Results 81 to 90 of about 7,052 (205)
Dermatology Online Journal, 2008 A case of Shah-Waardenburg syndrome, a rare variant of Waardenburg syndrome, is presented. Inherited as an autosomal recessive or dominant trait, the disorder presumably results from defective migration of neural crest cells. It clinically manifests with pigmentary anomalies and congenital megacolon.
openaire +4 more sources
Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]
, 2013 Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj +2 more
core +1 more source
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease [PDF]
, 2017 Hirschsprung disease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chronic constipation. Several genes involved in the disease have been identified.
Eichenberger, Christof +3 more
core
Nursing in Critical Care, Volume 30, Issue 4, July 2025.Abstract Background More self‐efficacy leads to greater confidence in one's ability to perform actions to achieve treatment goals. Therefore, self‐efficacy may affect patient recovery and health‐related quality of life (HRQoL) after ICU discharge. Aim In a cohort of mechanically ventilated COVID‐19 survivors, we examined the associations between self ...
Laura M. Tiels +10 more
wiley +1 more source
Genetic Consultations in Neuroophthalmology [PDF]
, 2017 The geneticist faced with severe neuroophthalmological conditions should not only establish the prognosis on the basis of probability laws, but also take into consideration the prevailing affective and social situation of these patients and their ...
Klein, D.
core
Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma [PDF]
, 2010 Background: Melanoma incidence is on the rise and advanced melanoma carries an extremely poor prognosis. Treatment options, including chemotherapy and immunotherapy, are limited and offer low response rates and transient efficacy. Thus, identification of
Yixiang Wang +4 more
core +2 more sources
Waardenburg syndrome type2 in a 10 month old infant; a case report
Journal of Mazandaran University of Medical Sciences, 2009 (Received 17 August, 2009 ; Accepted 9 December, 2009)AbstractBackground and purpose: Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues.
Salar Behzadnia
doaj
Prevalence and associated features of depression in women with Rett Syndrome [PDF]
, 2016 Background Little is known about depression among women with Rett syndrome (RTT) despite recent advances in knowledge about RTT. In this study, we aimed to establish the prevalence of depression among women with RTT as identified by a screening ...
Clarke, Angus John +4 more
core +2 more sources
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. [PDF]
, 2017 OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities.
Aluclu MU +37 more
core +2 more sources
Complete Acid Ceramidase ablation prevents cancer-initiating cell formation in melanoma cells [PDF]
, 2017 Acid ceramidase (AC) is a lysosomal cysteine hydrolase that catalyzes the conversion of ceramide into fatty acid and sphingosine. This reaction lowers intracellular ceramide levels and concomitantly generates sphingosine used for sphingosine-1-phosphate (
Ganesan, Anand +8 more
core +1 more source