Results 61 to 70 of about 2,045 (160)

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Evidence of Top‐Down Sensory Prediction in Neonates Within 2 Days of Birth

Developmental Science, Volume 29, Issue 2, March 2026.
ABSTRACT Recent studies have demonstrated top‐down modulation in perceptual cortices in infants as young as 6 months. However, it is unclear when and how this ability emerges given conflicting evidence available. This study investigates top‐down perceptual modulation by focusing on a neural signature referred to as top‐down sensory prediction, where ...
Naiqi G. Xiao, Claire E. Robertson, Lauren L. Emberson   +2 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Molecular Cytogenetics, 2018
Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate ...
Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm   +6 more
doaj   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships.
Esther Levy, Leighton Elliott, Michal A. Miller, Mackenzie Kramer, Balraj Mittal   +4 more
wiley   +1 more source

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Orphanet Journal of Rare Diseases, 2020
Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as well as
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska   +9 more
doaj   +1 more source

A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members

Genetics Research , Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Using whole‐exome sequencing (WES) in a Chinese MFS family, we identified a novel heterozygous nonsense variant FBN1:c.1415dup;p.(Tyr472Ter), which cosegregates with the disease phenotype and results in protein truncation ...
Hang Shi, Xuejian Han, Shukai Xing, Yuetong Zhao, Yanyan Wang, Mengtao Yun, Yang Lou, Xiaobo Cui, Baichun Wang, Xiangning Meng, Irfan Ahmad   +10 more
wiley   +1 more source

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome

, 1987
A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research.
Butler, Merlin G., Meaney, F. John
core   +1 more source

Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

, 2023
Phelan–McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene.
Kara E. Powder, Sara M. Sarasua, Katherine Weisensee, Katy Phelan, Jane M. DeLuca, Curtis Rogers, Luigi Boccuto, Lior Rennert, Boccuto, Luigi, Phelan, Katy, Weisensee, Katherine, Sarasua, Sara M., DeLuca, Jane M., Rogers, Curtis, Powder, Kara E., Rennert, Lior   +15 more
core   +1 more source

The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome

Human Mutation, Volume 2026, Issue 1, 2026.
Background Loeys–Dietz syndrome (LDS) is a heritable connective tissue disorder caused by pathogenic variants in genes of the transforming growth factor‐β (TGF‐β) signaling pathway. Although genotype–phenotype correlations have been suggested, comprehensive comparative data across LDS subtypes remain limited.
Hussein Abdul Nabi, Luke Dreher, Jack Hartnett, Ashley Crossley, Hussein El Ghandour, Mayowa Osundiji, Hicham El Masry, Chadi Ayoub, Fadi E. Shamoun, Linnea M. Baudhuin, Suraiya Saleem   +10 more
wiley   +1 more source