Literature DB >> 29389715

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Karolina E Matuszewska1,2, Magdalena Badura-Stronka1,2, Robert Śmigiel3, Magdalena Cabała3, Anna Biernacka4,5, Joanna Kosinska4, Malgorzata Rydzanicz4, Anna Winczewska-Wiktor6, Maria Sasiadek7, Anna Latos-Bieleńska1,2, Tomasz Żemojtel8, Rafal Płoski4.   

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Year:  2018        PMID： 29389715     DOI： 10.1097/MCD.0000000000000212

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  5 in total

1.  A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

Authors:  Bing Xiao; Xing Ji; Wei Wei; Yan Hui; Yu Sun
Journal:  Mol Syndromol       Date:  2019-07-05

2.  MAGEL2-related disorders: A study and case series.

Authors:  Jameson Patak; James Gilfert; Melissa Byler; Vamsee Neerukonda; Isabelle Thiffault; Laura Cross; Shivarajan Amudhavalli; Marta Pacio-Miguez; Maria Palomares-Bralo; Sixto Garcia-Minaur; Fernando Santos-Simarro; Zoe Powis; Wendy Alcaraz; Sha Tang; Julie Jurgens; Brenda Barry; Eleina England; Elizabeth Engle; Jonathon Hess; Robert R Lebel
Journal:  Clin Genet       Date:  2019-08-22       Impact factor: 4.438

3.  A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

Authors:  Antonio D Hidalgo-Santos; Maria Del Carmen DeMingo-Alemany; Francisca Moreno-Macián; Mónica Roselló; Carmen Orellana; Francisco Martínez; Alfonso Caro-Llopis; Sara León-Cariñena; Miguel Tomás-Vila
Journal:  Int J Endocrinol Metab       Date:  2018-07-01

4.  Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.

Authors:  Hyunji Ahn; Go Hun Seo; Arum Oh; Yena Lee; Changwon Keum; Sun Hee Heo; Taeho Kim; Jeongmin Choi; Gu-Hwan Kim; Tae-Sung Ko; Mi-Sun Yum; Beom Hee Lee; In Hee Choi
Journal:  Medicine (Baltimore)       Date:  2020-12-18       Impact factor: 1.817

5.  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
  5 in total

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