Results 51 to 60 of about 3,488,118 (356)

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis   +9 more
wiley   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim   +8 more
wiley   +1 more source

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

open access: yesGenome Research, 1996
The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is located on human chromosome 21q22.3 in a region defined by recombination breakpoints and linkage disequilibrium. As part of an effort to clone the EPM1 gene
Nancy E. Stone   +9 more
semanticscholar   +1 more source

Potential Early Risk Biomarkers for Reduced Forced Expiratory Volume in Children Post‐Hematopoietic Cell Transplantation

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT We sought to identify potential early risk biomarkers for lung disease in children post‐allogeneic HCT. Patients with pulmonary function tests 3 months post‐transplant and plasma samples between days 7 and 14 post‐HCT were included. Six of 27 subjects enrolled had reduced forced expiratory volume 1 (FEV1) z scores.
Isabella S. Small   +3 more
wiley   +1 more source

BiLipschitz Decomposition of Lipschitz Maps between Carnot Groups

open access: yesAnalysis and Geometry in Metric Spaces, 2015
Let f : G → H be a Lipschitz map between two Carnot groups. We show that if B is a ball of G, then there exists a subset Z ⊂ B, whose image in H under f has small Hausdorff content, such that B\Z can be decomposed into a controlled number of pieces, the ...
Li Sean
doaj   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus   +6 more
wiley   +1 more source

AGORA: Assembly Guided by Optical Restriction Alignment

open access: yesBMC Bioinformatics, 2012
Background Genome assembly is difficult due to repeated sequences within the genome, which create ambiguities and cause the final assembly to be broken up into many separate sequences (contigs).
Lin Henry C   +6 more
doaj   +1 more source

A 2nd generation linkage map of Heterobasidion annosum s.l. based on in silico anchoring of AFLP markers. [PDF]

open access: yesPLoS ONE, 2012
In this study, we present a 2(nd) generation genetic linkage map of a cross between the North American species Heterobasidion irregulare and H. occidentale, based on the alignment of the previously published 1(st) generation map to the parental genomes ...
Mårten Lind   +4 more
doaj   +1 more source

A restriction isomorphism for cycles of relative dimension zero

open access: yes, 2016
We study the restriction map to the closed fiber of a regular projective scheme over an excellent henselian discrete valuation ring, for a cohomological version of the Chow group of relative zero-cycles. Our main result extends the work of Saito--Sato to
Esnault, Hélène   +2 more
core   +1 more source

Home - About - Disclaimer - Privacy