Results 71 to 80 of about 6,628 (168)

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

Arquivos de Neuro-Psiquiatria, 1997
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region.
João M. de Pina-Neto, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, Sue Malcolm   +5 more
doaj   +1 more source

Allele specific expression in Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Allele‐specific expression (ASE), preferential expression of one allele at a heterozygous locus, is implicated in various brain diseases but remains largely uncharacterized in Alzheimer's disease (AD). METHODS We performed a genome‐wide characterization of ASE variants across seven brain regions of 2,231 AD and Control patients ...
Zishan Wang, Delowar Hossain, Judy Jiaru Wang, Varun R. Subramaniam, Bin Zhang, Minghui Wang, Kuan‐lin Huang   +6 more
wiley   +1 more source

Phenotypic and behavioral variability within Angelman Syndrome group with UPD

Genetics and Molecular Biology, 2002
The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations.
Cintia Fridman, Monica C. Varela, Kette Valente, Maria J. Marques-Dias, Célia P. Koiffmann   +4 more
doaj   +1 more source

CEBP and ZEB2 alterations define three distinct subtypes of B‐cell acute lymphoblastic leukemia

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract B‐cell acute lymphoblastic leukemia (B‐ALL) is a heterogeneous malignancy driven by diverse genetic alterations. Among these, CEBP family genes and ZEB2 are recurrently involved, yet the spectrum of genomic mechanisms and their clinical impact remain incompletely defined.
Rathana Kim, Marie Passet, Hugo Bergugnat, Loïc Vasseur, Thibaut Leguay, Françoise Huguet, Mathilde Hunault, Tom Sexton, Melha Benlebna, Julie Renard, Emmanuel Raffoux, Cédric Pastoret, Cathie Erb, Laureen Chat, Eric Delabesse, Stéphanie Gachet, Caroline Bonmati, Marie Balsat, Thorsten Braun, Audrey Bidet, Nicolas Duployez, Carlos Graux, Yves Chalandon, Philippe Rousselot, Patrice Chevallier, Jean Soulier, Véronique Lhéritier, Hervé Dombret, Nicolas Boissel, Emmanuelle Clappier   +29 more
wiley   +1 more source

Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman" size="2"><p align="left">Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent.
Mir Davood Omrani, Soraya Saleh Gargari
doaj  

Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy

Haematologica, 2009
Background T-cell prolymphocytic leukemia is a rare aggressive lymphoproliferative disease with a mature T-cell phenotype and characteristic genomic lesions such as inv(14)(q11q34), t(14;14)(q11;q32) or t(X;14)(q28;q11), mutation of the ATM gene on ...
Daniel Nowak, Emilie Le Toriellec, Marc-Henri Stern, Norihiko Kawamata, Tadayuki Akagi, Martin J. Dyer, Wolf-Karsten Hofmann, Seishi Ogawa, H. Phillip Koeffler   +8 more
doaj   +1 more source

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

BMC Bioinformatics, 2006
Background A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes), microdeletions, microduplications, and uniparental disomy.
Thomas George H, Ye Ying, Ting Jason C, Ruczinski Ingo, Pevsner Jonathan   +4 more
doaj   +1 more source

Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.

Translational pediatrics, 2016
Robertsonian translocations (ROBs) are whole arm rearrangements involving the acrocentric chromosomes 13-15 and 21-22 and carriers are at increased risk for aneuploidy and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted with expression of genes dependent on the parental origin of the chromosome.
openaire   +1 more source

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil

Orphanet Journal of Rare Diseases
Background Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis.
Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida   +10 more
doaj   +1 more source

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15.

PLoS ONE, 2016
We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy ...
Artur Brandt, Katharina Löhers, Manfred Beier, Barbara Leube, Carmen de Torres, Jaume Mora, Parineeta Arora, Parmjit S Jat, Brigitte Royer-Pokora   +8 more
doaj   +1 more source