scholarly journals Mosaic Variegated Aneuploidy Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Mosaic Variegated Aneuploidy

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

2020 ◽  
Vol 63 (11) ◽  
pp. 104044
Author(s):  
Tania Dery ◽  
Nicolas Chatron ◽  
Amerh Alqahtani ◽  
Michel Pugeat ◽  
Marianne Till ◽  
...  
Keyword(s):  
Pathogenic Variants ◽  
Mosaic Variegated Aneuploidy

Polycystic ovary syndrome: A new phenotype in mosaic variegated aneuploidy syndrome?

2017 ◽  
Vol 78 (1) ◽  
pp. 58-61
Author(s):  
Fatma Chaker ◽  
Mélika Chihaoui ◽  
Meriem Yazidi ◽  
Ons Rejeb ◽  
Hedia Slimane ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Ovary Syndrome ◽  
Mosaic Variegated Aneuploidy

scholarly journals Molecular Causes for BUBR1 Dysfunction in the Human Cancer Predisposition Syndrome Mosaic Variegated Aneuploidy

2010 ◽  
Vol 70 (12) ◽  
pp. 4891-4900 ◽  
Author(s):  
Saskia J.E. Suijkerbuijk ◽  
Maria H.J. van Osch ◽  
Frank L. Bos ◽  
Sandra Hanks ◽  
Nazneen Rahman ◽  
...  
Keyword(s):  
Human Cancer ◽  
Cancer Predisposition ◽  
Cancer Predisposition Syndrome ◽  
Mosaic Variegated Aneuploidy

scholarly journals Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

2011 ◽  
Vol 43 (6) ◽  
pp. 527-529 ◽  
Author(s):  
Katie Snape ◽  
Sandra Hanks ◽  
Elise Ruark ◽  
Patricio Barros-Núñez ◽  
Anna Elliott ◽  
...  
Keyword(s):  
Mosaic Variegated Aneuploidy

scholarly journals Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

2018 ◽  
Vol 128 (8) ◽  
pp. 3517-3534 ◽  
Author(s):  
Khaled Aziz ◽  
Cynthia J. Sieben ◽  
Karthik B. Jeganathan ◽  
Masakazu Hamada ◽  
Brian A. Davies ◽  
...  
Keyword(s):  
Tumor Suppression ◽  
Mosaic Variegated Aneuploidy

Rhabdomyosarcoma with premature chromatid separation–mosaic variegated aneuploidy syndrome: Reduced‐intensity chemotherapy

2019 ◽  
Author(s):  
Masahiko Nishitani‐Isa ◽  
Yoshimi Hiraumi ◽  
Yoshinobu Nishida ◽  
Ikuya Usami ◽  
Toshiro Maihara
Keyword(s):  
Mosaic Variegated Aneuploidy ◽  
Reduced Intensity
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