Results 51 to 60 of about 100,877 (263)

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Genetics and Molecular Biology, 2007
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former ...
Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante   +7 more
doaj   +1 more source

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Frontiers in Pediatrics, 2020
Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects.
Cristina Gug, Dorina Stoicanescu, Ioana Mozos, Ioana Mozos, Laura Nussbaum, Mariana Cevei, Danae Stambouli, Anca Gabriela Pavel, Gabriela Doros   +8 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu   +6 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

A rare inherited 15q11.2-q13.1 interstitial duplication with maternal somatic mosaicism, renal carcinoma and autism

Frontiers in Genetics, 2016
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here we describe a unique family with an interstitial 15q11.2-q13.1
Nora Urraca, Nora Urraca, Brian Potter, Brian Potter, Rachel Hundley, Eniko Pivnick, Eniko Pivnick, Kathryn McVicar, Ronald Thibert, Chistopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois, Stormy J. Chamberlain, Lawrence T. Reiter, Lawrence T. Reiter   +15 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Molecular Cytogenetics, 2008
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau   +8 more
doaj   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 10p [inv dup del(10p)]. Case report: A 39-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Li -Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source