Results 101 to 110 of about 237,429 (310)

Chromosome transplantation as a novel approach for correcting complex genomic disorders [PDF]

, 2015
Genomic disorders resulting from large rearrangements of the genome remain an important unsolved issue in gene therapy. Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the potential of
Recordati, Camilla, Susani, Lucia, Lagutina, Irina, Scanziani, Eugenio, Vezzoni, Paolo, Paulis, Marianna, A. Villa, Uva, Paolo, I. Lagutina, F. Lucchini, Lizier, Michela, L. Susani, C. Recordati, C. Galli, P. Uva, T. Neri, FOCARELLI, MARIA LUISA, Castelli, Alessandra, Villa, Anna, GALLI, CESARE, FAGGIOLI, FRANCESCA, M. Paulis, Neri, Tui, A. Castelli, M. Lizier, Lucchini, Franco, P. Vezzoni, E. Scanziani   +27 more
core   +1 more source

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]

J Assist Reprod Genet, 2022
Martel RA, Blakemore JK, Fino ME.
europepmc   +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

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. [PDF]

, 2010
BACKGROUND: Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours.
Klauck, Sabine M., Mulder, EJ, Monaco, Anthony P, Klauck, Sabine M, Bailey, Anthony J., Bailey Anthony J, Poustka Fritz, Sousa, I, Bailey, Anthony J, Pagnamenta Alistair T, Fritz Poustka, Mulder, Erik J., Alistair T Pagnamenta, Battaglia Agatino, Taane G Clark, Clark, Taane Gregrory, Mulder Erik J, Clark, Taane G., Monaco, AP, Pagnamenta, Alistair T, Minderaa Ruud B, Klauck Sabine M, Sousa, Inês, Pagnamenta, AT, Anthony P Monaco, Monaco Anthony P, Erik J Mulder, null null, Clark, Taane G, Clark, TG, Klauck, SM, Monaco, Anthony P., Ruud B Minderaa, Pagnamenta, Alistair T., Minderaa, Ruud B., Inês Sousa, Holt, Richard, International Molecular Genetic Study of Autism Consortium (IMGS, Monaco, Anthony, Richard Holt, Anthony J Bailey, Clark Taane G, Minderaa, Ruud B, Battaglia, Agatino, Holt, R, Sabine M Klauck, Bailey, AJ, Agatino Battaglia, Holt Richard, Minderaa, RB, Mulder, Erik J, Sousa Inês, Poustka, F, Poustka, Fritz, Battaglia, A   +54 more
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

A dermatoglyphic investigation of selected skin disorders [PDF]

, 1994
This investigation involved the study of qualitative and quantitative digital and palmar traits in patients with various selected skin disorders and normal control subjects.
Blackwell, D, Blackwell, David
core  

Unique Characteristics of the X Chromosome and Related Disorders [PDF]

, 2017
X-linked disorders include chromosomal aberrations as well as deleterious variants in the specific genes encoded on the X chromosome. In comparison to autosomal chromosomes, the X chromosome has unique features that impact disease expression. The primary
Alison DeRemigis, Kshama Shah, Sudhir Sriram, Joseph R. Hageman, Darrel Waggoner   +4 more
core   +1 more source

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders

Brain Sciences, 2018
Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system ...
Paulo Pinares-Garcia, Marielle Stratikopoulos, Alice Zagato, Hannah Loke, Joohyung Lee   +4 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +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