Results 91 to 100 of about 16,709 (258)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Legal support of the rights of the child and the gestational courier in the context of the fourth generation of human rights in Ukraine

Revista Jurídica Portucalense
The permissiveness of Ukrainian legislation toward surrogate motherhood makes Ukraine one of the world’s centers for surrogacy. The paper discusses the solution to the issue of ensuring the implementation of human reproductive rights in the ...
Viktoria STRELNYK, Natalia HRES, Tetiana CHURILOVA   +2 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Surrogate mothers. [PDF]

British medical journal (Clinical research ed.), 1985
openaire   +3 more sources

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

Guest Transition Metals in Host Keplerate Nanocapsules as Supramolecular Inorganic Functional Mimics of Monooxygenase Enzymes

Angewandte Chemie, EarlyView.
A Keplerate, an inorganic, porous buckyball was used as a host for copper metal cations ligated by histidine surrogates. Prepared by a simple assembly technique, the guest–host complex was used as a primitive biomimetic model of a monooxygenase enzyme complex, where C─H bonds were electrocatalytically hydroxylated by oxygen under reducing conditions ...
Eynat Haviv, Hagai Cohen, Ayelet Vilan, Liat Avram, Ronny Neumann   +4 more
wiley   +2 more sources

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Children rights in gamete donation

Payesh, 2007
Objective(s): Children as members of the human community have certain rights, and all schools of law (religious or conventional) recognize these rights. So the way a child is born must not be held as a reason to deprive him/her of part of his/her rights.
Merghati T.
doaj  

Participatory Policy Development: Reflections on Designing the Strong Roots for Our Futures Program in Victoria

Australian Journal of Social Issues, EarlyView.
ABSTRACT In this paper, we trace the journey to create the Strong Roots for our Futures Program, a government program to resource and support Traditional Owners to undertake a range of activities in areas where no state recognition existed. We provide a background to state recognition in Victoria before considering the program design, leading to an ...
Nell Reidy, Bhiamie Williamson, Jesse Williams   +2 more
wiley   +1 more source