Results 111 to 120 of about 140,678 (408)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

Molecular Cytogenetics, 2012
Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis.
Jinsong Gao, Congcong Liu, F. Yao, N. Hao, Jing Zhou, Qian Zhou, Liang Zhang, Xinyan Liu, X. Bian, Juntao Liu   +9 more
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Simultaneous precise editing of multiple genes in human cells

, 2019
. When double-strand breaks are introduced in a genome by CRISPR they are repaired either by non-homologous end joining (NHEJ), which often results ...
Chintalapati, M., Kanis, P., Macak, D., Maricic, T., Pääbo, S., Riesenberg, S.   +5 more
core   +1 more source

Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies.

Blood, 2011
Single nucleotide polymorphism arrays (SNP-As) have emerged as an important tool in the identification of chromosomal defects undetected by metaphase cytogenetics (MC) in hematologic cancers, offering superior resolution of unbalanced chromosomal defects
R. Tiu, L. Gondek, C. O'keefe, P. Elson, J. Huh, A. Mohamedali, A. Kulasekararaj, A. Advani, R. Paquette, A. List, M. Sekeres, M. McDevitt, G. Mufti, J. Maciejewski   +13 more
semanticscholar   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

A method for isolating and culturing placental cells from failed early equine pregnancies [PDF]

, 2016
Early pregnancy loss occurs in 6–10% of equine pregnancies making it the main cause of reproductive wastage. Despite this, reasons for the losses are known in only 16% of cases.
A.J. McGladdery, A.M. de Mestre, Allen, B.V. Rose, C. Smith, Cabrera-Sharp, D.C. Wathes, de Mestre, Diskin, F.E. Barrelet, Greenwold, H. Neal, Hamstead, I.J. Cameron, Inskeep, J. Crowhurst, J. Pynn, J.R. Crabtree, K.L.P. Verheyen, Lanoix, M.J. Firth, O.D. Pynn, Oriol, Petracchi, Raudsepp, Robbin, S. Bate, Seo, Strand, V. Cabrera-Sharp, Vanderwall, Z. Wise   +31 more
core   +1 more source

Karyotyping, is it Worthwhile in Transsexualism?

The Journal of Sexual Medicine, 2011
ABSTRACT Introduction Karyotyping is often performed in transsexual individuals. Aim Quantification and characterization of karyotype findings and abnormalities in transsexual persons.
Gunter Heylens, Eva Van Caenegem, Robert Rubens, Guy T'Sjoen, Els Elaut, Adrien Inoubli, Björn Menten, Griet De Cuypere   +7 more
openaire   +3 more sources

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source