Arts and Donna M. Martin, is based on the Introduction New Insights and Advances in CHARGE Syndrome: Diagnosis, Etiologies, Treatments, and Research Discoveries, DOI: 10.1002/ajmg.c.31592.
December 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29232058/table-of-contents-volume-175c-number-4-december-2017
#14
(no author information available yet)
No abstract text is available yet for this article.
December 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29232057/publication-schedule-for-2017
#15
(no author information available yet)
No abstract text is available yet for this article.
December 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28910526/genetic-rodent-models-of-brain-disorders-perspectives-on-experimental-approaches-and-therapeutic-strategies
#16
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
#17
(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
#18
(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
#19
(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
#20
Matt McGue
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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