Results 91 to 100 of about 3,428 (220)
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source
Surgical approach to limiting skin contracture following protractor myectomy for essential blepharospasm [PDF]
, 2017 Purpose: To report our experience with protractor myectomy in patients with benign essential blepharospasm who did not respond to serial botulinum toxin injection, and to describe intra- and postoperative techniques that limited skin contracture while
Clark, Jeremy +5 more
core +1 more source
BMC Medical Genetics, 2018 Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan +4 more
doaj +1 more source
Germ line control of female sex determination in zebrafish [PDF]
, 2008 A major transition during development of the gonad is commitment from an undifferentiated “bi-potential” state to ovary or testis fate. In mammals, the oogonia of the developing ovary are known to be important for folliculogenesis.
Nüsslein-Volhard, Christiane +1 more
core +1 more source
Management of congenital blepharoptosis in pediatric patients
Journal of Pediatric Surgery OpenIntroduction: Palpebral ptosis corresponds to the lowered positioning of the upper eyelid margin (MRD1) in primary gaze. The objective of this work is to present the response to surgical treatment of palpebral ptosis operated in the last 3 years. Methods:
Angélica Paulos +5 more
doaj +1 more source
Indian Journal of Ophthalmology, 2007 A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported.
Vedantham Vasumathy +3 more
doaj
Delhi Journal of Ophthalmology, 2012 Purpose: To compare Triangular technique, Double Triangular technique and Pentagonal technique of Frontalis Sling surgery in ptosis correction in congenital ptosis patients. Methods: Cases with bilateral congenital simple ptosis with poor levator action,
Kumar Vivek +6 more
doaj +1 more source
An initial comparative map of copy number variations in the goat (Capra hircus) genome [PDF]
, 2010 Background: The goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals.
Luca Fontanesi +8 more
core +5 more sources
Surgical strategy for congenital blepharophimosis syndrome
Chinese Medical Journal, 2007 So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.From 2003 to 2005, we adopted an one-stage technique combining blepharoptosis correction with medial canthoplasty in 16 patients with congenital ...
Wei-qing, Huang +4 more
openaire +2 more sources
Protein-Protein Interaction Among the FoxP Family Members and their Regulation of Two Target Genes, VLDLR and CNTNAP2 in the Zebra Finch Song System [PDF]
, 2017 The Forkhead transcription factor FOXP2 is implicated in speech perception and production. The avian homolog, FoxP21 contributes to song learning and production in birds.
Mendoza, Ezequiel, Scharff, Constance
core +2 more sources