Results 181 to 190 of about 317,190 (282)

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Chromosomal microarray analysis for the prenatal diagnosis in fetuses with fetal echogenic bowel: a retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Wu W, Tian M, Liu M, Man D, Wang F.
europepmc   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis. [PDF]

HGG Adv
Hao Y, Geng Q, Li X, Yang J, Liu Y, Huang Q, Xu Y, Li P, Xie J, Wu W, Wu B, Liu W.   +11 more
europepmc   +1 more source

Repositioning Non‐Ablative Fractional Lasers ‐ Molecular and Histological Insights from a scoping review

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Near‐infrared non‐ablative fractional lasers (NAFL) are established for skin rejuvenation and scar treatment and have attracted interest for their expanding therapeutic potential. This scoping review aims to revisit and reposition NAFL within a fluence‐dependent continuum of tissue modulation, based on evidence from 27 studies of lasers ...
Guy Erlich, Uwe Paasch, Kevin Jacobsen, Merete Haedersdal, Uffe Høgh Olesen   +4 more
wiley   +1 more source

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]

Mol Cytogenet
Khelifi R, Othmane H, Ajmi H, Slimani W, Bennour A, Dardour L, Soyeh N, Benzarti A, Rjiba K, Abdallah HH, Rassass A, Kooli R, Mghirbi O, Kammoun M, Khelifa HB, Bahri F, Hayet M, Ammar A, Ghanmi S, Mathlouthi J, Ben Hamida H, Habboul Z, Kemis T, Kharrat H, Hassine N, Tej A, Bellalah M, Chouikh F, Houssine M, Mahdhaoui A, Kortas C, Guith A, Maatouk F, Naffeti E, Soua H, Gribaa M, Saad A, Mougou-Zerelli S.   +37 more
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. [PDF]

Ann Med
Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M.   +4 more
europepmc   +1 more source

Causal subgroups and declining rates of cerebral palsy in Victoria, Australia

Developmental Medicine &Child Neurology, EarlyView.
In this population‐based study, the main contributors to declining rates of cerebral palsy in Victoria, Australia, were causal subgroups involving presumed perinatal brain insults in neonates born preterm and at term requiring higher nursery care.
Susan M. Reid, Gina L. Hinwood, Angela T. Guzys, Rod W. Hunt, Dinah S. Reddihough   +4 more
wiley   +1 more source