Results 61 to 70 of about 8,531 (188)

Chromosomal mosaicism goes global

Molecular Cytogenetics, 2008
Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy).
Yurov Yuri B, Vorsanova Svetlana G, Iourov Ivan Y   +2 more
doaj   +1 more source

A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2019
Heterozygous germline pathogenic variants found in succinate dehydrogenase (SDH) complex genes predispose to hereditary paraganglioma (PGL) syndromes. No mosaicism has yet been reported in this setting.We describe the clinical history of a case of SDH complex, subunit B (SDHB) mosaicism.
Catherine Cardot-Bauters, Bruno Carnaille, Sébastien Aubert, Michel Crépin, Samuel Boury, Nelly Burnichon, Pascal Pigny   +6 more
openaire   +2 more sources

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

BMC Medical Genomics, 2020
Background Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees ...
Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng, Juan Li   +6 more
doaj   +1 more source

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders [PDF]

European Journal of Human Genetics, 2006
The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in the X-linked gene, FLNA. All OPD spectrum disorders (otopalatodigital syndromes types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome) exhibit significant interfamilial variability in their expressivity ...
Robertson, S, Thompson, S, Morgan, T, Holder-Espinasse, M, Martinot-Duquenoy, V, Wilkie, A, Manouvrier-Hanu, S   +6 more
openaire   +3 more sources

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

The paradigm of somatic mosaicism in complex diseases

Вавиловский журнал генетики и селекции
The multifactorial etiology of complex diseases involves the interplay of polygenic/oligogenic susceptibility loci and environmental factors. Complex diseases are characterized by pronounced phenotypic variability, genetic heterogeneity, pleiotropy of ...
A. A. Sleptcov, M. S. Nazarenko, V. P. Puzyrev   +2 more
doaj   +1 more source