Results 241 to 250 of about 515,000 (271)

In Vitro Gene Expression Profiling of Quantum Molecular Resonance Effects on Human Endometrium Models: A Preliminary Study. [PDF]

Genes (Basel)
Grassi A, Rocca MS, Noventa M, Pozzato G, Pozzato A, Scioscia M, Andrisani A, Pontrelli G, Foresta C, De Toni L.   +9 more
europepmc   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Dynamic multimodal information encryption combining programmable structural coloration and switchable circularly polarized luminescence. [PDF]

Nat Commun
Feng Z, Li J, Yang P, Xu X, Wang D, Li J, Zhang C, Li J, Zhang H, Zou G, Chen X.   +10 more
europepmc   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Discovery of RNA Biomarkers for Prostate Cancer Using Cross-Platform Transcriptomics. [PDF]

Int J Mol Sci
Visser WCH, de Jong H, Smit FP, Shrivastava J, Poole JC, Leenders WPJ, Melchers WJG, Mulders PFA, Schalken JA.   +8 more
europepmc   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Comparison of dermal and eschar fibroblasts in full skin equivalents. [PDF]

Wound Repair Regen
Kutluoğlu GC, Vlig M, Elgersma A, Boekema BKHL, Daamen WF, Doberenz C, Manikowski D.   +6 more
europepmc   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Predicting Tolerance to Cow's Milk Allergy in Children Using IgE and IgG4 Peptide Binding Profiles. [PDF]

Cells
Fernández-Lozano C, Olmos-Piñero S, Sánchez-Ruano L, Terrados S, Diéguez MDC, Fernández-Rivas M, Vlaicu C, Cerecedo I, Gonzalo-Fernandez A, de la Hoz B, Martínez-Botas J.   +10 more
europepmc   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source