Results 131 to 140 of about 142,560 (388)

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

A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies [PDF]

, 2019
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments.
Cairns, Nigel J, et al,, Ghoshal, Nupur, Hsu, Simon, Karch, Celeste M, Marsh, Jacob A, Martinez, Rita, Norton, Joanne   +7 more
core   +1 more source

Chromosome Analysis Using Spectral Karyotyping (SKY)

Cell Biochemistry and Biophysics, 2011
Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique.
G. Imataka, O. Arisaka
semanticscholar   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Value of morphotyping for the characterization of Candida albicans clinical isolates

Memorias do Instituto Oswaldo Cruz, 2005
Until recently, morphotyping, a method evaluating fringe and surface characteristics of streak colonies grown on malt agar, has been recommended as a simple and unexpensive typing method for Candida albicans isolates.
Giovanni M Giammanco, Maria Manuel Lopes, Roney S Coimbra, Sarina Pignato, Patrick AD Grimont, Francine Grimont, Graciete Freitas, Giuseppe Giammanco   +7 more
doaj   +1 more source

Characterization of a continuous feline mammary epithelial cell line susceptible to feline epitheliotropic viruses. [PDF]

, 2009
Mucosal epithelial cells are the primary targets for many common viral pathogens of cats. Viral infection of epithelia can damage or disrupt the epithelial barrier that protects underlying tissues.
Heymer, Anna, Liu, Hongwei, Millon, Lee, Ossiboff, Robert J, Parker, John SL, Pesavento, Patricia, Stucker, Karla M, van der List, Deborah, Wood, Jason   +8 more
core  

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower‐Dose Estradiol Therapy for Healthy Bone Density and Quality

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The effect of estrogen deficiency on bone health in Turner syndrome (TS) may be a concern even before adulthood. Previous guidelines have discussed hormone replacement therapy (HRT) in children with TS. However, some practical issues related to puberty induction in TS require clarification, such as how to implement HRT to achieve adequate bone
Yukihiro Hasegawa, Kento Ikegawa, Takeshi Munenaga, Tomoyo Itonaga, Marie Mitani‐Konno, Masanobu Kawai, Naoko Amano   +6 more
wiley   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

Animal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao, Xinyi Zhou, Shigang Gu, Jianbo Li, Jing Wang, Yurong Zhang, Wenxuan Zhao, Xinhua Wei, Liting Lu, Quanmin Zhao, Yongye Huang, Dawei Yu   +11 more
wiley   +1 more source