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Quoted phrase not found in phrase index: "Prader-Willi syndrome due to translocation"
Page 1
Comparative molecular approaches in Prader-Willi syndrome diagnosis.
Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G. Botezatu A, et al. Gene. 2016 Jan 10;575(2 Pt 1):353-8. doi: 10.1016/j.gene.2015.08.058. Epub 2015 Sep 1. Gene. 2016. PMID: 26335514 Clinical Trial.
Prader-Willi and Angelman syndromes are two distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. ...The aim of our study was to compare a new molecular approach based on …
Prader-Willi and Angelman syndromes are two distinct neurogenetic disorders caused by chromosomal deletions, uniparental disom …
The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations.
Therman E, Susman B, Denniston C. Therman E, et al. Ann Hum Genet. 1989 Jan;53(1):49-65. doi: 10.1111/j.1469-1809.1989.tb01121.x. Ann Hum Genet. 1989. PMID: 2658738 Review.
However, since a preferred chromosome appears to associate at random with the others, this phenomenon should not add to the nonrandomness of the RT. ...The infertility may be caused by a small deletion of 14q, as is often the case in 15q in Prader-Willi sy …
However, since a preferred chromosome appears to associate at random with the others, this phenomenon should not add to the nonrandom …
Genetic and hereditary aspects of childhood obesity.
Farooqi IS. Farooqi IS. Best Pract Res Clin Endocrinol Metab. 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. Best Pract Res Clin Endocrinol Metab. 2005. PMID: 16150380 Review.
Genetic factors are involved in the regulation of body weight and in determining individual responses to environmental factors such as diet and exercise. ...
Genetic factors are involved in the regulation of body weight and in determining individual responses to environmental factors such a …
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.
Grugni G, Crinò A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifirò G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iannì F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G; Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Grugni G, et al. Am J Med Genet A. 2008 Apr 1;146A(7):861-72. doi: 10.1002/ajmg.a.32133. Am J Med Genet A. 2008. PMID: 18203198
Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. ...Two hundred thirty-eight patients had del15, 104 had UPD …
Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to …
The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment.
Soni S, Whittington J, Holland AJ, Webb T, Maina E, Boer H, Clarke D. Soni S, et al. J Intellect Disabil Res. 2007 Jan;51(Pt 1):32-42. doi: 10.1111/j.1365-2788.2006.00895.x. J Intellect Disabil Res. 2007. PMID: 17181601
BACKGROUND: This study is part of a larger UK-wide study investigating psychiatric illness in people with Prader-Willi syndrome (PWS), and describes the longitudinal aspect of psychiatric illness, in particular psychotic illness, and examines the use and role …
BACKGROUND: This study is part of a larger UK-wide study investigating psychiatric illness in people with Prader-Willi synd …
Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome.
Rivera H, Zuffardi O, Gargantini L. Rivera H, et al. Am J Med Genet. 1990 Nov;37(3):311-7. doi: 10.1002/ajmg.1320370304. Am J Med Genet. 1990. PMID: 2260556 Review.
We analyzed 33 cases of Prader-Willi syndrome (PWS) (including 2 personal observations) with translocations of 15q1----qter onto the terminals of different, apparently whole chromosomes. ...One balanced and 2 unbalanced translocations were jumpi …
We analyzed 33 cases of Prader-Willi syndrome (PWS) (including 2 personal observations) with translocations of 1 …
Effect of growth hormone treatment on insulin action in adipocytes from children with Prader-Willi syndrome.
Kamel A, Norgren S, Lindgren AC, Luthman H, Arner P, Marcus C. Kamel A, et al. Eur J Endocrinol. 1998 May;138(5):510-6. doi: 10.1530/eje.0.1380510. Eur J Endocrinol. 1998. PMID: 9625361
OBJECTIVE: To study the effect of growth hormone (GH) treatment (2-4 months) on insulin action in adipocytes isolated from children with Prader-Willi syndrome (PWS), in whom GH deficiency appears to be a primary defect. We investigated the complex effects of …
OBJECTIVE: To study the effect of growth hormone (GH) treatment (2-4 months) on insulin action in adipocytes isolated from children with …
Genetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American women.
Chan KH, Chacko SA, Song Y, Cho M, Eaton CB, Wu WC, Liu S. Chan KH, et al. J Nutr. 2015 Mar;145(3):418-24. doi: 10.3945/jn.114.203489. Epub 2015 Jan 7. J Nutr. 2015. PMID: 25733456 Free PMC article.
Among HA women, several variants were significantly associated with T2D risk, including rs10861279 in solute carrier family 41 (anion exchanger), member 2 (SLC41A2) (OR: 0.54; FDR-adjusted P = 0.04), rs7174119 in nonimprinted in Prader-Willi/Angelman syndrome …
Among HA women, several variants were significantly associated with T2D risk, including rs10861279 in solute carrier family 41 (anion exchan …
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, Lev D. Michelson M, et al. Eur J Paediatr Neurol. 2011 May;15(3):230-3. doi: 10.1016/j.ejpn.2010.11.001. Epub 2010 Dec 8. Eur J Paediatr Neurol. 2011. PMID: 21145272
Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions and supernumerary marker chromosome of an inverted duplication. The large marker 15, that contains the Prader-Willi syndrom …
Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions …
Robertsonian translocations and abnormal phenotypes. Groupe de Cytogeneticiens Francais.
[No authors listed] [No authors listed] Ann Genet. 1989;32(1):5-9. Ann Genet. 1989. PMID: 2665630 Clinical Trial.
The Groupe de Cytogeneticiens Francais collected 32 cases of Robertsonian translocations with an abnormal phenotype of which 21 t(13q;14q)'s. Nineteen were inherited, four had had occurred de novo; and nine were of unknown origin. ...Some suggested partial 13 trisomy (hexa …
The Groupe de Cytogeneticiens Francais collected 32 cases of Robertsonian translocations with an abnormal phenotype of which 21 t(13q …
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