Results 261 to 270 of about 1,790,196 (391)

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

Pharmacists' knowledge, attitudes, and practices toward preventing congenital disabilities: a cross sectional study in Saudi Arabia. [PDF]

BMC Health Serv Res
Alshehri FS, Alorfi NM, Ashour AM, Jairoun AA, Wali SM, Aldurdunji MM, Alsharif ST, Alhasani RH, Aldekhail NM, Alshehri AS, Hakami AY.   +10 more
europepmc   +1 more source

CONGENITAL AMPUTATION OF THE FOREARM

, 1955
George T. Aitken, Charles H. Frantz
openalex   +2 more sources

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

Estimating Congenital Cardiac Surgical Need in Africa Using Geographic Distribution of Surgeons. [PDF]

Ann Glob Health
Leith J, Harik L, An KR, Brashear T, Peck RN, Bhamidipati CM.   +5 more
europepmc   +1 more source

The Dental Aspect of the Treatment of Congenital Cleft Palates [PDF]

, 1921
W. Kelsey Fry
openalex   +1 more source

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

Vertical transmission of scrub typhus: a case report of congenital infection. [PDF]

Emerg Microbes Infect
Luo Y, Liao Z, Yang X, Li H, Chi J, Cha Z, Liu J, Ding C, Feng Y.   +8 more
europepmc   +1 more source

The Schorstein Lecture ON CONGENITAL PYLORIC STENOSIS: Delivered at the London Hospital, October, 1910 [PDF]

, 1910
R. Hutchison
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