Literature DB >> 12598399

Birth prevalence of Prader-Willi syndrome in Australia.

A Smith1, J Egan, G Ridley, E Haan, P Montgomery, K Williams, E Elliott.   

Abstract

This is the first population based study to estimate the birth prevalence of DNA proven Prader-Willi syndrome. Thirty infants were reported to the Australian Paediatric Surveillance Unit between 1998 and 2000, a prevalence of 4 per 100,000 live births or approximately 1/25,000 live births per annum.

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Year:  2003        PMID： 12598399      PMCID： PMC1719461          DOI： 10.1136/adc.88.3.263

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  25 in total

1.  Beyond counting cases: public health impacts of national Paediatric Surveillance Units.

Authors:  D Grenier; E J Elliott; Y Zurynski; R Rodrigues Pereira; M Preece; R Lynn; R von Kries; H Zimmermann; N P Dickson; D Virella
Journal:  Arch Dis Child       Date:  2006-12-11       Impact factor: 3.791

2.  Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment.

Authors:  T Cadoudal; M Buléon; C Sengenès; G Diene; F Desneulin; C Molinas; S Eddiry; F Conte-Auriol; D Daviaud; P G P Martin; A Bouloumié; J-P Salles; M Tauber; P Valet
Journal:  Int J Obes (Lond)       Date:  2014-01-10       Impact factor: 5.095

3.  Neural correlates of self-injurious behavior in Prader-Willi syndrome.

Authors:  Megan Klabunde; Manish Saggar; Kristin M Hustyi; Jennifer L Hammond; Allan L Reiss; Scott S Hall
Journal:  Hum Brain Mapp       Date:  2015-07-14       Impact factor: 5.038

4.  Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.

Authors:  Dong-Kyu Jin
Journal:  Korean J Pediatr       Date:  2012-07-17

5.  Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.

Authors:  June-Anne Gold; Ranim Mahmoud; Suzanne B Cassidy; Virginia Kimonis
Journal:  Am J Med Genet A       Date:  2018-05       Impact factor: 2.802

Review 6.  Cardiac autonomic regulation in autism and Fragile X syndrome: a review.

Authors:  Jessica Klusek; Jane E Roberts; Molly Losh
Journal:  Psychol Bull       Date:  2014-11-24       Impact factor: 17.737

7.  Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly.

Authors:  Margje Sinnema; Kees E P van Roozendaal; Marian A Maaskant; Hubert J M Smeets; John J M Engelen; Nieke Jonker-Houben; Constance T R M Schrander-Stumpel; Leopold M G Curfs
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

8.  Sudden cardiac death in a child affected by Prader-Willi syndrome.

Authors:  Cristoforo Pomara; Stefano D'Errico; Irene Riezzo; Gian Pio de Cillis; Vittorio Fineschi
Journal:  Int J Legal Med       Date:  2005-03-05       Impact factor: 2.686

9.  Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.

Authors:  Lisa C Burnett; Charles A LeDuc; Carlos R Sulsona; Daniel Paull; Richard Rausch; Sanaa Eddiry; Jayne F Martin Carli; Michael V Morabito; Alicja A Skowronski; Gabriela Hubner; Matthew Zimmer; Liheng Wang; Robert Day; Brynn Levy; Ilene Fennoy; Beatrice Dubern; Christine Poitou; Karine Clement; Merlin G Butler; Michael Rosenbaum; Jean Pierre Salles; Maithe Tauber; Daniel J Driscoll; Dieter Egli; Rudolph L Leibel
Journal:  J Clin Invest       Date:  2016-12-12       Impact factor: 14.808

10.  Scoliosis in patients with Prader Willi Syndrome - comparisons of conservative and surgical treatment.

Authors:  Hans-Rudolf Weiss; Deborah Goodall
Journal:  Scoliosis       Date:  2009-05-06
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