Results 51 to 60 of about 5,203 (193)

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event

Molecular Genetics & Genomic Medicine, 2021
Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year ...
Verónica Fabiola Morán‐Barroso, Alicia Cervantes, María del Refugio Rivera‐Vega, Adriana del Castillo‐Moreno, Alejandra Moreno‐Chacón, Estefanía Mejía‐Cauich, Laura Eréndira Contreras‐Ortiz, Fernando Fernández‐Ramírez   +7 more
doaj   +1 more source

Rapid Ovarian Reserve Decline in a Woman with Pericentric Inv(9) Variant

Women, 2023
Inv(9) is one of the most common chromosomal variants and is generally considered to be a variant of no clinical significance. We describe a case of a 35-year-old woman with a normal baseline fertility workup who presented to a university-affiliated ...
Leeann M. Bui, Laura G. Cooney, Aleksandar K. Stanic   +2 more
doaj   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Deletions in metastatic colorectal cancer with chromothripsis

Experimental Oncology, 2023
Summary. Aim: In our previously reported study, we found a correlation between DNA massive fragmentation and increased progression free survival (PFS) in metastatic colorectal cancer (mCRC), but not overall survival. The aim of this study is to find overlapping deleted genome regions in selected mCRC patients with chromothripsis and detect possible ...
E, Skuja, D, Butane, M, Nakazawa-Miklasevica, Z, Daneberga, G, Purkalne, E, Miklasevics   +5 more
openaire   +2 more sources

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Frontiers in Genetics, 2023
Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral ...
Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Edoardo Errichiello, Teresa Mattina, Teresa Mattina, Orsetta Zuffardi   +8 more
doaj   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, Volume 3, Issue 3, September 2026.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Cytogenetic Characterization of Complex Karyotypes by Multicolor FISH in Myelodysplastic Syndromes and Associated Acute Myeloid Leukemias

Клиническая онкогематология, 2022
Complex karyotypes (CK) were thoroughly analyzed by using the data of multicolor FISH in 27 patients with myelodysplastic syndromes (MDS) and MDS-associated acute myeloid leukemias (AMLm).
M. V. Latypova, Nikolai Nikolaevich Mamaev, T. Yu. Gracheva, T. L. Gindina   +3 more
doaj   +1 more source

Chromoanasynthetic Genomic Rearrangement Identified in a N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Screen in Caenorhabditis elegans

G3: Genes, Genomes, Genetics, 2016
Chromoanasynthesis is a recently discovered phenomenon in humans with congenital diseases that is characterized by complex genomic rearrangements (CGRs) resulting from aberrant repair of catastrophic chromosomal damage.
Omar A. Itani, Stephane Flibotte, Kathleen J. Dumas, Donald G. Moerman, Patrick J. Hu   +4 more
doaj   +1 more source

The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors

Molecular Genetics & Genomic Medicine, 2022
Introduction This study presents a novel molecular parameter potentially co‐defining tumor biology—the total tumor suppressor gene (TSG) count at chromosomal loci harboring genes rearranged in fusion‐defined tumors.
Elaheh Mosaieby, Petr Martínek, Ondrej Ondič   +2 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source