Results 211 to 220 of about 49,640 (282)

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort. [PDF]

Hum Genomics
Fu F, Wei X, Chen C, Huang R, Tan X, Zhou H, Li R, Yu Q, Li F, Zhang Y, Li L, Jing X, Li D, Sun L, Liao C.   +14 more
europepmc   +1 more source

Neonatal Surveillance Gaps in Maternal Graves' Disease: Findings From a Queensland Maternity Hospital

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 3, June 2026.
ABSTRACT Background Graves' disease presents unique challenges in pregnancy due to the risk of neonatal morbidity and mortality from maternal TSH Receptor antibodies (TRAb). A maternity hospital in Queensland has implemented a policy to identify at‐risk neonates and facilitate follow‐up, including cord blood TRAb, thyroid function tests (TFTs), and ...
Umesha Pathmanathan, Annabel Wingate, Stephanie Teasdale   +2 more
wiley   +1 more source

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre. [PDF]

Int J Dev Neurosci
Rodrigues ASR, Silva PYF, Rodrigues RP, Pinho KGFD, da Costa Penha S, Leite ÁJM.   +5 more
europepmc   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

FLVCR1-related diseases: from clinical heterogeneity to mechanistic insights. [PDF]

Brain Commun
Zanin Venturini DI, Chiabrando D.
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium. [PDF]

PLOS Glob Public Health
Miranda-Filho DB, Ximenes RAA, Ramos Montarroyos U, Rosa Abtibol-Bernardino M, Brickley EB, Turchi Martelli CM, Cunha Rodrigues L, Velho Barreto de Araújo T, Ventura LO, Leal MC, Neves Santos D, Marques Dos Santos L, Monteiro Santos L, Rabelo Gomes M, de Siqueira IC, Serra L, Rios DPMS, Carvalho A, Silva AM, Silva Sousa P, Ribeiro MC, Campos MG, Passos SD, Bertozzi APP, Gazeta RE, Catalan DT, Queiroz Gurgel R, Lopes ASA, Medeiros AMC, Brasil P, Nielsen-Saines K, Vasconcelos Z, Zin AA, Mussi-Pinhata MM, Negrini SFBM, Negrini BVM, Caldas CACT, Vivacqua D, Coelho BP, Peixoto LFAA, Bôtto-Menezes C, Benzecry SG, de Oliveira CS, Paschoal JKSF, Serra EMF, Gomes LTS, Moreira ME, Hofer CB, Zika Brazilian Cohorts Consortium (ZBC Consortium).   +48 more
europepmc   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, Volume 109, Issue 6, Page 1070-1075, June 2026.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

ASPM promotes the progression of ovarian endometriosis by modulating the cell cycle and activating the Wnt/β-catenin signaling pathway. [PDF]

Medicine (Baltimore)
Liu X, Qin R, Zheng F.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, Volume 109, Issue 6, Page 1076-1080, June 2026.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source