Results 101 to 110 of about 708 (140)

Tumoral acidosis promotes adipose tissue depletion by fostering adipocyte lipolysis. [PDF]

open access: yesMol Metab
Lefevre C   +8 more
europepmc   +1 more source

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate. [PDF]

open access: yesHum Genet
Robinson K   +17 more
europepmc   +1 more source

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

open access: yesIndian Dermatol Online J, 2017
Kumar R, Sharda S, Soni V, Nambiyar K.
europepmc   +1 more source

The De Barsy syndrome

Journal of Cutaneous Pathology, 2004
Background:  In 1968, De Barsy reported on a girl exhibiting an aged aspect, ‘dwarfism, oligophrenia, and degeneration of the elastic tissue in cornea and skin’. The disorder was recognized as a subgroup of cutis laxa syndrome and termed De Barsy–Moens–Dierckx syndrome.
GUERRA, Deanna   +6 more
openaire   +5 more sources

Orthopaedic Manifestations in de Barsy Syndrome

Journal of Pediatric Orthopaedics, 1994
de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosis, multiple joint dislocations and subluxations, and ...
R P, Stanton, N, Rao, C I, Scott
openaire   +4 more sources

Anesthesia considerations for patients with de Barsy syndrome

Journal of Clinical Anesthesia, 2010
To determine anesthetic considerations for patients with de Barsy syndrome, a rare complex whose hallmark findings include cutis laxa, progeria, and multiple orthopedic and ophthalmologic abnormalities.Retrospective chart review.Medical center.A search of Mayo Clinic medical records from 1968 to 2007 identified two patients with de Barsy syndrome who ...
Elisabeth P, Aponte   +3 more
openaire   +4 more sources

De Barsy syndrome: a review of the phenotype

Clinical Dysmorphology, 2008
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopaedic and neurological abnormalities are also typically present. The syndrome was first described by de Barsy et al.
Emma C, Kivuva   +4 more
openaire   +4 more sources

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