Results 101 to 110 of about 209,608 (344)

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

Prenatal stress induced depressive‐like behavior and region dependently high CRP level in offspring rats

Brain and Behavior, 2021
Introduction To explore the changes in C‐reactive protein (CRP) level in different regions of one old offspring rats exposed to prenatal stress (PS). Methods The rat model was constructed with prenatal restraint stress on pregnant dams on days 14–20 of ...
Shaoning Li, Huifang Zhang, Xueyun Gao, Huimei Huang, Wei He, Huiping Zhang, Hongli Sun   +6 more
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Prenatal maternal salivary hormones and timing of tooth eruption in early childhood: a prospective birth cohort study

Frontiers in Oral Health
BackgroundAlthough the mechanisms underlying tooth eruption are not fully understood, the prenatal maternal milieu, particularly stress exposures, appears to play an important role in dental development.
Ying Meng, Ruqian Yang, Nora Alomeir, Thomas G. O’Connor, Jerod M. Rasmussen, Felicitas B. Bidlack, Jin Xiao   +6 more
doaj   +1 more source

Pre-reproductive parental enriching experiences influence progeny’s developmental trajectories [PDF]

, 2018
While the positive effects of environmental enrichment (EE) applied after weaning, in adulthood, during aging, or even in the presence of brain damage have been widely described, the transgenerational effects of pre-reproductive EE have been less ...
Berretta, Erica, Caporali, Paola, Cutuli, Debora, Gelfo, Francesca, Laricchiuta, Daniela, Petrosini, Laura   +5 more
core   +1 more source

The Impact of Maternal Prenatal Stress Related to the COVID-19 Pandemic during the First 1000 Days: A Historical Perspective [PDF]

, 2022
Sam Schoenmakers, E. J. T. Verweij, Roseriet Beijers, Hilmar H. Bijma, Jasper V. Been, Régine P.M. Steegers‐Theunissen, Marion Koopmans, Irwin Reiss, Eric A.P. Steegers   +8 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

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Urinary Phthalate Metabolites and Biomarkers of Oxidative Stress in a Mexican-American Cohort: Variability in Early and Late Pregnancy. [PDF]

, 2016
People are exposed to phthalates through their wide use as plasticizers and in personal care products. Many phthalates are endocrine disruptors and have been associated with adverse health outcomes.
Bradman, Asa, Eskenazi, Brenda, Holland, Nina, Huen, Karen, Nguyen, Brian, Street, Kelly, Tran, Vy   +6 more
core   +3 more sources

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source