|1.||Polycystic Kidney Diseases (Polycystic Kidney Disease)
|5.||Disorders of Sex Development (Intersexuality)
|1.||Chalepakis, Georges: 5 articles (04/2011 - 05/2005)|
|2.||Smyth, Ian: 4 articles (11/2013 - 05/2005)|
|3.||Woolf, Adrian S: 3 articles (11/2012 - 05/2005)|
|4.||Scambler, Peter J: 3 articles (11/2012 - 05/2005)|
|5.||Sekiguchi, Kiyotoshi: 3 articles (05/2012 - 08/2006)|
|6.||Kiyozumi, Daiji: 3 articles (05/2012 - 08/2006)|
|7.||Pavlakis, Evangelos: 3 articles (04/2011 - 10/2007)|
|8.||Zenker, Martin: 2 articles (12/2013 - 02/2007)|
|9.||Wiradjaja, Fenny: 2 articles (11/2013 - 07/2007)|
|10.||Pitera, Jolanta E: 2 articles (11/2012 - 05/2005)|
|1.||Allanson Pantzar McLeod syndromeIBA
|3.||Hereditary renal agenesisIBA
05/01/2013 - "Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. "
11/01/2012 - "Deficiency of the extracellular matrix molecule FRAS1, normally expressed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fras1(bl/bl)) mice. "
11/01/2012 - "Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome."
08/01/1990 - "We report on 3 girls and one boy from 2 sibships with Fraser syndrome and renal agenesis. "
08/01/1990 - "Fraser syndrome with renal agenesis in two consanguineous Turkish families."
|4.||Proteins (Proteins, Gene)IBA
04/01/2011 - "By focusing on the aforementioned data, in this review we will summarize the current knowledge about Fraser syndrome proteins and describe their contribution to basement membrane biology."
08/08/2006 - "Given the close association of Fraser syndrome phenotypes with defective epidermal-dermal interactions, the coordinated assembly of three Fraser syndrome-associated proteins at the basement membrane appears to be instrumental in epidermal-dermal interactions during morphogenetic processes."
08/08/2006 - "Here, we report that all of these proteins are localized to the basement membrane, and that their basement membrane localization is simultaneously impaired in Fraser syndrome model mice. "
10/01/2008 - "Fras1/Frem family of basement membrane proteins has been associated with the "bleb" phenotype in mouse and the Fraser syndrome in man. "
07/01/2007 - "Inactivation of these proteins, or the proteins with which they interact (e.g., Grip1) has also been shown to underlie members of the 'bleb' family of classic mouse mutants which provide a valuable model of Fraser syndrome. "
|5.||Extracellular Matrix ProteinsIBA
01/01/2008 - "The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype."
04/01/2011 - "Recently, a novel group of basement membrane proteins, Fras1 (Fraser syndrome protein (1) and the Fras1-related extracellular matrix proteins Frem1, Frem2 and Frem3, has emerged. "
10/01/2007 - "The Fraser syndrome protein Fras1 and the structurally related proteins Frem1, Frem2 and Frem3 comprise a novel family of extracellular matrix proteins implicated in the structural adhesion of the embryonic epidermis to the underlying mesenchyme. "
08/01/1991 - "A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). "
01/01/2008 - "These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). "
|8.||Proto-Oncogene Proteins c-fos (FRAs)IBA
|9.||Staphylococcal Protein A (A, Protein)IBA
|10.||Mitochondrial DNA (mtDNA)IBA
03/01/2005 - "Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome."
03/01/2005 - "We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. "
01/01/2006 - "We attempted percutaneous fetoscopic and ultrasound-guided tracheal decompression in a hydropic human fetus with CHAOS associated with Fraser syndrome. "
01/01/2006 - "Fetoscopic and ultrasound-guided decompression of the fetal trachea in a human fetus with Fraser syndrome and congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia."