|1.||Horn, Denise: 3 articles (02/2015 - 07/2004)|
|2.||Hennies, Hans Christian: 3 articles (02/2015 - 07/2004)|
|3.||Seifert, Wenke: 3 articles (02/2015 - 07/2004)|
|4.||Katzaki, Eleni: 3 articles (10/2010 - 01/2007)|
|5.||Renieri, Alessandra: 3 articles (10/2010 - 01/2007)|
|6.||Clayton-Smith, J: 3 articles (09/2009 - 12/2002)|
|7.||Chandler, K E: 3 articles (09/2009 - 12/2002)|
|8.||Kivitie-Kallio, Satu: 3 articles (07/2004 - 05/2002)|
|9.||Norio, Reijo: 3 articles (07/2004 - 05/2002)|
|10.||Kühnisch, Jirko: 2 articles (02/2015 - 02/2009)|
|1.||Autistic Disorder (Autism)
12/01/2014 - "Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism."
12/01/2014 - "As proof of principle, we apply the proposed methods to VPS13B, a gene mutated in the rare neurodevelopmental disorder called Cohen syndrome, and recently reported with recessive variants in autism. "
02/01/2003 - "Although autistic-type behaviour was observed, an increased prevalence of autism in Cohen syndrome was not confirmed."
10/01/2001 - "Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. "
02/01/2005 - "This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. "
|3.||Mental Retardation (Idiocy)
11/01/2009 - "Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment."
01/01/2008 - "Cohen syndrome is an autosomal recessive, multiple congenital anomalies/mental retardation (MCA/MR) syndrome, caused by a mutation in the COH1 gen, localized on chromosome 8q22. "
02/01/2003 - "In a cohort of Finnish Cohen syndrome patients, severe mental retardation and non-maladaptive behaviour were described. "
02/01/2003 - "Cohen syndrome is a rare autosomal recessive syndrome with a distinctive clinical phenotype that includes mental retardation and a characteristic sociable disposition. "
08/01/2002 - "Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550) is a rare, autosomal-recessive inherited disorder with mental retardation and a typical appearance. "
08/01/2013 - "Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. "
04/01/1995 - "The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and limb anomalies. "
04/01/1984 - "Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?"
08/01/2013 - "The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. "
01/01/2004 - "The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities. "
08/01/2002 - "Reduced head size (microcephaly), short philtrum and small cranial base dimensions are essential features in Cohen syndrome. "
06/05/2000 - "Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity."
12/01/1998 - "MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly."
06/01/1994 - "Cohen syndrome is an autosomal recessive disorder characterized by mental and motor retardation, short stature, microcephaly, several dysmorphic features, major ocular symptoms and granulocytopenia. "
02/06/2015 - "Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene COH1 (VPS13B). "
|2.||Albright's hereditary osteodystrophy
|3.||Granulocyte Colony-Stimulating Factor (G-CSF)
|8.||Adenylosuccinate lyase deficiency
|9.||Lujan Fryns syndrome
|10.||Growth mental deficiency syndrome of Myhre
|1.||Dental Esthetics (Cosmetic Dentistry)