Results 201 to 210 of about 82,236 (297)

Integration of sarcopenia screening into radiotherapy planning: Validation of a time-efficient SMI measurement method using MIM software in prostate cancer. [PDF]

J Appl Clin Med Phys
De Bruyn P, Coquelet N, Ferreira P, Michel M, Descamps T, Van den Begin R, Van Gestel D, Preiser JC.   +7 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of FTO‐Related Developmental Disorder Caused by Biallelic Variants in FTO

Clinical Genetics, EarlyView.
We report 13 additional individuals from nine families, evaluating in detail the genotypic and phenotypic spectrum in comparison with the previously reported individuals. Our work substantially broadens the phenotypic spectrum, ranging from the severe and lethal to a milder developmental phenotype.
Radhakrishnan Periyasamy, Gopika Kanippayyur Narayanan, Dhanya Lakshmi Narayanan, Nisha Mohan, Sheela Nampoothiri, Dhanya Yesodharan, Mathilde Nizon, Leïla Ghesh, Meenakshi Bhat, Monisha Morris, Sarah Ghazali, Mahmoud Almutadares, Deema Aljeaid, Shahyan Siddiqui, Anju Shukla, Isabel Filges   +15 more
wiley   +1 more source

Second Transapical Mitral Valve-in-Valve With a Stented Bovine Jugular Venous Valve in Shone's Complex. [PDF]

JACC Case Rep
Hassan AA, McGuinness J, Kenny D.
europepmc   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis

Clinical Genetics, EarlyView.
We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan, Fabiola Ceroni, Samuel J. H. Clokie, Nicole Motton Hill, Manoj Parulekar, Karl Johnson, Lidiya V. Talbot, Dorine A. Bax, Nicola K. Ragge   +8 more
wiley   +1 more source

MIM moves on

Metal Powder Report, 2002
openaire   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants. [PDF]

HGG Adv
David D, Fino J, Rodrigues M, Nunes SS, Gonçalves R, Freixo JP, Moldovan O, Carvalho I, Oliva-Teles N, Soares AR, Haltrich I, Yu M, Dong Z, Venâncio M, Morton CC.   +14 more
europepmc   +1 more source

Conserved dimerization architecture in C‐type lectins from virus‐vector mosquitoes

The FEBS Journal, EarlyView.
C‐type lectins (CTLs) are involved in the detection of viral/microbial carbohydrates. We studied a family of soluble CTLs in the mosquito Aedes aegypti, which acts as a vector for viruses like dengue and Zika. Using crystallography, biophysics, and structure prediction approaches, we found that these proteins consistently pair together in the same ...
Mattia Bertinelli, Rupesh Balaji Jayachandran, Jack Whitehead, Cédric Leyrat, Annabel v. Clanner, Guido C Paesen, Max Renner   +6 more
wiley   +1 more source

Influence of Lipomannan and Lipoarabinomannan Concentration on Mycobacterial Inner Membranes Characterized by All-Atom Simulations. [PDF]

J Chem Inf Model
Lee H, Rygh N, Chavent M, Im W.
europepmc   +1 more source