Results 221 to 230 of about 3,162,594 (310)

Artificial Womb Technology Cannot End the Abortion Debate for the Prolife Catholic. [PDF]

Linacre Q
Ramirez NM.
europepmc   +1 more source

Mathematical Models of Mother/Child Attachment [PDF]

, 2006
Buono, Luciano, Chau, Roger, Lewis, Greg, Madras, Neal, Pugh, Mary, Rossi, Louis, Witelski, Thomas   +6 more
core  

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, EarlyView.
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

Community awareness, perceptions, and management practices related to pre-eclampsia: An exploratory qualitative study in Mbale City, Eastern Uganda. [PDF]

PLoS One
Kagoya EK, Nsubuga AG, Atuhairwe I, Nakattudde P, Asiimwe C, Gidudu C, Ajalo E, Waako P, Wandabwa J, Arach L, Atwakire GM, Musaba M, Kibuuka R, Nyangoma F, Mbanago S, Mugabi J, Chemutai V, Atugonza J, Ewaala BJ, Nakawuka B, Okello F, Mugahi R, Akello J, Twineamatsiko A, Adroma M, Mugabe K.   +25 more
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Synergistic Effects of Early Psychosocial Factors and Polygenic Risk for Smoking: a Cross-Sectional Analysis of a Sample of Older Adults in the United States. [PDF]

Dev Psychobiol
Dyer WG, Lee SH, Wilding H, Sutara B, Lee HH.   +4 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Examining the association between fetal HLA-C, maternal KIR haplotypes and birth weight. [PDF]

PLoS Genet
Decina CS, Warrington NM, Beaumont RN, Bian B, Brito Nunes C, Wang G, Lowe WL, Squire D, Vukcevic D, Leslie S, Freathy RM, Evans DM.   +11 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

A shift in brain functional systems during mother-child neural synchrony marks children's cognitive development. [PDF]

Dev Cogn Neurosci
Zhao H, Zhai Y, He X, Wang Z, Lu C.
europepmc   +1 more source