Results 141 to 150 of about 79,932 (302)

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Editorial: Monogenic vs. Oligogenic Reclassification

Frontiers in Genetics, 2021
Olfa Messaoud, Atanu Kumar Dutta, Mario Reynaldo Cornejo-Olivas, Mario Reynaldo Cornejo-Olivas, Zahurul A. Bhuiyan   +4 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Further Considerations in Childhood-Onset Hypertrophic Cardiomyopathy Genetic Testing

Frontiers in Cardiovascular Medicine, 2021
Michelle M. Monasky, Emanuele Micaglio, Silvia Ignaccolo, Carlo Pappone, Carlo Pappone   +4 more
doaj   +1 more source

Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

Frontiers in Genetics
Sex discordance between cell-free DNA (cfDNA) testing and ultrasound examination is rare but can cause significant patient discomfort and uncertainty.
Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán   +6 more
doaj   +1 more source

Finite simple monogenic entropic quasigroups with quasi-identity

, 2011
In this paper we describe finite simple monogenic entropic quasigroups with quasi-identity.
J. Kaleta, G. Bińczak
core   +1 more source

Pregnancy‐ and lactation‐associated osteoporosis: A position statement of the IAPM, IOF, ECTS, ESCEO, IMS, and EMAS

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Pregnancy‐ and lactation‐associated osteoporosis (PLO) is a syndrome characterized by fragility fractures (most commonly vertebral, often multiple) occurring in late pregnancy or the early postpartum period. This position statement summarizes the current knowledge of PLO, and the recommended procedure for assessment, diagnosis and treatment ...
Peyman Hadji, Apostolos Athanasiadis, Maria‐Luisa Brandi, Marlene Chakhtoura, Manju Chandran, Frank Chervenak, Amos Grünebaum, Irene Lambrinoudaki, Willem F. Lems, Apostolos M. Mamopoulos, Eugene McCloskey, Rossella E. Nappi, Jessica Pepe, Jean‐Yves Reginster, René Rizzoli, Petra Stute, Şansın Tuzun, Amanda J. Vincent, Maria Belen Zanchetta, M. Carola Zillikens, Ioannis Kyvernitakis   +20 more
wiley   +1 more source

Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1

Frontiers in Cell and Developmental Biology
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders caused by heterozygous germline NF1 mutations. NF1 affects many systems, including the skeletal system.
Annabelle Darle, Thibault Mahiet, Déborah Aubin, Déborah Aubin, Déborah Aubin, Manon Doyen, Manon Doyen, Lina El Kassar, Béatrice Parfait, Béatrice Parfait, Gilles Lemaitre, Gilles Lemaitre, Christine Baldeschi, Christine Baldeschi, Jennifer Allouche, Jennifer Allouche, Nathalie Holic, Nathalie Holic   +17 more
doaj   +1 more source

Monogenic plane waves and the W-functional calculus

, 2016
In this paper, we introduce some integral transforms that map slice monogenic functions to monogenic functions. We then show that one of these integral transforms, which is based on the Cauchy formula of slice monogenic functions, is useful to define a ...
Souček, Vladimír, COLOMBO, FABRIZIO, SABADINI, IRENE MARIA, Lávička, Roman   +3 more
core   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source