Results 141 to 150 of about 1,053 (245)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Prebreeding studies of near-isogenic spring bread wheat lines, differing by presence or absence of the 3R(3D) chromosomal substitution from the triticale cultivar Satu. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Sibikeev SN, Adonina IG, Druzhin AE, Fitileva ZE, Baranova OA.   +4 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Hepatocellular carcinoma in survivors after Fontan operation: a case-control study. [PDF]

Eur Heart J
Kim YY, Lluri G, Haeffele C, Daugherty T, Krasuski RA, Serfas JD, de Freitas RA, Porlier A, Lubert AM, Wu FM, Valente AM, Krieger EV, Buber J, Rodriguez FH, Gaignard S, Saraf A, Hindes M, Earing MG, Lewis MJ, Rosenbaum MS, Zaidi AN, Hopkins K, Bradley EA, Cedars AM, Ko JL, Franklin WJ, Frederickson A, Ginde S, Grewal J, Nyman A, Min J, Schluger C, Rand E, Rosenthal BE, Hilscher M, Rychik J, Hoteit MA.   +36 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Fibrosing Mediastinitis Caused by Histoplasmosis in an Adolescent. [PDF]

JACC Case Rep
Ganigara M, Flores JJ, Slivnick J, Landeras L, Hibino N, Hendrickson B, Husain A, Vricella L, Earing MG.   +8 more
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

Suppressed Plastic Anisotropy via Sigma-Phase Precipitation in CoCrFeMnNi High-Entropy Alloys. [PDF]

Materials (Basel)
Kim TH, Jung J, Bae JW.
europepmc   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source