Results 211 to 220 of about 250,617 (304)

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Deep sternal wound infection - latissimus dorsi flap is a reliable option for reconstruction of the thoracic wall. [PDF]

BMC Surg, 2019
Spindler N, Kade S, Spiegl U, Misfeld M, Josten C, Mohr FW, Borger M, Langer S.   +7 more
europepmc   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

Commentator Discussion: Potential advantage of magnetic resonance imaging in detecting thoracic wall infiltration in pleural mesothelioma. A retrospective single-center analysis. [PDF]

JTCVS Open
europepmc   +1 more source

Revisiting the musculocutaneous external oblique flap as a versatile alternative in large thoracic wall defects. [PDF]

Surg Case Rep, 2019
Matera D, Huynh R, Hanley T, Behnam AB.
europepmc   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Delayed thoracic wall bleeding after minimally invasive mitral valve repair. [PDF]

J Surg Case Rep, 2019
Kamada K, Kitahara H, Koichi Y, Wakabayashi N, Ise H, Tanaka C, Nakanishi S, Ishikawa N, Kamiya H.   +8 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

NEOPLASMS OF THE BONY THORACIC WALL

Annals of Surgery, 1942
G N, Sommer, R C, Major
openaire   +3 more sources

Prenatal Magnetic Resonance Imaging Assessment of Fetal Airway Dimensions: Establishing an Anthropometric Database

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetal airway anomalies can severely impair breathing at birth, potentially causing brain injury or death. Thus, early prenatal diagnosis is essential. While MRI is the most effective imaging modality for evaluating fetal airways, normative MRI data remain scarce.
Juliette Houssin, Ahmed El Ahmadi, Robinson Gravier‐Dumonceau, Richard Nicollas, Eric Moreddu   +4 more
wiley   +1 more source