Results 51 to 60 of about 26,178 (244)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Redo hypospadias surgery: current and novel techniques

open access: yesResearch and Reports in Urology, 2018
Sanjay B Kulkarni, Omkar Joglekar, Mohammad H Alkandari, Pankaj M Joshi Kulkarni Reconstructive Urology Center, Pune, India Abstract: Failed hypospadias includes patients with multiple attempts at hypospadias surgery. These present as recurrent stricture,
Kulkarni SB   +3 more
doaj  

Complex epithelial remodeling underlie the fusion event in early fetal development of the human penile urethra. [PDF]

open access: yes, 2016
We recently described a two-step process of urethral plate canalization and urethral fold fusion to form the human penile urethra. Canalization ("opening zipper") opens the solid urethral plate into a groove, and fusion ("closing zipper") closes the ...
Baskin, Laurence   +6 more
core  

Canalization of the Vestibular Plate in the Absence of Urethral Fusion Characterizes Development of the Human Clitoris: The Single Zipper Hypothesis. [PDF]

open access: yes, 2016
PurposeWe characterized the early gestation development of the female external genitalia using optical projection tomography to visualize anatomical structures at high resolution.Materials and methodsFirst and early second trimester human female fetal ...
Baskin, Laurence   +8 more
core   +2 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Development of the human prepuce and its innervation. [PDF]

open access: yes, 2020
Development of the human prepuce was studied over the course of 9-17 weeks of gestation in 30 specimens. Scanning electron microscopy revealed subtle surface features that were associated with preputial development, namely the appearance of epidermal ...
Baskin, Laurence S   +3 more
core  

Toxicity of Four Common Environmental Chemicals Across Caenorhabditis elegans Life Stages Supporting the One Health Concept

open access: yesEnvironmental Toxicology, EarlyView.
ABSTRACT Pesticides and pharmaceuticals are among the most common chemical groups in waterbodies and soils, and their universal distribution raises concerns about potential adverse effects on nontarget organisms and humans. Reproductive output disruption is of particular concern, as it transposes effects from the individual to the next generations at ...
Fábio Campos   +3 more
wiley   +1 more source

Prenatal Diagnosis of Isolated Hypospadias by Using “Tulip Sign” with Two and Three-Dimensional Ultrasonography

open access: yesGynecology Obstetrics & Reproductive Medicine, 2016
Hypospadias is an anomaly of the male urogenital tract which occurs as a result of deficient closure of the urethral groove. Hypospadias is the most commonly seen urogenital anomaly in male neonates, but it is rarely diagnosed during prenatal period ...
Sebahat Atar Gürel
doaj   +1 more source

Incidence of cleft lip and palate in Gorgan - Northern Iran: An epidemiological study [PDF]

open access: yes, 2012
Objective: Cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. This study was carried out to determine the incidence rate of oral clefting in Gorgan, Northern Iran during 2004-2009.
Golalipour, M.J.   +3 more
core   +2 more sources

Semen quality in patients with testicular cancer is associated with age and with greatly elevated levels of beta human chorionic gonadotropin

open access: yesAndrology, EarlyView.
Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann   +9 more
wiley   +1 more source

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