|1.||Matsumoto, Naomichi: 3 articles (09/2014 - 06/2013)|
|2.||Tsurusaki, Yoshinori: 3 articles (09/2014 - 06/2013)|
|3.||Miyake, Noriko: 3 articles (09/2014 - 06/2013)|
|4.||Wieczorek, Dagmar: 2 articles (06/2015 - 09/2014)|
|5.||Isidor, B: 2 articles (06/2014 - 02/2014)|
|6.||Ohashi, Hirofumi: 2 articles (01/2014 - 06/2013)|
|7.||Saitsu, Hirotomo: 2 articles (01/2014 - 06/2013)|
|8.||Miyatake, Satoko: 2 articles (01/2014 - 06/2013)|
|9.||Vulto-van Silfhout, Anneke T: 2 articles (01/2014 - 11/2013)|
|10.||Okamoto, Nobuhiko: 2 articles (01/2014 - 06/2013)|
01/01/2014 - "This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth nail hypoplasia associated with Coffin-Siris syndrome. "
10/01/1996 - "Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. "
09/01/2014 - "Coffin-Siris syndrome (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by intellectual disability, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails. "
05/01/1990 - "We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. "
01/01/2009 - "We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. "
|2.||Neurocutaneous Syndromes (Phakomatoses)
|3.||Mental Retardation (Idiocy)
01/01/2015 - "These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. "
09/01/2014 - "In younger girls there seems to be a striking phenotypic overlap with Coffin-Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. "
07/01/2014 - "Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. "
01/01/2014 - "ARID1B mutations have been identified as the predominant cause of Coffin-Siris syndrome and have also been shown to be a frequent cause of nonsyndromic intellectual disability. "
06/15/2006 - "Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. "
09/01/2010 - "Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. "
11/01/2007 - "Coffin-Siris syndrome is a rare genetic disease characterized by coarse facial features, sparse scalp hair, hirsutism, hypoplasia of the distal phalanges, hypoplastic nail in the fifth digit, and mental retardation and delayed growth evident in both weight and height. "
07/31/2000 - "Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. "
09/05/1997 - "Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. "
01/01/2010 - "In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. "
03/01/1983 - "The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. "
|1.||Nicolaides Baraitser syndrome
|3.||RNA (Ribonucleic Acid)
|4.||Dandy Walker variant
|5.||Lennox-Gastaut type Epileptic encephalopathy
|2.||Mechanical Ventilators (Ventilator)