Results 91 to 100 of about 81,010 (209)

Parental Age and Severity of Non-Syndromic Orofacial Clefts: Relationship with De Novo Mutations

Nigerian Dental Journal
Background: This study investigates the relationship between paternal and maternal age, and the severity of orofacial clefts and the presence of de novo mutations in children.
Olawale ADAMSON, Abimbola OLADUGBA, Azeez ALADE, Waheed AWOTOYE, Tamara BUSCH, Mary LI, Azeez FASHINA, Joy OLOTU, Veronica SULE, Olutayo JAMES, Mobolanle OGUNLEWE, Wasiu ADEYEMO, Azeez BUTALI, Natalie IBARRA   +13 more
doaj   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Advanced Paternal Age and Its Impact on Reproductive and Offspring Health: Integrating Evidence from Clinical and Translational Studies

Fertility & Reproduction
Background: Advanced paternal age (APA) has emerged as a critical factor in reproductive health outcomes. Objective: To comprehensively review the effects of increasing paternal age on fertility parameters, embryo quality, and offspring well-being ...
Ameet Patki, Ritu Hinduja
doaj   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Assemblages of care: Moral economies, classed labor, and affective exhaustion among Karachi's working middle‐class women

Feminist Anthropology, EarlyView.
Abstract This article explores how working middle‐class women in Karachi navigate the intersecting burdens of care and self‐care within the affective, infrastructural, and ideological conditions of urban precarity. Drawing on twelve semi‐structured interviews conducted across homes, workplaces, and cafés in the city, seven of which anchor the primary ...
Muhammad Huzaifa
wiley   +1 more source

The matrilineal Turn: Wiradjuri matrilineal leadership, colonial disruption, and the work of cultural return

Feminist Anthropology, EarlyView.
Abstract This article advances three claims regarding the matrilineal organization of Wiradjuri society in central New South Wales. Drawing on the late nineteenth and early twentieth century ethnographic record, it demonstrates that Wiradjuri descent, totem, moiety identity, and ceremonial authority were and are matrilineally organized, despite ...
Jessa Rogers
wiley   +1 more source

Evolution from reflex myoclonic epilepsy of infancy to childhood absence epilepsy in NRXN1‐related disorder

Epileptic Disorders, EarlyView.
Shanine Kamgang, Kenneth A. Myers
wiley   +1 more source

Gendered Pathways to Work–Family Balance and Their Consequences: Insights From Dual‐Career Faculty Couples

Human Resource Development Quarterly, EarlyView.
ABSTRACT This study examines gendered work–family balance (WFB) experiences among dual‐career academic couples at U.S. research‐intensive universities. By comparing faculty couples who shared the same or similar professional and family contexts, the study explores how gendered demands, challenges, resources, and strategies shaped distinct WFB outcomes.
Kyung Nam Kim, Shinhee Jeong
wiley   +1 more source

The impact of paternal age on cumulative assisted reproductive technology outcomes. [PDF]

Front Med (Lausanne), 2023
Farabet C, Pirtea P, Benammar A, De Ziegler D, Marchiori C, Vallée A, Ayoubi JM.   +6 more
europepmc   +1 more source