Literature DB >> 19809481

Prader-Willi and Angelman syndromes: genetic counseling.

Cristina Camprubí, Maria Dolors Coll, Elisabeth Gabau, Míriam Guitart.   

Abstract

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Year:  2009        PMID： 19809481      PMCID： PMC2987187          DOI： 10.1038/ejhg.2009.170

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

Review 1.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

2.  A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype.

Authors:  A Rego; M D Coll; M Regal; M Guitart; T Escudero; R V García-Mayor
Journal:  Horm Res       Date:  1997

3.  An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

Authors:  H Kokkonen; J Leisti
Journal:  Hum Genet       Date:  2000-07       Impact factor: 4.132

Review 4.  Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.

Authors:  Thomas Liehr; Elke Brude; Gabriele Gillessen-Kaesbach; Rainer König; Kristin Mrasek; Ferdinand von Eggeling; Heike Starke
Journal:  Eur J Med Genet       Date:  2005-02-17       Impact factor: 2.708

5.  [Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?].

Authors:  M C Fernández-Novoa; M T Vargas; J L Vizmanos; C Garnacho; J J Martínez; P Sanz; D Lluch
Journal:  Rev Neurol       Date:  2001 May 16-31       Impact factor: 0.870

6.  Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

Authors:  Cristina Camprubí; Maria Dolors Coll; Sergi Villatoro; Elisabeth Gabau; Amine Kamli; Maria Jesus Martínez; David Poyatos; Miriam Guitart
Journal:  Eur J Med Genet       Date:  2006-10-10       Impact factor: 2.708

7.  Prader-Willi syndrome.

Authors:  Suzanne B Cassidy; Daniel J Driscoll
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

8.  Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics.

Authors:  Thomas Liehr; Anja Weise
Journal:  Int J Mol Med       Date:  2007-05       Impact factor: 4.101

9.  Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

Authors:  Karin Buiting; Stephanie Gross; Christina Lich; Gabriele Gillessen-Kaesbach; Osman el-Maarri; Bernhard Horsthemke
Journal:  Am J Hum Genet       Date:  2003-01-23       Impact factor: 11.025

10.  Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

Authors:  W M A Verhoeven; B B A de Vries; S J H Duffels; J I M Egger; C Noordam; S Tuinier
Journal:  Psychopathology       Date:  2007-07-24       Impact factor: 1.944
  10 in total
  2 in total

1.  Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.

Authors:  Javier Sánchez; Ana Peciña; Olga Alonso-Luengo; Antonio González-Meneses; Rocío Vázquez; Guillermo Antiñolo; Salud Borrego
Journal:  Case Rep Genet       Date:  2014-10-14

Review 2.  Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.

Authors:  Chong Kun Cheon
Journal:  Ann Pediatr Endocrinol Metab       Date:  2016-09-30
  2 in total

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