Results 91 to 100 of about 7,007 (202)

From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders [PDF]

open access: yes, 2009
BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other ...
Chitayat, D   +3 more
core  

Colostomy in Anorectal Malformation and Hirschsprung’s Disease in Infants and Children [PDF]

open access: yes, 2018
Background: There are numerous and frequent common complications following construction of large bowel stomas, which may lead to significant morbidity and mortality. The overall morbidity from colostomy has been reported to be as high as 42-75%.
Hasan, Helen Samer   +2 more
core   +2 more sources

An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster

open access: yesJournal of Cellular Physiology, Volume 239, Issue 12, December 2024.
Abstract Ulnar mammary syndrome (UMS) results from heterozygous variants in the TBX3 gene and impacts limb, tooth, hair, apocrine gland, and genitalia development. The expressivity of UMS is highly variable with no established genotype–phenotype correlations.
Irene Bottillo   +12 more
wiley   +1 more source

Evaluation of an experimental model for anorectal anomalies induced by ethylenethiourea Avaliação de um modelo experimental de anomalia anorretal induzida pela etilenotiouréia

open access: yesActa Cirúrgica Brasileira, 2007
PURPOSE: To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). METHODS: Rat fetuses were utilized, divided into two groups: experimental group - fetuses from rats that ...
Maurício Macedo   +2 more
doaj   +1 more source

Fistulectomy and anoplasty for low imperforate anus with anoperineal fistula in boys [PDF]

open access: yes, 2011
Purpose To present our operative technique for the treatment of anoperineal fistula, discussing its advantages in comparison with other methods of treatment. Patients and methods This study included 35 neonate boys, 34 were full term and one was preterm.
Ibrahim, IA
core   +2 more sources

Short‐ and Long‐Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI

open access: yesPrenatal Diagnosis, Volume 44, Issue 13, Page 1574-1584, December 2024.
ABSTRACT Objective Providing accurate prenatal prognostication for expectant parents is challenging due to limited literature on factors impacting outcomes in children with congenital aqueductal stenosis (CAS). This study stratified CAS patients into isolated or complex categories (presence of additional intra‐ or extra‐cranial anomalies or genetic ...
Noah J. Smith   +5 more
wiley   +1 more source

Marine Flora and Fauna of the Northeastern United States: Erect Bryozoa [PDF]

open access: yes, 1991
Forty-nine species of erect Bryozoa from a broad range of Cyclostome, Ctenostome, and Cheilostome families are described and illustrated, and an artificial dichotomous key is provided for their identification.
Hayward, Peter J., Ryland, John S.
core  

Studies of Marine Bryozoa. IX, Phylactellipora [PDF]

open access: yes, 1957
Author Institution: Department of Biology, College of New Rochelle, New Rochelle, New ...
Rogick, Mary Dora
core  

Angka Keberhasilan Posterosagittal Anorectoplasty (Psarp) yang Dinilai dari Skor Klotz pada Pasien Malformasi Anorektal Dibangsal Bedah RSUD Arifin Achmad Provinsi Riau Periode Januari 2009 – Desember 2014 [PDF]

open access: yes, 2014
Posterosagittal anorectoplasty (PSARP) is the newest and most widely used technique for the treatment of anorectal malformation (ARM). Standardized assessment of clinical outcome after repairment of ARM can be measured by Klotz score.
Masdar, H. (Huriatul)   +2 more
core  

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