|1.||Park, Woong-Yang: 2 articles (01/2015 - 03/2013)|
|2.||Robertson, Stephen P: 2 articles (01/2012 - 01/2007)|
|3.||Cho, Tae-Joon: 1 article (01/2015)|
|4.||Han, Mi Seon: 1 article (01/2015)|
|5.||Cheong, Hae Il: 1 article (01/2015)|
|6.||Ko, Jung Min: 1 article (01/2015)|
|7.||Kim, Ashley: 1 article (10/2014)|
|8.||Power, Patricia: 1 article (10/2014)|
|9.||Popescu, Oana-Eugenia: 1 article (10/2014)|
|10.||Martin, Brett M: 1 article (10/2014)|
|1.||Hajdu-Cheney Syndrome (Multicentric Osteolysis)
03/01/2013 - "It is debatable whether Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. "
03/01/2013 - "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome."
01/01/2012 - "Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome."
01/01/2009 - "This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). "
01/01/2007 - "The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. "
|2.||Polycystic Kidney Diseases (Polycystic Kidney Disease)
10/01/2014 - "Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. "
11/01/2011 - "Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, and normal intelligence. "
08/06/1998 - "In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. "
01/01/2012 - "Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. "
|3.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
11/01/1993 - "Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders."
01/01/2007 - "Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another."
01/01/2007 - "One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. "
01/01/2007 - "We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome. "