Results 171 to 180 of about 63,111 (319)

The influence of methylphenidate on auditory brainstem response patients with attention deficit hyperactivity disorder; an exploratory study. [PDF]

J Public Health Res, 2023
Claesdotter-Knutsson E, Källstrand J, Niklasson K, Andersson M, Lindvall M.   +4 more
europepmc   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Auditory Brainstem Response in Autistic Children: Implications for Sensory Processing. [PDF]

Hearing Balance Commun, 2023
Cardon G, Cate M, Cordingley S, Bown B.
europepmc   +1 more source

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Application of chirp stimuli in Kalman-weighted auditory brainstem response testing. [PDF]

Sci Prog
Yang J, Wang S, Zhang Z, Ru X, Ni D, Gao Z, Jiang H, Sun W, Shang Y.   +8 more
europepmc   +1 more source

Comparison of auditory brainstem response and electrocochleography to assess the coupling efficiency of active middle ear implants. [PDF]

Front Neurol, 2023
Gawliczek T, Mantokoudis G, Anschuetz L, Caversaccio MD, Weder S.   +4 more
europepmc   +1 more source

GATA Transcription Factors: A Cross‐Road for Erythropoiesis, Neurodevelopment, and Synucleinopathies

Developmental Neurobiology, Volume 85, Issue 3, July 2025.
ABSTRACT Alpha‐synuclein (α‐syn), a 140 amino acid protein, is abundantly expressed in the central nervous system (CNS) and in the erythrocytes, playing a pivotal role in the pathogenesis of Parkinson's disease (PD) and other synucleinopathies.
Francesco Bellomi, Claudia Caturano, Viola Velardi, Romina Mancinelli, Simone Carotti, Giorgio Vivacqua, Francesca Arciprete, Maria Zingariello   +7 more
wiley   +1 more source

The Auditory Brainstem Response Diagnoses Alzheimer-Like Disease in the 5xFAD Mouse Model. [PDF]

eNeuro
Na D, Yang Y, Xie L, Piekna-Przybylska D, Bunn D, Shamambo M, White P.   +6 more
europepmc   +1 more source

A Comparison of the Human Voice ("Baah") Test and the Automated Auditory Brainstem Response in Detecting Neonates with Hearing Loss in a Community Setting. [PDF]

Acta Med Philipp, 2023
Chiong ANE, Labra PJP, Chiong CM, Evangelista GF, Grullo PER.   +4 more
europepmc   +1 more source

A study on assessment of the auditory brainstem response. 3.

, 1989
Kimie Aoki
openalex   +2 more sources