Results 71 to 80 of about 128,557 (342)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Cytogenetics of Legumes in the Phaseoloid Clade

The Plant Genome, 2013
Cytogenetics played an essential role in studies of chromosome structure, behavior, and evolution in numerous plant species. The advent of molecular cytogenetics combined with recent development of genomic resources has ushered in a new era of chromosome
Aiko Iwata, Christopher M. Greenland, Scott A. Jackson   +2 more
doaj   +1 more source

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
A Gnirke, AHN Hopman, AR Mitchell, C Huxley, C Lengauer, Christoph Lengauer, D Pinkel, ED Green, EW Jabs, HF Willard, HF Willard, HF Willard, HM Rosenberg, Ian Dunham, J Anastasi, J Meyne, JE Koch, JS Waye, JS Waye, JS Waye, L Manuelidis, L Manuelidis, M Klever, P Emmerich, PJ Poddighe, PR Langer, S Popp, T Cremer, T Cremer, T Cremer, T Imai, T Maniatis, Terry Featherstone, Thomas Cremer   +33 more
core   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations

Scientific Reports
SARS CoV-2, the causative agent for the ongoing COVID-19 pandemic, it enters the host cell by activating the ACE2 receptor with the help of two proteasesi.e., Furin and TMPRSS2.
Rudra Kumar Pandey, Anshika Srivastava, Rahul Kumar Mishra, Prajjval Pratap Singh, Gyaneshwer Chaubey   +4 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes [PDF]

, 1993
Colored chromosome staining patterns, termed chromosomal ‘bar codes’ (CBCs), were obtained on human chromosomes by fluorescence in situ hybridization (FISH) with pools of Alu-PCR products from YAC dones containing human DNA inserts ranging from 100 kbp ...
Cremer, Thomas, D'Urso, Michele, Donis-Keller, Helen, Jauch, Anna, Lengauer, Christoph, Nagaraja, Ramaiah, Popp, Susanne, Riethman, Harold C., Schlessinger, David, Speicher, Michael R., Taniwaki, Masafumi   +10 more
core   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features

Haematologica, 2013
In childhood B-cell precursor acute lymphoblastic leukemia, cytogenetics is important in diagnosis and as an indicator of response to therapy, thus playing a key role in risk stratification of patients for treatment.
Claire J. Schwab, Lucy Chilton, Heather Morrison, Lisa Jones, Halima Al-Shehhi, Amy Erhorn, Lisa J. Russell, Anthony V. Moorman, Christine J. Harrison   +8 more
doaj   +1 more source

Analysis of the Metaphase Chromosome Karyotypes in Imaginal Discs of Aedes communis, Ae. punctor, Ae. intrudens, and Ae. rossicus (Diptera: Culicidae) Mosquitoes

Insects, 2020
In this study, cytogenetic analysis of the metaphase chromosomes from imaginal discs of Aedes (Diptera: Culicidae) mosquitoes—Aedes communis, Ae. punctor, Ae. intrudens, and Ae. rossicus—was performed.
Svetlana S. Alekseeva, Yulia V. Andreeva, Irina E. Wasserlauf, Anuarbek K. Sibataev, Vladimir N. Stegniy   +4 more
doaj   +1 more source