Results 21 to 30 of about 22,168 (264)
Foot & Ankle Surgery: Techniques, Reports & Cases, 2022 Polydactyly is recognized to be one of the most common hereditary limb deformities. Preaxial polydactyly with osseous involvement is rarely seen. We present a case of a bilateral preaxial polydactyly of the hallux complicated by syndactyly of the first ...
Amida Kuah, DPM +1 more
doaj +1 more source
Adverse social determinats and risk for congenital anomalies [PDF]
, 2014 INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe +8 more
core +3 more sources
Polydactyly in the Tyrrhenian wall lizard (Podarcis tiliguerta)
Acta Herpetologica, 2013 Polydactyly is a fairly frequent phenomenon in tetrapod populations, but it is relatively rare in reptiles. Here we report the occurrence of polydactyly in a random sample of the Tyrrhenian wall lizard (Podarcis tiliguerta) from Sardinia. In the locality
Antigoni Kaliontzopoulou +4 more
doaj +1 more source
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +6 more sources
Вавиловский журнал генетики и селекции, 2021 The article describes a new phenomenon in the breeding group of mini-pigs at the Institute of Cytology and Genetics (ICG, Novosibirsk): polydactyly (extra digits), which is unusual because the additional digits are situated at the lateral surface of legs
S. V. Nikitin +9 more
doaj +1 more source
A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. [PDF]
, 2020 PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types ...
Ahituv, Nadav +19 more
core
Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
core +2 more sources
Digit patterning during limb development as a result of the BMP-receptor interaction [PDF]
, 2012 Turing models have been proposed to explain the emergence of digits during limb development. However, so far the molecular components that would give rise to Turing patterns are elusive.
Badugu, Amarendra +4 more
core +2 more sources
Idiopathic talipes equinovarus with preaxial polydactyly of the foot: a case report
Medicine Science, 2017 The aim of this study is to report an unusual combination of congenital idiopathic talipes equinovarus with preaxial polydactyly of the foot. A newborn infant was brought to the polyclinic at the age of 1 week. In the right foot, preaxial polydactyly was
Ali Tufan Pehlivan +2 more
doaj +1 more source