Results 21 to 30 of about 13,140 (207)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

PHENOTYPE-GENOTYPE AND PEDIGREE ANALYSIS OF ISOLATED HYPOSPADIAS PATIENTS

Jurnal Urologi Indonesia, 2018
Objective: Hypospadias is a malformation in urethra which has many range of severity. A patient with Isolated hypospadias (IH), a mild disorder of sex development (DSD) has a hypospadias phenotype only. Hypospadias is considered as multifactorial disease
Nura Eky Vikawati, Ardy Santosa, Achmad Zulfa Juniarto, Sultana MH Faradz   +3 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Nongenetic Risk Factors of Severe Hypospadias: A Case–Control Study

Journal of Indian Association of Pediatric Surgeons
Background: Various risk factors were contributed to hypospadias and may be varied by region and hypospadias severity. The study aims to analyze the nongenetic risk factors associated with severe hypospadias in a provincial referral hospital in West Java,
Vita Indriasari, Rizki Diposarosa, Yoni Fuadah Syukriani, Dedi Rachmadi   +3 more
doaj   +1 more source

Factors associated with reoperation in hypospadias surgery — A nationwide, population-based study

Asian Journal of Surgery, 2017
Background/Objective: To analyze the preoperative factors associated with the need for secondary surgery following primary urethroplasty. Methods: This study utilized a subset of the National Health Insurance Research Database, which includes the data on
Yu-Chuan Lu, Wei-Yi Huang, Yu-Fen Chen, Hong-Chiang Chang, Yuan-Hung Pong, Tsung-Hsien Shih, Kuo-How Huang   +6 more
doaj   +1 more source

Proximal Hypospadias [PDF]

The Scientific World JOURNAL, 2011
Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatal position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum.
Kate H. Kraft, Aseem R. Shukla, Douglas A. Canning   +2 more
openaire   +3 more sources

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study

Italian Journal of Pediatrics, 2009
Background Hypospadias is a congenital displacement of the urethral meatus in male newborns, being either an isolated defect at birth or a sign of sexual development disorders.
Magnani Cinzia, Gragnani Giuseppe S, Giuffrè Mario, Gerola Orietta, Di Stefano Maria C, De Santis Luisa, Danieli Roberto, Cocchi Guido, Celandroni Amerigo, Pardi Daniela, Bertelloni Silvano, Scaramuzzo Rosa T, Ghirri Paolo, Meossi Cristiano, Merusi Ilaria, Sabatino Giuseppe, Tumini Stefano, Corsello Giovanni, Boldrini Antonio   +18 more
doaj   +1 more source