Results 31 to 40 of about 46,735 (152)

Small lymphocytic lymphoma in a patient with CREST syndrome

open access: yesHematology/Oncology and Stem Cell Therapy, 2011
We report a case of a 61-year-old man with a history of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) who presented for evaluation of thrombocytopenia.
Basem M. William   +3 more
doaj   +1 more source

Migration deficits of the neural crest caused by CXADR triplication in a human Down syndrome stem cell model

open access: yesCell Death and Disease, 2022
Down syndrome (DS) is the most common chromosomal abnormality in live-born infants and is caused by trisomy of chromosome 21. Most individuals with DS display craniofacial dysmorphology, including reduced sizes of the skull, maxilla, and mandible ...
Huanyao Liu   +18 more
doaj   +1 more source

Primary biliary cirrhosis and CREST syndrome [PDF]

open access: yesRevista Española de Enfermedades Digestivas, 2004
A 54-year-old woman suffering from Raynaud’s phenomenon for many years. She had noticed a gradual disappearanceof the skin folds of her face and a lack of ability to open her mouth. Her limbs showed sclerodactyly and isolated telan-giectases (Fig. 1a). She had positive anticentromere antibody.She was evaluated because of dysphagia with solids, pyrosis ...
Marín Gabriel,J. C.   +1 more
openaire   +3 more sources

Pax7 lineage contributions to the mammalian neural crest.

open access: yesPLoS ONE, 2012
BackgroundNeural crest cells are vertebrate-specific multipotent cells that contribute to a variety of tissues including the peripheral nervous system, melanocytes, and craniofacial bones and cartilage.
Barbara Murdoch   +2 more
doaj   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development

open access: yesFrontiers in Physiology, 2014
Neural crest cells are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Adam P Ross, Konstantinos eZarbalis
doaj   +1 more source

Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature

open access: yesSaudi Journal of Anaesthesia, 2012
Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited.
Uday S Ambi   +3 more
doaj   +1 more source

Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development

open access: yesNature Communications, 2023
Cardiac neural crest must differentiate and migrate correctly to achieve proper cardiovascular development. Here, the authors use single cell analyses to show how these cells are altered non-autonomously by loss of Tbx1, the major gene for 22q11.2 ...
Christopher De Bono   +5 more
doaj   +1 more source

Dystrophic Calcinosis in a Patient with Scleroderma: Imaging Findings and Literature Review

open access: yesJournal of Mazandaran University of Medical Sciences, 2020
Subcutaneous calcinosis consists of abnormal calcium deposition in soft tissues and is one of the complications of scleroderma, especially in limited systemic sclerosis.
Maryam Mobini   +2 more
doaj  

Sporadic hemiplegic migraine and CREST syndrome [PDF]

open access: yesThe Journal of Headache and Pain, 2010
Hemiplegic migraines are characterised by attacks of migraine with aura accompanied by transient motor weakness. There are both familial and sporadic subtypes, which are now recognised as separate entities by the International Classification of Headache Disorders, edition II (ICHD-II).
Grecco, Martin Pablo   +4 more
openaire   +2 more sources

A Case Study of Two Siblings of Waardenburg Syndrome

open access: yesDelhi Journal of Ophthalmology, 2019
Waardenburg syndrome is a rare genetically heterogenous disorder of neural crest cell development. Six distinctive features comprising this syndrome include: (1) telecanthus, (2) broad nasal root, (3) synophrys of the eyebrows, (4) a white forelock, (5 ...
Kritika Katoch   +2 more
doaj   +1 more source

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