Results 321 to 330 of about 355,187 (399)

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

Impact of the COVID-19 Pandemic on the Everyday Life and Healthcare of Patients with Congenital Heart Defects: Insights from Pandemic Onset to One Year Later. [PDF]

J Clin Med
Schütte E, Nasri SO, Ehmann AL, Semmler J, Berger F, Bauer UMM, Schmitt K, Tremblay C, Remmele J, Orwat S, Diller GP, Pfitzer C, Helm PC.   +12 more
europepmc   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Congenital heart defects in children born after assisted reproductive technology: a CoNARTaS study. [PDF]

Eur Heart J
Sargisian N, Petzold M, Furenäs E, Gissler M, Spangmose AL, Malchau Lauesgaard S, Opdahl S, Pinborg A, Henningsen AA, Westvik-Johari K, Rönö K, Bergh C, Wennerholm UB.   +12 more
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

Clinical Obesity, EarlyView.
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton, Sarah Gentry, Helen M. Parretti   +2 more
wiley   +1 more source

Organoid Models to Study Human Infectious Diseases

Cell Proliferation, EarlyView.
Our manuscript reviews the role of organoids as models for studying human infectious diseases, highlighting their irreplaceable contributions to drug testing and vaccine development for significant infectious diseases including HIV, ZIKV, SARS‐CoV‐2 and MPXV.
Sijing Zhu, Dan Chen, Xinzhi Yang, Liuliu Yang, Yuling Han   +4 more
wiley   +1 more source

Heterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report. [PDF]

J Med Case Rep
Al-Bitar A, Zalzaleh MA, Al Helbawi H, Morteza MH.   +3 more
europepmc   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 more
wiley   +1 more source

Congenital heart defects and consanguinity: An analysis of the Sidra cardiac registry data in Qatar. [PDF]

Int J Cardiol Congenit Heart Dis
Manyama M, Al Sayegh D, Al-Sulaiti K, Almasri M, Sharma O, El Jerbi A, Al-Riyami Z, Sarada PK, Gupta S, Al-Saloos H, Al-Shafai KN.   +10 more
europepmc   +1 more source