Results 201 to 210 of about 2,016,730 (252)

Cortical alterations associated with executive function deficits in youth with a congenital heart defect. [PDF]

Imaging Neurosci (Camb)
Abboud F, Easson K, Ehrler M, Ziolkowski J, Rohlicek CV, Latal B, Saint-Martin C, Gilbert G, Greutmann M, Devenyi GA, Tuura RO, Chakravarty MM, Brossard-Racine M.   +12 more
europepmc   +1 more source

The Health, Wellbeing and Health Service Use of Women Attempting or Planning Pregnancy: A Nationwide Cross‐Sectional Survey of Australian Women

Birth, EarlyView.
ABSTRACT Background Health and wellbeing during the preconception period influence maternal and child health outcomes. We describe the sociodemographic and health characteristics of Australian women currently attempting pregnancy or planning to conceive in the next 12 months, compared with other women of reproductive age, to identify opportunities for ...
Amie Steel, Danielle Schoenaker, Joanna Harnett, Jon Adams   +3 more
wiley   +1 more source

The role of primary cilia in congenital heart defect-associated neurological impairments. [PDF]

Front Genet
Sarić N, Ishibashi N.
europepmc   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Mediation role of health behaviours in the relation between mental resilience and cardiovascular risk in young adults with a diagnosed congenital heart defect. [PDF]

BMC Public Health
Mroczkowska R, Szlenk-Czyczerska E, Szwamel K, Fiszer R.   +3 more
europepmc   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy. [PDF]

Orphanet J Rare Dis
Skvortsova L, Perfilyeva A, Bespalova K, Kuzovleva Y, Kabysheva N, Khamdiyeva O.   +5 more
europepmc   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Second-Trimester Ultrasound Receipt Mediates the Relationship Between Public Insurance and Prenatal Diagnosis of a Congenital Heart Defect. [PDF]

Prenat Diagn
Woo JL, Gandhi R, Laternser C, Iyengar T, Yee LM, Grobman WA, Davis MM, Patel A, Johnson JT.   +8 more
europepmc   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source