Results 151 to 160 of about 179,655 (257)

Birth prevalence, clinical sequelae, and management of congenital cytomegalovirus infections in Australia, 1999–2023: a national prospective study

open access: yesMedical Journal of Australia, EarlyView.
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer   +7 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders   +11 more
wiley   +1 more source

Shared Lineage, Distinct Outcomes: Yap and Taz Loss Differentially Impact Schwann and Olfactory Ensheathing Cell Development Without Disrupting GnRH‐1 Migration

open access: yesGlia, Volume 73, Issue 10, Page 2077-2097, October 2025.
Main Points OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the ...
Ed Zandro M. Taroc   +7 more
wiley   +1 more source

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