Results 81 to 90 of about 67,545 (327)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]

, 2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker, Beckman, Bernstein, Breslin, Breslin, Brodsky, Buck, Buck, Caldecott, Caldecott, Chappell, Christopher A. Walsh, Date, Dingwall, Dobson, Edward C. Gilmore, El-Khamisy, Evans, Garces, Hsiang, Interthal, John J. Reynolds, Karimi-Busheri, Keith W. Caldecott, Koch, Kouzminova, Kuzminov, Lee, Lindahl, Loizou, McCullough, Moreira, Riballo, Segal-Raz, Shen, Sprules, Takashima, Wang, Wang, Ward, Ward, Whitehouse   +41 more
core   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

The Impact of the Zika Epidemic on Women’s Reproductive Intentions and Behaviors in Brazil [PDF]

, 2017
This research brief reports on a focus group study that explores how and why the Zika virus affects reproductive processes in Brazil. The authors found that both reproductive intentions and behaviors changed as a result of the Zika epidemic among women ...
Alves, Sandra Valongueiro, Coutinho, Raquel Zanatta, Marteleto, Leticia J., Weitzman, Abigail   +3 more
core   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Travel-Associated Zika Virus Disease Acquired in the Americas Through February 2016 [PDF]

, 2016
BACKGROUND: Zika virus has spread rapidly in the Americas and has been imported into many nonendemic countries by travelers. OBJECTIVE: To describe clinical manifestations and epidemiology of Zika virus disease in travelers exposed in the Americas ...
Asgeirsson, Hilmir, Barbre, Kira A., Caumes, Eric, Chen, Lin H., et al., Genderen, Perry J.Jl van, Goorhulis, Abraham, Grobusch, Martin P., Hagmann, Stefan H., Hamer, Davidson, Kozarsky, Phyllis E., Molina, Israel, Schlagenhauf, Patricia   +12 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Available Evidence of Association between Zika Virus and Microcephaly

Chinese Medical Journal, 2016
Objective: To clarify the possible association between the Zika virus (ZIKV) and microcephaly and understand where we are in terms of research and the debate on the causation between mild maternal clinical features and severe fetal microcephaly.
Jing Wu, Da-Yong Huang, Jun-Tao Ma, Ying-Hua Ma, Yi-Fei Hu   +4 more
doaj   +1 more source

Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study

Global Pediatric Health, 2021
There are gaps in understanding the causes and consequences of microcephaly. This paper describes the epidemiological characteristics, clinical presentations, and etiologies of children presenting microcephaly during the Zika outbreak in Argentina.
Griselda Berberian MD, Rosa Bologna MD, María Guadalupe Pérez MD, Andrea Mangano PhD, Marina Costa MSc, Silvana Calligaris MD, María Alejandra Morales MSc, Carlos Rugilo MD, Elisa Ruiz-Burga PhD, Claire Thorne PhD   +9 more
doaj   +1 more source