Literature DB >> 17294235

Cerebrovascular disease associated with Aarskog-Scott syndrome.

Michael L Diluna1, Nduka M Amankulor, Michele H Johnson, Murat Gunel.   

Abstract

Faciogenital dysplasia, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, congenital heart defects, low IQ and behavioral problems. Here we describe an unusual presentation of dysplastic carotid artery, basilar artery malformation or occlusion and posterior circulation aneurysm in a 13-year-old male with AAS.

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Year:  2007        PMID: 17294235     DOI: 10.1007/s00234-007-0209-1

Source DB:  PubMed          Journal:  Neuroradiology        ISSN: 0028-3940            Impact factor:   2.995


  50 in total

1.  Atypical case of Aarskog syndrome.

Authors:  R V Mikelsaar; I W Lurie
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis.

Authors:  J Gao; L Estrada; S Cho; R E Ellis; J L Gorski
Journal:  Hum Mol Genet       Date:  2001-12-15       Impact factor: 6.150

Review 3.  Guanine nucleotide exchange factors for the Rho GTPases: a role in human disease?

Authors:  M F Olson
Journal:  J Mol Med (Berl)       Date:  1996-10       Impact factor: 4.599

4.  Metatarsus adductus in two brothers with Aarskog syndrome.

Authors:  D L Hurst
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

5.  The Aarskog syndrome.

Authors:  V Oberiter; M K Lovrencić; L Schmutzer; O Kraus
Journal:  Acta Paediatr Scand       Date:  1980-07

6.  Aarskog's syndrome.

Authors:  G M Maxwell
Journal:  Med J Aust       Date:  1982-07-24       Impact factor: 7.738

7.  Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.

Authors:  L Estrada; E Caron; J L Gorski
Journal:  Hum Mol Genet       Date:  2001-03-01       Impact factor: 6.150

8.  [Aarskog's syndrome: variable manifestations in men and women].

Authors:  Y Franková; M Stloukalová; A Rubín
Journal:  Cesk Pediatr       Date:  1986-09

9.  Intelligence and development in Aarskog syndrome.

Authors:  L J Logie; M E Porteous
Journal:  Arch Dis Child       Date:  1998-10       Impact factor: 3.791

10.  The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.

Authors:  L A Lizcano-Gil; D Garcia-Cruz; J M Cantu; J P Fryns
Journal:  Genet Couns       Date:  1994
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  3 in total

1.  The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells.

Authors:  Thomas Daubon; Roberto Buccione; Elisabeth Génot
Journal:  Mol Cell Biol       Date:  2011-09-12       Impact factor: 4.272

2.  Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.

Authors:  Yihua Ge; Niu Li; Zhigang Wang; Jian Wang; Haiqing Cai
Journal:  Exp Ther Med       Date:  2017-04-05       Impact factor: 2.447

3.  Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.

Authors:  Ulaş Cıkla; Philip F Giampietro; Alireza Sadighi; Mustafa K Başkaya
Journal:  NMC Case Rep J       Date:  2015-02-20
  3 in total

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