Results 251 to 260 of about 61,000 (287)
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe +5 more
wiley +1 more source
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley +1 more source
Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source
Arthritis &Rheumatology, Volume 77, Issue 7, Page 929-941, July 2025.Objective To assess the value of serum type I interferon (IFN) score in predicting clinically meaningful progression in limited cutaneous systemic sclerosis (lcSSc) using a novel composite endpoint adopted from the MINIMISE clinical trial. Methods A retrospective, longitudinal lcSSc cohort was identified within a national, multicenter observational ...
Stefano Di Donato +9 more
wiley +1 more source
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The Journal of Pediatrics, 1981
It is now widely recognized that gastroesophageal reflux causes a number of symptoms in children. Numerous tests have been developed and document the presence of GER, but none is infallible, partially because some reflux is a normal phenomenon. A carefully obtained history and esophagram are the two most useful and available clinical tools. Other tests
H S, Winter, R J, Grand
openaire +4 more sources
It is now widely recognized that gastroesophageal reflux causes a number of symptoms in children. Numerous tests have been developed and document the presence of GER, but none is infallible, partially because some reflux is a normal phenomenon. A carefully obtained history and esophagram are the two most useful and available clinical tools. Other tests
H S, Winter, R J, Grand
openaire +4 more sources
Mechanisms of Gastroesophageal Reflux and Gastroesophageal Reflux Disease
Journal of Pediatric Gastroenterology and Nutrition, 2002ABSTRACTGastroesophageal reflux is a physiological phenomenon, occurring with different severity and duration in different individuals. Reflux disease occurs when this normal event results in the occurrence of symptoms/signs or complications. The pathophysiology of gastroesophageal reflux is complex and diverse, since it is influenced by factors that ...
Yvan Vandenplas, Eric Hassall
openaire +3 more sources
Gastroesophageal reflux disease
Current Opinion in Gastroenterology, 1998Gastroesophageal reflux disease (GERD) is a common chronic disorder affecting millions of people worldwide. This is a review of a number of published studies in the past year that increase current understanding or raise important issues about this disorder. Among the areas covered are the epidemiology and role of genetics in GERD; its pathogenesis with
A M, Rai, R C, Orlando
+11 more sources
Seminars in Pediatric Surgery, 2003
Gastroesophageal reflux is common in infants and generally resolves spontaneously within the first year of life as the lower esophageal sphincter mechanism matures. The reflux is only considered a "disease" (GERD) when it becomes symptomatic or causes pathological consequences.
L, Spitz, E, McLeod
openaire +2 more sources
Gastroesophageal reflux is common in infants and generally resolves spontaneously within the first year of life as the lower esophageal sphincter mechanism matures. The reflux is only considered a "disease" (GERD) when it becomes symptomatic or causes pathological consequences.
L, Spitz, E, McLeod
openaire +2 more sources
Pediatrics In Review, 1991
Gastroesophageal reflux is an important problem in children for several reasons. It occurs frequently; sometimes features perplexing and misleading symptoms; causes significant morbidity; and defies rapid, simple, and curative therapy. Thus, it is an important disorder for pediatricians to understand.
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Gastroesophageal reflux is an important problem in children for several reasons. It occurs frequently; sometimes features perplexing and misleading symptoms; causes significant morbidity; and defies rapid, simple, and curative therapy. Thus, it is an important disorder for pediatricians to understand.
openaire +4 more sources