Results 151 to 160 of about 108,266 (269)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Twig-Like Middle Cerebral Artery : Acquired Lesion Rather than Congenital Anomaly. [PDF]

J Korean Neurosurg Soc
Park YK, Yoon BH, Hwang EH, Kim JH, Kang HI, Won YD, Cheong JW.   +6 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Annular Pancreas in a 13-Year-Old Boy: A Delayed Clinical Presentation of a Congenital Anomaly Highlighting Challenges of Diagnosis. [PDF]

Int Med Case Rep J
Mohamed SS, Mead AO, Nur AO.
europepmc   +1 more source

Percutaneous Closure of Patent Foramen Ovale in a Patient With Incomplete Cor Triatriatum Sinister: A Case Report

Journal of Clinical Ultrasound, EarlyView.
We present the case of a 55‐year‐old male who experienced a cryptogenic ischemic stroke, likely due to a patent foramen ovale (PFO) in the setting of an incomplete cor triatriatum sinister (CTS) and a 30 mm GORE Cardioform Septal Occluder was successfully implanted.
Anastasios Apostolos, Maria Drakopoulou, Elias Tolis, Georgios Trantalis, Ioannis Kachrimanidis, Panayotis Vlachakis, Konstantinos Tsioufis, Konstantinos Toutouzas, Konstantina Aggeli   +8 more
wiley   +1 more source

Systematic method for classifying multiple congenital anomaly cases in electronic health records. [PDF]

Genet Med
Brokamp E, Miller-Fleming T, Scalici A, Hooker G, Hamid R, Velez Edwards D, Chung WK, Luo Y, Kiryluk K, Limidi NA, Khankari NK, Cox NJ, Bastarache L, Shuey MM.   +13 more
europepmc   +1 more source

Prenatal exposure to antihypertensive medication: A systematic review of neurodevelopmental and educational outcomes

JCPP Advances, EarlyView.
This systematic review investigated the association of prenatal exposure to antihypertensive medication with longer‐term poor neurodevelopmental outcomes by evaluating the findings from existing literature. We undertook a systematic review of previous studies looking specifically at neurodevelopmental outcomes in children.
Shrifah Alkhalaf, Sarjit Singh, Jill P. Pell, Scott M. Nelson, Daniel F. Mackay, Michael Fleming   +5 more
wiley   +1 more source

Large bronchogenic cyst of stomach, a case report of a rare congenital anomaly as an incidental finding during bariatric surgery. [PDF]

Int J Surg Case Rep
Karimov M, Haghighat N, Sisakht TM, Moeinvaziri N.   +3 more
europepmc   +1 more source

A Combination of Congenital Anomalies [PDF]

BMJ, 1952
openaire   +2 more sources

Genetics in Dental Education: A Cross‐Sectional Study of Instruction and Clinical Integration

Journal of Dental Education, EarlyView.
ABSTRACT Purpose Advances in genomic science and biomedical technology have positioned dentists as key contributors to evidence‐based care, including recognizing oral and craniofacial conditions that may warrant referral or interprofessional evaluation.
Tiffany Saba, Emily Hansen‐Kiss, Walid D. Fakhouri, Tala Hasbini, Richard Halpin, Anita Joy‐Thomas   +5 more
wiley   +1 more source