Results 91 to 100 of about 126,489 (248)

The Prenatal Diagnosis of Hereditary Disorders [PDF]

, 1974
Alan E H Emery
openalex   +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

POSSIBILITY OF PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY (DMD) [PDF]

, 1977
Florence P. Haseltine, Maurice J Mahonev, John C. Hobbins, C. Thomas Caskey, Leon Roaenberg   +4 more
openalex   +1 more source

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

Prenatal diagnosis. [PDF]

, 1971

openalex   +1 more source

Prevalence and Factors Associated With Alleged Offending Among Children Aged 10–13 Years in the Northern Territory of Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recent policy discourse in Australia focuses on the minimum age of criminal responsibility with minimal attention to prevention strategies. Guided by theory which views child development within nested environmental contexts and recognises the cumulative impact of risk factors, this retrospective cohort study uses de‐identified linked ...
Vincent Yaofeng He, Steven Roche, Jenny Williams, Tamika Williams, Steven Guthridge   +4 more
wiley   +1 more source

Carrier Detection and Prenatal Diagnosis of Tay-Sachs Disease [PDF]

, 1974
Rebecca Ellis
openalex   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, EarlyView.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

Klippel-Trénaunay-Weber Syndrome: Prenatal Diagnosis and Review of the Literature. [PDF]

J Clin Ultrasound
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Orlandi G, Sarno L, Angelino A, Motta M, Di Girolamo R, Carbone L, Rovetto M, Mazzarelli LL, Sglavo G, D' Antonio F, Mappa I, Di Mascio D, Rizzo G, Maria Maruotti G.   +13 more
europepmc   +2 more sources