Results 101 to 110 of about 55,696 (242)

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Kinetochore size correlates with chromosome size in Star of Bethlehem (Ornithogalum kochii Parl., Asparagaceae)

Plant Biology, EarlyView.
Cytogenetic quantification of KNL1‐labelled kinetochores in Ornithogalum kochii reveals a significant positive scaling relationship between chromosome size and kinetochore size, demonstrating that chromosome–kinetochore scaling operates even across moderate intra‐karyotype size variation.
K. Panda, M. Hroneš, F. Zedek
wiley   +1 more source

Antenatal Screening for Down Syndrome (DS) and other Fetal Aneuploidy

, 2001
policy ...
Human Genetics Society of Australasia [HGSA]; Royal Australian and New Zealand College of Obstetricians and Gynaecologists
core  

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, EarlyView.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

International Journal of Cancer, Volume 159, Issue 2, Page 410-422, 15 July 2026.
What's new? Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic precursor to multiple myeloma, sharing substantial genetic features with overt malignancy. Given evidence implicating autophagy in myeloma risk, this study examined whether genetic variations in autophagy‐related genes influence MGUS susceptibility.
José Manuel Sánchez‐Maldonado, Angelica Macauda, Antonio José Cabrera‐Serrano, Hauke Thomsen, Murat Güler, Rob Ter Horst, Bethany van Guelpen, Pavel Vodicka, Stefano Landi, Subhayan Chattopadhyay, Pelin Ünal, Lucía Ruiz‐Durán, Delphine Casabonne, Hartmut Goldschmidt, Istemi Serin, María Carretero‐Fernández, Elena Cabezudo, Fernando Reyes‐Zurita, Aaron D. Norman, Ramón García‐Sanz, Gabriele Capurso, Per Hoffmann, Ulrika Pettersson‐Kymmer, Francisco Jiménez‐Romera, S. Vincent Rajkumar, Niels Weinhold, Ludmila Vodickova, Christian Langer, Angelika Stein, Abdulkadir Karismaz, Victor Moreno, Markus M. Nöthen, Karl‐Heinz Jöckel, Francesca Tavano, Joaquín Martínez‐López, Shaji K. Kumar, Juan Francisco Gutiérrez‐Bautista, Daniela Basso, Florentin Späth, Yolanda Benavente, Michelle A. T. Hildebrandt, Börge Schmidt, Tereza Sevcikova, Rui Manuel Vieira Reis, Yang Li, Miguel Ángel López‐Nevot, Mihai G. Netea, Daniele Campa, Alyssa Clay‐Gilmour, Susan L Slager, Kari Hemminki, Celine M Vachon, Asta Försti, Federico Canzian, Juan Sainz   +54 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Parental behaviors supporting child development in mothers of children with sex chromosome trisomies

Infant Mental Health Journal: Infancy and Early Childhood, Volume 47, Issue 4, July 2026.
Abstract Sex chromosome trisomies (SCTs) are genetic conditions caused by the presence of an additional sex chromosome. While recent studies have focused on analyzing the early competencies of children with SCTs, relatively few have investigated aspects of parent‐child interaction.
Laura Cordolcini, Beatrice Riva, Paola Zanchi, Domenica Mastromattei, Paola Francesca Ajmone, Maria Antonella Costantino, Laura Zampini   +6 more
wiley   +1 more source

Non-Invasive Screening of AI-Assisted DNA Aneuploidy Cytology by Image Cytometry for the Early Diagnosis of Malignant Transformation of OPMDs. [PDF]

Int Dent J
Tan YQ, Wang F, Chen XY, Huang XX, Wei XY, Lu R, Chen XJ, Du GF, Wang F, He MJ, Zhang J, Zhou G.   +11 more
europepmc   +1 more source

Lessons from clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†. [PDF]

Biol Reprod
Duke M, Blengini CS, Maddocks S, Aboelenain M, Prorock-Rogers C, Schindler K.   +5 more
europepmc   +1 more source