Results 181 to 190 of about 1,448,973 (364)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

First Complete Morphological Description of Schistosoma Reflexum in a Llama. [PDF]

Vet Med Sci
Luginbühl C, Hiller LA, Van der Vekens E, Weber BA, Drögemüller C, Zanolari P, Gurtner C, Jacinto J.   +7 more
europepmc   +1 more source

Congenital Hypotrichosis in a female Rottweiler [PDF]

, 1993
Ihrke, P. J., Mueller, Ralf S., Stannard, A. A.   +2 more
core   +1 more source

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ‐line de novo mutation [PDF]

, 2015
María del Mar Mañú‐Pereira, Eva González‐Roca, Wouter W. van Solinge, Esther Llaudet‐Planas, Julián Sevilla, Laura Montllor, Anna Mensa‐Vilaró, Hans Kristian Ploos van Amstel, Richard van Wijk, Joan‐Lluís Vives Corrons   +9 more
openalex   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

A Rare Case of Small Bowel Volvulus with Chylous Ascites Presumed to Be Caused by Multiple Congenital Adhesions in a Virgin Abdomen: A Case Report and Literature Review. [PDF]

Surg Case Rep
Omameuda T, Miki A, Takami M, Ogihara K, Tahara M, Kitabayashi H, Shiozawa M, Koizumi M.   +7 more
europepmc   +1 more source

A Unique Case of Inflatable Penile Prosthesis (IPP) Implantation and Mesh Phalloplasty in a Patient Born with Congenital Fusiform Megalourethra

, 2023
Alfredo Berrettini, Irene Paraboschi, Massimo Di Grazia, Michele Gnech, Guglielmo Mantica, Dario Guido Minoli, Erika Adalgisa De Marco, Gianantonio Manzoni, Marco Capece, Alessandro Palmieri, David Ralph, Vincenzo Mirone   +11 more
openalex   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Congenital malformation risk following prenatal antipsychotic exposure: a systematic safety surveillance approach. [PDF]

BMJ Ment Health
Straub L, Wang SV, Hernandez-Diaz S, Bateman BT, Vine SM, Russo M, Zhu Y, Cohen L, Cesta CE, Gray KJ, Huybrechts KF.   +10 more
europepmc   +1 more source

Congenital scoliosis secondary to hemivertebrae

, 2008
Frank Gaillard
openalex   +1 more source