Results 211 to 220 of about 59,286 (281)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

<i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. [PDF]

Int J Mol Sci
Surimova V, Risinskaya N, Kotova E, Abdulpatakhov A, Vasileva A, Chabaeva Y, Starchenko S, Aleshina O, Kapranov N, Galtseva I, Ponomareva A, Kanivets I, Korostelev S, Kulikov S, Sudarikov A, Parovichnikova E.   +15 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

Reduced SH3RF3 May Protect Against Alzheimer's Disease by Lowering Microglial Pro‐Inflammatory Responses via Modulation of JNK and NFkB Signaling

Glia, Volume 74, Issue 7, July 2026.
SNPs in SH3RF3 decrease the age of onset of Alzheimer's disease (AD). Reduced SH3RF3 blunts human microglial JNK and NFkB signaling and downstream inflammatory cytokine production, which may partially explain how SH3RF3 SNPs protect against AD. ABSTRACT Understanding how high‐risk individuals are protected from Alzheimer's disease (AD) may illuminate ...
Ronak Patel, Rong Cheng, Christopher L. Cardona, Ellen Angeles, Gunjandeep Singh, Sabrina Miller, Archana Ashok, Andrew F. Teich, Angel Piriz, Aleyda Maldonado, Ivonne Z. Jiménez‐Velázquez, Richard Mayeux, Joseph H. Lee, Andrew A. Sproul   +13 more
wiley   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Integrative Transcriptomic and Functional Analysis of PKMYT1 Reveals a Potential Therapeutic Target in Chronic Lymphocytic Leukemia

Hematological Oncology, Volume 44, Issue 4, July 2026.
ABSTRACT Chronic lymphocytic leukemia (CLL) is a clinically and molecularly heterogeneous disease. PKMYT1, a G2/M cell cycle kinase, has been implicated in tumor progression in several cancers, but its role in CLL remains unclear. We evaluated PKMYT1 expression in primary CLL samples and analyzed associations with cytogenetic features and clinical ...
Elizabete Cristina Iseke Bispo, Cláudia de Souza Lima Pontes, Jennifer Martins do Nascimento, Fábio Wilson de Lima Alves, Juliana Lott de Carvalho, Antônio Roberto Lucena‐Araujo, Felipe Saldanha‐Araujo   +6 more
wiley   +1 more source

Immune, molecular and genetic profiles of gastric signet ring cell carcinoma: Recent progress and future challenges

International Journal of Cancer, Volume 159, Issue 1, Page 11-29, 1 July 2026.
Abstract Gastric signet ring cell carcinoma (GSRCC) is a special type of gastric cancer common in young women. Diffuse gastric cancer (DGC) begins with intramucosal lesions comprising differentiated GSRCC cells. Genetically, GSRCC and DGC are clonally identical, with their morphology influenced by extracellular Wnt signaling.
Qian Wang, Shuai Zhou, Xiongchao Fang, Xianli He, Gang Wang, Nan Wang   +5 more
wiley   +1 more source

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.

J Indian Assoc Pediatr Surg
Pandey H, Sharma J, Kumar S, Mohan N, Jain V, Dhua AK, Yadav DK, Dubey AK, Choudhury P, Goel P.   +9 more
europepmc   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source