Results 61 to 70 of about 58,780 (225)

Granulomatous fasciitis followed by morphea profunda: Is granulomatous fasciitis part of a spectrum of deep morphea? A case report and review of the literature. [PDF]

open access: yes, 2018
Although eosinophilic fasciitis is known to be part of the deep morphea spectrum, this first report of the coexistence of granulomatous fasciitis and morphea profunda suggests that granulomatous fasciitis may also be a part of the spectrum of deep ...
Christensen, Angie   +5 more
core   +1 more source

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

open access: yes, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Ультрадисперсные порошки на основе железа как катализаторы синтеза жидких углеводородов из СО и Н[2] [PDF]

open access: yes, 2005
International audienceTo date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist.
Altug-Teber, Ozge   +11 more
core   +2 more sources

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

open access: yesJournal of Medical Genetics, 2021
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad.
Ahmed S N Alhendi   +7 more
semanticscholar   +1 more source

Silver-Russell Syndrome

open access: yesSri Lanka Journal of Child Health, 2009
No abstract ...
Alexander K. C. Leung   +150 more
openaire   +3 more sources

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

open access: yesMolecular Cytogenetics, 2017
Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Jiasun Su   +11 more
doaj   +1 more source

Myosin VIIA is required for aminoglycoside accumulation in cochlear hair cells. [PDF]

open access: yes, 1997
Myosin VIIA is expressed by sensory hair cells and has a primary structure predicting a role in membrane trafficking and turnover, processes that may underlie the susceptibility of hair cells to aminoglycoside antibiotics. [3H]Gentamicin accumulation and
Brown, S D M   +5 more
core   +2 more sources

The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family [PDF]

open access: yes, 2015
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases that have diverse roles in tissue morphogenesis and patho-physiological remodeling, in ...
A Colige   +145 more
core   +1 more source

New Horizons in Short Children Born Small for Gestational Age

open access: yesFrontiers in Pediatrics, 2021
Children born small for gestational age (SGA) comprise a heterogeneous group due to the varied nature of the cause. Approximately 85–90% have catch-up growth within the first 4 postnatal years, while the remainder remain short.
Irène Netchine   +5 more
doaj   +1 more source

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children [PDF]

open access: yes, 2017
Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7) mat] explain 20-60% and 10% of the syndrome, respectively.
Bergstrom, Anna   +10 more
core   +2 more sources

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