Results 111 to 120 of about 241,099 (281)

Comparison of the Surgical Results of Ventral and Dorsal Dartos Flaps in Tubularized Incised Plate Urethroplasty for Distal Hypospadias: A Randomized Clinical Trial

Urology Research and Practice
Objective: Hypospadias is one of the most common congenital anomalies of the uro genital system. Various surgical methods exist to repair this condition, all aiming to create a straight penis, ensure proper placement of the meatus, and achieve a ...
Fateme Tahmasbi, Javad Aliasgarzadeh, Mohsen Mohammad-Rahimi, Behzad Lotfi   +3 more
doaj   +1 more source

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

Improving the quality of life of parents of patients with congenital abnormalities using psychoeducational interventions: a systematic review. [PDF]

Qual Life Res, 2023
Rodrigues MG, Rodrigues JD, Soares MM, Azevedo LF, Rodrigues PP, Areias JC, Areias ME.   +6 more
europepmc   +1 more source

Clinical Abnormalities found in Newborns with Symptomatic Congenital CMV Infection.

, 2016
Clinical Abnormalities found in Newborns with Symptomatic Congenital CMV Infection.
Muhammad Masroor Alam (404086), Shahzad Shaukat (404089), Salmaan Sharif (404090), Uzma Bashir Aamir (311025), Mehar Angez (404091), Syed Sohail Zahoor Zaidi (311037), Aamer Ali Shah (847823), Ghulam Mujtaba (3159753), Massab Umair (3159750), Muhammad Suleman Rana (404088), Adnan Khurshid (404087)   +10 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis. [PDF]

BMJ Open, 2023
Huang S, Wang J, Xiong Y, Liu C, Qi Y, Zou K, Tan J, Sun X.   +7 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]

JCI Insight, 2022
Martinez ME, Pinz I, Preda M, Norton CR, Gridley T, Hernandez A.   +5 more
europepmc   +1 more source

The accuracy of ultrasound in the diagnosis of congenital abnormalities

, 2006
Objective: To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi.Methods: The data of congenital abnormalities was obtained from the obstetrical database and medical records of ...
Khuwaja, Nadya Ali, Munim, Shama, Nadeem, Salva   +2 more
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source