Literature DB >> 19248040

Variations in fetal phenotype in Prader-Willi syndrome.

Guttorm Haugen, Arild Rønnestad, Mette Kroken.   

Abstract

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Mesh：

Year:  2009        PMID： 19248040     DOI： 10.1002/pd.2207

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  4 in total

1.  Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Authors:  Dan Mejlachowicz; Flora Nolent; Jérome Maluenda; Hanitra Ranjatoelina-Randrianaivo; Fabienne Giuliano; Ivo Gut; Damien Sternberg; Annie Laquerrière; Judith Melki
Journal:  Am J Hum Genet       Date:  2015-09-10       Impact factor: 11.025

2.  The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Authors:  Michael D Fountain; Emmelien Aten; Megan T Cho; Jane Juusola; Magdalena A Walkiewicz; Joseph W Ray; Fan Xia; Yaping Yang; Brett H Graham; Carlos A Bacino; Lorraine Potocki; Arie van Haeringen; Claudia A L Ruivenkamp; Pedro Mancias; Hope Northrup; Mary K Kukolich; Marjan M Weiss; Conny M A van Ravenswaaij-Arts; Inge B Mathijssen; Sebastien Levesque; Naomi Meeks; Jill A Rosenfeld; Danielle Lemke; Ada Hamosh; Suzanne K Lewis; Simone Race; Laura L Stewart; Beverly Hay; Andrea M Lewis; Rita L Guerreiro; Jose T Bras; Marcia P Martins; Gerarda Derksen-Lubsen; Els Peeters; Connie Stumpel; Sander Stegmann; Levinus A Bok; Gijs W E Santen; Christian P Schaaf
Journal:  Genet Med       Date:  2016-05-19       Impact factor: 8.822

3.  Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

Authors:  Filiz Mine Çizmecioğlu; Jeremy Huw Jones; Wendy Forsyth Paterson; Sakina Kherra; Mariam Kourime; Ruth McGowan; M. Guftar Shaikh; Malcolm Donaldson
Journal:  J Clin Res Pediatr Endocrinol       Date:  2018-03-19

4.  Schaaf-Yang syndrome overview: Report of 78 individuals.

Authors:  John McCarthy; Philip J Lupo; Erin Kovar; Megan Rech; Bret Bostwick; Daryl Scott; Katerina Kraft; Tony Roscioli; Joel Charrow; Samantha A Schrier Vergano; Edward Lose; Robert Smiegel; Yves Lacassie; Christian P Schaaf
Journal:  Am J Med Genet A       Date:  2018-10-10       Impact factor: 2.802
  4 in total

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