Results 211 to 220 of about 70,338 (285)

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis. [PDF]

Clin Epigenetics
Kurup U, Lim DBN, Maharaj AV, Ishida M, Davies JH, Storr HL.   +5 more
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction. [PDF]

Clin Transl Immunology
Dale RC, Elbourne M, Hofer MJ, Patel S, Mohammad S, Han VX, Yu J, Fu S, D'Silva A, Farrar MA, Bandodkar S, Yan JJ.   +11 more
europepmc   +1 more source

Comprehensive analysis of epidemiological and clinical features of Oropouche virus infection (1975 to 2025): a systematic review. [PDF]

New Microbes New Infect
Wang X, Ding Y, Duarte-Neto AN, Al-Tawfiq JA, Wang W, Pan Q, Li J.   +6 more
europepmc   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Identification of a Chinese patient with <i>MTSS2</i>-causing intellectual disability by WES reanalysis: a case report. [PDF]

Front Psychiatry
Li D, Zhang W, Mei H, Chen X, Lu Z, Wu P, Liu L, Lin Y.   +7 more
europepmc   +1 more source

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency

Journal of Neurochemistry, Volume 170, Issue 3, March 2026.
The study investigates the functional consequences of INTS11 loss‐of‐function (LoF), a genetic alteration linked to neurodevelopmental disorder (NDD), using zebrafish as an in vivo model. To model ints11 deficiency, two complementary approaches are applied: morpholino‐mediated knock‐down and CRISPR–Cas9 transient knock‐out, establishing ints11‐LoF ...
Anna Pistocchi, Elena Chiricozzi, Matilde Molteni, Gaia Galassi, Laura Mauri, Francesca Balistreri, Stefania Magri, Anna Marozzi, Franco Taroni, Alex Pezzotta   +9 more
wiley   +1 more source

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case. [PDF]

BMC Immunol
Kabadayı G, Atay Ö, Baysal Bakır D, Yağmur H, Kaşıkçı Mermer ET, Okur Acar S, Öztürk Yılmaz Ş, Hazan F, Gözmen S, Uzuner N.   +9 more
europepmc   +1 more source

Hammersmith Infant Neurological Examination at 3 Months in Infants at Risk for Congenital Infections: A Cohort Study

Journal of Paediatrics and Child Health, Volume 62, Issue 3, Page 374-380, March 2026.
ABSTRACT Introduction STORCH refers to a group of congenital infections (syphilis, toxoplasmosis, rubella, cytomegalovirus and herpes) that can impact the central nervous system. As clinical signs may not appear until several months or years after birth, the early detection of risk in STORCH‐exposed infants has been challenging, and the use of ...
Karen Cristine Oliveira de Azambuja, Amanda de Arguelho Oliveira Arguelho, Meyene Duque Weber, Lorrainy Marques da Silva Dutra, Tathiana Ghisi de Souza, Daniele Soares‐Marangoni   +5 more
wiley   +1 more source

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. [PDF]

Genes (Basel)
Yeter B, Kendir Demirkol Y, Usluer E, Görüşen Kavak İ, Ergin SG, Elçioğlu NH.   +5 more
europepmc   +1 more source