Results 121 to 130 of about 284,008 (318)

Sex differences in body composition in youth with type 1 diabetes and its predictive value in cardiovascular disease risk assessment

Diabetes/Metabolism Research and Reviews, Volume 39, Issue 1, January 2023., 2023
Abstract Background Women with type 1 diabetes (T1D) are more susceptible than men to cardiovascular disease (CVD). Signs of increased risk may already appear among adolescent girls. Objectives We explored the contribution of body composition to the development of CVD risk factors among youth with T1D.
Avivit Brener, Sandy Hamama, Hagar Interator, Asaf Ben Simon, Irina Laurian, Anna Dorfman, Efrat Chorna, Michal Yackobovitch‐Gavan, Asaf Oren, Ori Eyal, Yael Lebenthal   +10 more
wiley   +1 more source

Working party to discuss nomenclature based on gestational age and birthweight. [PDF]

, 1970
G. A. Neligan, A Ballabriga, Giovanni Bucci, P M Dunn, H Ewerbeck, B Friis-Hansen, Douglas Gairdner, J. Gentz, P Hubinot, P Karlberg, Sweden, G.J. Kloosterman, F. Kubli   +12 more
openalex   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Effects of Gestational Age, Birth Weight, and Hypoxemia on Pharmacokinetics of Amikacin in Serum of Infants [PDF]

, 1977
Martin G. Myers, Robert J. Roberts, Najwa J. Mirhij   +2 more
openalex   +1 more source

A method to investigate muscle target‐specific transcriptional signatures of single motor neurons

Developmental Dynamics, Volume 252, Issue 1, Page 208-219, January 2023., 2023
Abstract Background Motor neurons in the vertebrate spinal cord have long served as a paradigm to study the transcriptional logic of cell type specification and differentiation. At limb levels, pool‐specific transcriptional signatures first restrict innervation to only one particular muscle in the periphery, and get refined, once muscle connection has ...
Bianka Berki, Fabio Sacher, Antoine Fages, Patrick Tschopp, Maëva Luxey   +4 more
wiley   +1 more source

Assessment of gestational age in twins. [PDF]

, 1977
David Woods, A. F. Malan
openalex   +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

Changes in distribution of gestational age and birth weight among firstborn infants of Cardiff residents. [PDF]

, 1977
Robert G. Newcombe, Iain Chalmers
openalex   +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

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source