Literature DB >> 1538725

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

D F Smeets1, B C Hamel, M R Nelen, H J Smeets, J H Bollen, A P Smits, H H Ropers, B A van Oost.   

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Year:  1992        PMID: 1538725     DOI: 10.1056/NEJM199203193261206

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  24 in total

1.  Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Authors:  B Horsthemke; A Maat-Kievit; E Sleegers; A van den Ouweland; K Buiting; C Lich; P Mollevanger; G Beverstock; G Gillessen-Kaesbach; G Schwanitz
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

Review 2.  From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

Authors:  Beverly S Emanuel; Sulagna C Saitta
Journal:  Nat Rev Genet       Date:  2007-11       Impact factor: 53.242

3.  Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.

Authors:  Dhanya Yesodharan; M V Thampi; Teena Koshy; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2013-11-28       Impact factor: 1.967

4.  Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Authors:  A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 5.  Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Authors:  A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

6.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

7.  Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.

Authors:  A Jauch; L Robson; A Smith
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

Review 8.  Development of the human hypothalamus.

Authors:  D F Swaab
Journal:  Neurochem Res       Date:  1995-05       Impact factor: 3.996

9.  Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.

Authors:  A Smith; Z M Deng; R Beran; T Woodage; R J Trent
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

10.  De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Authors:  D T Bonthron; S J Smith; J Fantes; C M Gosden
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

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