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Page 1
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p3 …
We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditar …
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
Momtazmanesh S, Rayzan E, Shahkarami S, Rohlfs M, Klein C, Rezaei N. Momtazmanesh S, et al. BMC Med Genet. 2020 Jun 30;21(1):140. doi: 10.1186/s12881-020-01075-1. BMC Med Genet. 2020. PMID: 32605629 Free PMC article. Review.
To date, more than 150 mutations of VPS13B have been reported in over 200 Cohen syndrome patients. Missense or nonsense mutations are the most common mutations. ...CONCLUSION: We reported a novel homozygous frameshift variant in VPS13B (LRG_351t1: c.7095del; p.Ser23 …
To date, more than 150 mutations of VPS13B have been reported in over 200 Cohen syndrome patients. Missense or nonsense mutati …
The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?
Kondo I, Nagataki S, Miyagi N. Kondo I, et al. Am J Med Genet. 1990 Sep;37(1):109-13. doi: 10.1002/ajmg.1320370126. Am J Med Genet. 1990. PMID: 2240027 Review.
A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. ...However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. ...
A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. ...However, an assoc …
Cohen syndrome: essential features, natural history, and heterogeneity.
Kivitie-Kallio S, Norio R. Kivitie-Kallio S, et al. Am J Med Genet. 2001 Aug 1;102(2):125-35. doi: 10.1002/1096-8628(20010801)102:2<125::aid-ajmg1439>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11477603 Review.
This article elucidates the clinical picture in Cohen syndrome (MIM 216550), an autosomal recessive disorder that is overrepresented in Finland. ...Heterogeneity probably exists among other patients claimed to have Cohen syndrome....
This article elucidates the clinical picture in Cohen syndrome (MIM 216550), an autosomal recessive disorder that is overrepre …
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.
Kivitie-Kallio S, Eronen M, Lipsanen-Nyman M, Marttinen E, Norio R. Kivitie-Kallio S, et al. Clin Genet. 1999 Jul;56(1):41-50. doi: 10.1034/j.1399-0004.1999.560106.x. Clin Genet. 1999. PMID: 10466416 Review.
Cohen syndrome (MIM no. 216550) is an autosomal recessive disorder with a typical clinical picture. ...
Cohen syndrome (MIM no. 216550) is an autosomal recessive disorder with a typical clinical picture. ...
[Myopia in systemic disorders].
Mrugacz M, Rydzanicz M, Frajdenberg A, Podfigurna-Musielak M, Gajecka M. Mrugacz M, et al. Klin Oczna. 2009;111(1-3):84-8. Klin Oczna. 2009. PMID: 19517854 Review. Polish.
We have described the prevalence and the symptoms of systemic disorders associated with myopia, including: Stickler syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Weill-Marchesani syndrome, homocystinuria, McCune-Albright syndrome, Kniest syndrome, Down syndrome, Prader-Willi …
We have described the prevalence and the symptoms of systemic disorders associated with myopia, including: Stickler syndrome, Marfan syndrom …
Clinical variability of genetic isolates of Cohen syndrome.
Douzgou S, Petersen MB. Douzgou S, et al. Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Clin Genet. 2011. PMID: 21418059 Review.
Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental disorder that has been attributed to mutations in the COH1 gene in at least 200 patients of diverse ethnic background so far. ...
Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental disorder that has been attributed to mutati …
Large animals as potential models of human mental and behavioral disorders.
Danek M, Danek J, Araszkiewicz A. Danek M, et al. Psychiatr Pol. 2017 Dec 30;51(6):1009-1027. doi: 10.12740/PP/74304. Epub 2017 Dec 30. Psychiatr Pol. 2017. PMID: 29432500 Free article. Review. English, Polish.
The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (A …
The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Disease …
Prader-Willi and other syndromes associated with obesity and mental retardation.
Gunay-Aygun M, Cassidy SB, Nicholls RD. Gunay-Aygun M, et al. Behav Genet. 1997 Jul;27(4):307-24. doi: 10.1023/a:1025683829856. Behav Genet. 1997. PMID: 9519559 Review.
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some …
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bar …
28 results