Results 71 to 80 of about 5,596,228 (313)

Overgrowth Syndromes. [PDF]

open access: yesThe American Journal of Human Genetics, 1990
The causes of these fascinating conditions and the mechanisms by which infants of such proportions are formed remain generally unknown. Future understanding of the overgrowth syndromes is likely to be gained from studies employing the exciting new methodology of molecular genetics.
openaire   +2 more sources

The Role of Invasive Procedures in the Treatment of Complicated Gastrointestinal Graft‐Versus‐Host Disease in Pediatric Patients

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Gastrointestinal graft‐versus‐host disease (GI GVHD) following hematopoietic stem cell transplant is typically managed with medical therapy, but surgery and angioembolization may be warranted in selected cases with life‐threatening complications.
Gaia Brunetti   +12 more
wiley   +1 more source

Visuo-spatial cognition in Williams syndrome: Reviewing and accounting for the strengths and weaknesses in performance [PDF]

open access: yes, 2003
Individuals with Williams syndrome typically show relatively poor visuo-spatial abilities in comparison to stronger verbal skills. However, individuals' level of performance is not consistent across all visuo-spatial tasks.
Anderson J. C.   +40 more
core   +3 more sources

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider   +4 more
wiley   +1 more source

Multiple Sclerosis as a Syndrome—Implications for Future Management

open access: yesFrontiers in Neurology, 2020
We propose that multiple sclerosis (MS) is best characterized as a syndrome rather than a single disease because different pathogenetic mechanisms can result in the constellation of symptoms and signs by which MS is clinically characterized.
Christopher M. Dwyer   +10 more
doaj   +1 more source

Antiphospholipid Syndrome

open access: yesJournal of Investigative Dermatology, 1993
The antiphospholipid antibodies (aPL), namely, the lupus anticoagulant and the anticardiolipin antibodies, are a family of autoantibodies directed predominantly against negatively charged phospholipids. Many studies have confirmed that patients with these antibodies are prone to repeated episodes of thrombosis, fetal losses, and thrombocytopenia.
Asherson, Ronald A., Cervera, Ricard
openaire   +2 more sources

Lemierre's Syndrome [PDF]

open access: yesWestern Journal of Emergency Medicine, 2014
[West J Emerg Med. 2014;15(2):125-126.]
Shook, Jayten, Trigger, Christopher
openaire   +5 more sources

Ethnic Differences in the Association Between SOD2 rs4880 and Hepatotoxicity in Pediatric Acute Lymphoblastic Leukemia: A Report From the REDIAL Consortium

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Treatment‐associated hepatotoxicity (TAH) is a common complication of pediatric acute lymphoblastic leukemia (ALL) treatment, but genetic risk factors remain poorly understood. We evaluated the SOD2 rs4880 variant in 544 children with ALL at Texas Children's Hospital. After adjusting for demographic and clinical covariates, the rs4880 C allele
Emily J. Mason   +14 more
wiley   +1 more source

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies [PDF]

open access: yes, 2019
Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted
Gilles de la Tourette GWAS Replication Initiative   +4 more
core   +1 more source

Patterns of recruitment and injury in a heterogeneous airway network model [PDF]

open access: yes, 2015
In respiratory distress, lung airways become flooded with liquid and may collapse due to surface-tension forces acting on air-liquid interfaces, inhibiting gas exchange.
Cressoni M   +5 more
core   +2 more sources

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