Results 101 to 110 of about 1,312,947 (193)

Knockdown of mitotically associated long non‐coding RNA dysregulates endothelial functions, transcriptome and proteome

The Journal of Physiology, EarlyView.
Abstract figure legend Downregulation of mitotically associated long non‐coding RNA (MANCR) disturbs transcriptome and proteome in endothelial cells, possibly leading to endothelial and vascular dysfunction in preeclampsia. Abstract Preeclampsia (PE) is a hypertensive disorder during pregnancy, which is characterized by a wide spectrum of endothelial ...
Si‐Yan Zhang, Chi Zhou, Jing Zheng
wiley   +1 more source

Late presentation of cystic adenomatoid malformation type 4 of lung in an asymptomatic child

, 2008
Congenital cystic adenomatoid malformation of lung is an uncommon embryonic developmental anomaly usually diagnosed perinatally. Rarely the presentation is delayed until childhood and adulthood.
ÖZER, ERDENER, KARAMAN, ÖZKAN, ATEŞ, OĞUZ, Ölmez, Duygu, Güneş, DİLEK, Akgür, Feza, Babayiǧit, Arzu, UZUNER, NEVİN   +7 more
core  

sox17 Mutagenesis Reveals Compounding Effects ofMaternal and Zygotic Contribution on Microglia Abundance

Glia, Volume 75, Issue 1, January 2027.
sox17 is a maternal effect gene impacting microglia and microglia precursor abundance. sox17 mRNA injection timed to maternal contribution rescues abundance. A CRISPR screen reveals f11r.1, gas6, and mpp1 also regulate microglia abundance. ABSTRACT Embryonic development is shaped by maternal and zygotic factors but how the interplay between these ...
Camden A. Spring, John Dennen, Dailin Gan, Jun Li, Cody J. Smith   +4 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, Volume 68, Issue 12, Page 1729-1739, December 2026.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Spontaneous pneumothorax as the initial presentation of congenital pulmonary airway malformation in a teenager without prior symptoms

Radiology Case Reports
Congenital Pulmonary Airway Malformation (CPAM) is a rare developmental lung anomaly, usually diagnosed prenatally but often asymptomatic until early childhood.
David Hernandez, BS, Gordon S. Wong, MD, Russell Hutson, MD, Shuman Liu, MD, W. Dean Wallace, MD, Susan Harlan, MD, Soni Chawla, MD   +6 more
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese, Grixti, Charles J., Chircop, Marcelle, Grech, Victor E.   +3 more
core  

Suspected Pentalogy of Cantrell With Ectopia Cordis in a Newborn: Diagnostic and Management Challenges in a Low Resource Setting in Northern Tanzania

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Suspected Pentalogy of Cantrell with ectopia cordis carries very high neonatal mortality. In low‐resource settings, absent antenatal ultrasound and limited access to imaging and pediatric cardiac surgery reduce diagnostic certainty and survival.
Tabitha Mshanga, Lightness Chuwa, Kajal Jethwa, Ronald Mbwasi   +3 more
wiley   +1 more source

GATA2 Deficiency Presenting With a WHIM‐Like Phenotype and Subsequent Development of Monosomy 7‐Associated Myelodysplastic Syndrome in an Adolescent Female: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to MDS.
Aziz Eghbali, Meshkat Poortavakol, Hamideh Sadat Mirmohammadi   +2 more
wiley   +1 more source

Bilateral microform cleft lip [PDF]

, 2006
Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a
Attard Montalto, Simon, Grech, Victor E., Pace, David   +2 more
core  

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 965-976, November 2026.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source