Results 201 to 210 of about 59,286 (281)

Cutis Tricolor‐Like Pigmentary Mosaicism in Mowat–Wilson Syndrome: Phenotypic Overlap With Ruggieri–Happle Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis, Pierre Meyer, Marjolaine Willems   +2 more
wiley   +1 more source

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

Correction: Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis

PLoS ONE, 2022
Sen Li, Lei-Ning Chen, Xing-Hua Wang, Hai-Jing Zhu, Xiao-Long Li, Xie Feng, Lei Guo, Xiang-Hong Ou, Jun-Yu Ma   +8 more
doaj  

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

Oestrogen receptor phosphorylation profiles and in silico PAM50 subtyping reflect sexual dimorphism in breast cancer

The Journal of Pathology: Clinical Research, Volume 12, Issue 4, July 2026.
Abstract Breast cancer (BC) is most prevalent in females but also accounts for <1% of male cancer cases and 0.2% of male cancer‐related deaths. Distribution of histological subtypes, receptor status, and age of diagnosis varies based on sex, and a growing body of evidence supports sex‐specific molecular differences in BC.
Subarnarekha Chatterji, Aimee Diack, Marcin Szostok, Michael D Morgan, Valentina Silvestri, Laura Ottini, Cathy B Moelans, Paul J van Diest, Cigdem Selli, Andrew H Sims, Rasha Abu‐Eid, Valerie Speirs   +11 more
wiley   +1 more source

Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals. [PDF]

Mol Syndromol
Carrasco Salas P, Granell Escobar R, Serrano Mira A, Pérez Saldaña A, Cosculluela Vidal M, Garrido C, Vázquez Rico I.   +6 more
europepmc   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1696-1701, July 2026.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Huang N, Chen Y, Wu J, Ye X, Chen C.   +5 more
europepmc   +1 more source