Literature DB >> 21337683

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.

Liran Horev1, Melissa M Lees, Irene Anteby, John M Gomori, Roxana Gunny, Ziva Ben-Neriah.   

Abstract

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Mesh：

Year:  2011        PMID： 21337683     DOI： 10.1002/ajmg.a.33104

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

Authors:  Fajish Habib; Mahmoud F Elsaid; Khalid Yacout Salem; Khalid Omer Ibrahim; Khalid Mohamed
Journal:  Qatar Med J       Date:  2014-12-09

2.  Madelung's Disease - Case Series and Treatment by Tumescent Liposuction or Lipectomy.

Authors:  Uwe Wollina; Birgit Heinig
Journal:  Open Access Maced J Med Sci       Date:  2017-07-19

3.  Oculoectodermal syndrome: twentieth described case with new manifestations.

Authors:  Daniela de Almeida Figueiras; Deborah Maria de Castro Barbosa Leal; Valter Kozmhinsky; Marina Coutinho Domingues Querino; Marina Genesia da Silva Regueira; Maria Gabriela de Morais Studart
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896

4.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

5.  Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.

Authors:  Yan Yan; Siyi Zhang; Henghua Zhou; Yixiong Zhou; Yao Fu
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418

6.  Expression of circulating vascular endothelial growth factor-antagonizing cytokines and vascular stabilizing factors prior to and following bypass surgery in patients with moyamoya disease.

Authors:  Jin He; Rong Wang; Dong Zhang; Yan Zhang; Qian Zhang; Jizong Zhao
Journal:  Exp Ther Med       Date:  2014-05-14       Impact factor: 2.447

Review 7.  Western Moyamoya Phenotype: A Scoping Review.

Authors:  Raphael Miller; Santiago R Unda; Ryan Holland; David J Altschul
Journal:  Cureus       Date:  2021-11-22
  7 in total

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