Results 171 to 180 of about 36,611 (218)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Genetic insights into congenital heart disease: Prevalence, aetiology and clinical implications

Clinical and Translational Discovery, Volume 5, Issue 5, October 2025.
The review synthesizes current knowledge on the genetic underpinnings of congenital heart disease, highlighting how modern genomic technologies enhance understanding of CHD pathogenesis and enable earlier diagnosis. We demonstrate how these genetic insights translate to improved clinical care, risk assessment, and genetic counseling for affected ...
Yuan Yuan, Yi Jia, Shasha Peng, Shuru Zhao, Kang Dong, Yuruo Hu, Zicheng Zhao, Xiaofei Jiang, Zhe Zhang   +8 more
wiley   +1 more source

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. [PDF]

HGG Adv
Alankarage D, Leshchynska I, Portelli S, Sipka A, Blue GM, O'Reilly V, Das D, Rath EM, Enriquez A, Troup M, Fine M, Poplawski N, Verlee M, Humphreys DT, Harvey RP, Chapman G, Kirk EP, Winlaw DS, Callewaert B, Chung WK, Ascher D, Giannoulatou E, Dunwoodie SL, Australian Genomics Cardiovascular Genomics Disorders Flagship, Congenital Heart Disease Synergy Study Group.   +24 more
europepmc   +1 more source

Functional Pulmonary Imaging

Journal of Magnetic Resonance Imaging, Volume 62, Issue 4, Page 986-1008, October 2025.
ABSTRACT The aging of the world population gave rise to an increased prevalence of many lung diseases, with chronic obstructive pulmonary disease now ranking as the third‐leading cause of death according to the World Health Organization. To diagnose lung disease, a thorough assessment of lung function is essential since it may reveal unique signatures ...
Agilo L. Kern, Filip Klimeš, Andreas Voskrebenzev, Hoen‐Oh Shin, Jens Vogel‐Claussen   +4 more
wiley   +1 more source

Optimized retrograde approach and device selection with Konar-MF™ for pediatric transcatheter ventricular septal defect closure. [PDF]

Turk Gogus Kalp Damar Cerrahisi Derg
Vuran G, Yılmazer MM, Murat M, Karahan C, Bilen M, Karaçelik M, Meşe T.   +6 more
europepmc   +1 more source

Deep learning–based prospective slice tracking for continuous catheter visualization during MRI‐guided cardiac catheterization

Magnetic Resonance in Medicine, Volume 94, Issue 4, Page 1626-1634, October 2025.
Abstract Purpose This proof‐of‐concept study introduces a novel, deep learning–based, parameter‐free, automatic slice‐tracking technique for continuous catheter tracking and visualization during MR‐guided cardiac catheterization. Methods The proposed sequence includes Calibration and Runtime modes.
Alexander Paul Neofytou, Grzegorz Kowalik, Rohini Vidya Shankar, Karl Kunze, Tracy Moon, Nina Mellor, Radhouene Neji, Reza Razavi, Kuberan Pushparajah, Sébastien Roujol   +9 more
wiley   +1 more source

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities. [PDF]

Front Genet
Guo Y, Xin X, Zhou L, Huang J.
europepmc   +1 more source

Blood Pressure Reference Values in Infants Under 1 Year of Age. Oscillometric and Auscultatory Parameters

Acta Paediatrica, Volume 114, Issue 10, Page 2691-2696, October 2025.
ABSTRACT Aim Blood pressure values in infants are an understudied topic. It is a complex problem in routine care. We only have reference charts obtained using oscillometric devices, which are not up to date and were measured more than 30 years ago. The usual reference standard for blood pressure is the values obtained by auscultation, and there are no ...
Enrique Blanca‐Jover, Andrea Villanueva‐Garcia, Francisco Contreras‐Chova, Antonio Jerez‐Calero, Jose Uberos‐Fernandez   +4 more
wiley   +1 more source

Challenges in prenatal care of ectopic cordis: Case series and literature review. [PDF]

Radiol Case Rep
Martadiansyah A, Lestari PM, Bernolian N, Mirani P, Sutrisno MAF, Andrina H, Siregar IHC, Kardiana E, Stevanny B.   +8 more
europepmc   +1 more source

A micro‐CT approach to the anatomy of Pectinariidae Quatrefages, 1866 (Annelida)

Acta Zoologica, Volume 106, Issue 4, Page 463-484, October 2025.
Abstract The Micro‐computed X‐ray tomography (micro‐CT) technique is used to examine the external and internal anatomy of four species of Pectinariidae (Annelida: Terebellida): Amphictene auricoma, Cistenides granulata, Cistenides hyperborea and Lagis sp., from material collected off Iceland and NW Spain.
Julio Parapar, María Barroso, María Candás, Juan Moreira   +3 more
wiley   +1 more source