Results 21 to 30 of about 99,459 (305)

DNA repair: Disorders [PDF]

open access: yes, 2010
No description ...
Bose   +36 more
core   +1 more source

Ataxia-Telangiectasia with Hyper-IgM Syndrome

open access: yesPediatric Neurology Briefs, 2009
A group of eight children with ataxia-tengiectasia (A-T) who presented with serum Ig levels suggestive of hyper-IgM syndrome (HIGM) are reported from the Department of Paediatrics, Reinier de Graaf Gasthuis, Delft, and other centers in the Netherlands ...
J Gordon Millichap
doaj   +1 more source

A case of cutaneous variant of intravascular large B-cell lymphoma in which dermoscopy revealed telangiectasias associated with erythematous induration

open access: yesDermatology Reports, 2023
Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal, diffuse, large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumen of small blood vessels, with no lymphadenopathy or masses.
Shigeru Koizumi   +4 more
doaj   +1 more source

Hemobilia from biliary angiodysplasia diagnosed with cholangioscopy [PDF]

open access: yes, 2016
Biliary angiodysplasia is extremely rare. Our background search revealed only a few case reports in the English literature. We present a case of angiodysplasia of the proximal common bile duct in a patient with subacute upper gastrointestinal bleeding ...
Foong, Kap Sum   +3 more
core   +2 more sources

The roles of endoglin gene in cerebrovascular diseases. [PDF]

open access: yes, 2017
Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
core   +2 more sources

ATM in focus:a damage sensor and cancer target [PDF]

open access: yes, 2012
The ability of a cell to conserve and maintain its native DNA sequence is fundamental for the survival and normal functioning of the whole organism and protection from cancer development.
Khalil, Hilal S.   +2 more
core   +4 more sources

Facial Neurocutaneous Markers and their Clinical Profile- A Case Series [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2023
Cutaneous birth marks are heterogeneous group of congenital skin lesions with a high diagnostic value. A good clinician by looking at the skin, eye and face can diagnose conditions like Neurofibromatosis type 1 (NF1), Tuberous Sclerosis Complex (TSC ...
Bibekananda Mukherjee   +2 more
doaj   +1 more source

Widening use of dexamethasone implant for the treatment of macular edema [PDF]

open access: yes, 2017
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis.
Avitabile T.   +9 more
core   +2 more sources

Lipoedema and Overweight Leading to Generalised Oedema: A Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2021
The aim of the case report was to discuss generalised oedema in a patient with lipoedema and obesity, describing a novel concept of a stage 0 lymphoedema that was denominated as subclinical systemic lymphoedema. A 35-year-old female patient reported to
Jose Maria Pereira de Godoy   +1 more
doaj   +1 more source

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

open access: yes, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L   +34 more
core   +1 more source

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