Results 171 to 180 of about 436,985 (342)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Pathophysiology and Clinical Applications of Gastro-Esophageal Reflux Disease [PDF]

, 2017
Qindeel Kamran, Muhammad Danish Mund, Hafiz Akbar Ali, Muhammad Qasim Barkat   +3 more
openalex   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Association Between Non-erosive Reflux Disease and High Risk of Obstructive Sleep Apnea in Korean Population

, 2014
Chan Ran You, Jung Hwan Oh, Min‐Ji Seo, Hye Yeon Lee, Hyonsoo Joo, Sung Hoon Jung, Sang Haak Lee, Myung‐Gyu Choi   +7 more
openalex   +2 more sources

Differences in Dietary and Lifestyle Triggers between Non-Erosive Reflux Disease and Reflux Esophagitis—A Multicenter Cross-Sectional Survey in China [PDF]

, 2023
Yang Chen, Xiaohong Sun, Wenjuan Fan, Jiao Yu, Peng Wang, Dong Liu, Mingwei Song, Shi Liu, Xiuli Zuo, Rong Zhang, Yuantao Hou, Shaomei Han, Yanqing Li, Jun Zhang, Xiaoqing Li, Meiyun Ke, Xiucai Fang   +16 more
openalex   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Gatherings in Esophagology: Innovations and Future Directions in the Diagnosis and Management of Reflux Disease. [PDF]

Ann N Y Acad Sci
Cable J, Giuli R, Fox MR, Rosen RL, Valdovinos-García LR, Siboni S, Clarke JO, Johnston N, Samuels TL, Scarpignato C, Stein EM, Fass R, Remes-Troches JM, Khan A, Rahman AK, Lynch K, Jodorkovsky D, Vela MF, Vandenberg A, Kuo B, Ergun P, Jirapinyo SP, Asti E, Tolone S, Sheu EG, Salvador R, Sozzi M, Husain IA, Wu JC, Hobson A, Sharma NS, Lo WK, Duncan DR, Gyawali CP, Chan W, Sifrim D, Savarino E, de Bortoli N, Rogers BD.   +38 more
europepmc   +1 more source

Association Between Halitosis Diagnosed by a Questionnaire and Halimeter and Symptoms of Gastroesophageal Reflux Disease

, 2014
Hyo‐Jung Lee, Hee Man Kim, Nayoung Kim, Jane C Oh, Hyun Jin Jo, Jung-Tae Lee, Hee-Yung Chang, Na-Hee Chang, Soyeon Ahn, Jeong-Yun Lee   +9 more
openalex   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Investigation Into the Dynamics of the Cupula in the Vestibular Organ of Adult Zebrafish Using Metabolic Glycoengineering

Angewandte Chemie, EarlyView.
The cupula is a membrane within the vestibular organ that senses rotatory accelerations of the head. Metabolic glycoengineering in combination with bioorthogonal labeling demonstrates that in adult zebrafish – being a model for the human inner ear – this membrane is constantly renewed.
Hans Scherer, Andrea Jüngst, Verena F. Schöwe, Anne‐Katrin Gronewald, Valentin Wittmann   +4 more
wiley   +2 more sources