Results 221 to 230 of about 542,281 (388)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Antireflux mucosectomy in the management of gastroesophageal reflux disease with large hiatal hernia. [PDF]

Endoscopy
Kure M, Inoue H, Yamamoto K, Shimamura Y, Nishikawa Y, Tanaka I, Tanabe M.   +6 more
europepmc   +1 more source

Multiple General Anesthesias, Gastro-Esophageal Reflux and Spontaneous Esophageal Rupture

, 1967
Cerald L. Feinberg, Mark B. Ravix
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Hydrothermal duodenal mucosal resurfacing: a novel procedural therapy for metabolic disease

VideoGIE, 2016
Manoel Galvao Neto, MD, Leonardo Rodriguez, MD, Pablo Becerra, MD, Shweta Mani, MS, Richard Rothstein, MD   +4 more
doaj  

Association Between Laparoscopic Antireflux Surgery and Recurrence of Gastroesophageal Reflux

Journal of the American Medical Association (JAMA), 2017
J. Maret-Ouda, K. Wahlin, H. El‐Serag, J. Lagergren   +3 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

VESICOURETERAL REFLUX

, 1968
Takeshi Hara
openalex   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Ulcerative Esophagitis Caused by Cytomegalovirus During Infectious Mononucleosis in a Young and Immunocompetent Male Patient-A Case Report. [PDF]

Clin Case Rep
Apostolski D, Reitgruber D, Primus-Grabscheit C, Hetzmann Z, Auer J.   +4 more
europepmc   +1 more source