gonadal mosaicism
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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Eliza A. Phillips ◽  
Oana Caluseriu ◽  
Kamilla Schlade-Bartusiak ◽  
Judy Chernos ◽  
D. Ross McLeod ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Gonadal Mosaicism ◽  
Complete Ring

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

2021 ◽  
Author(s):  
Anu Närhi ◽  
Andrea Fernandes ◽  
Sanna Toiviainen‐Salo ◽  
Jessica Harris ◽  
Aideen McInerney‐Leo ◽  
...  
Keyword(s):  
Gonadal Mosaicism

scholarly journals Fetal tuberous sclerosis and diagnosis of paternal gonadal mosaicism

2020 ◽  
Vol 55 (5) ◽  
pp. 691-692
Author(s):  
B. Tutschek ◽  
K. Mayer ◽  
A. Rauch
Keyword(s):  
Tuberous Sclerosis ◽  
Gonadal Mosaicism

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

2020 ◽  
Vol 64 (2) ◽  
pp. 134-139
Author(s):  
Anna Wawrocka ◽  
Joanna Walczak-Sztulpa ◽  
Ewelina Bukowska-Olech ◽  
Aleksander Jamsheer ◽  
Marcin Jaworski ◽  
...  
Keyword(s):  
Anterior Segment ◽  
Pathogenic Variant ◽  
Anterior Segment Dysgenesis ◽  
Gonadal Mosaicism

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder

2020 ◽  
Vol 29 (3) ◽  
pp. 161-164
Author(s):  
Laura A. Cross ◽  
Kirsty McWalter ◽  
Jennifer Keller-Ramey ◽  
Lindsay B. Henderson ◽  
Shivarajan M. Amudhavalli
Keyword(s):  
Neurodevelopmental Disorder ◽  
Gonadal Mosaicism

scholarly journals 1071: Parental somato-gonadal mosaicism is a source of recurrence risk for de novo disorders: A meta-analysis

2020 ◽  
Vol 222 (1) ◽  
pp. S661
Author(s):  
Matthew H. Mossayebi ◽  
Zimeng Gao ◽  
Huda B. Al-Kouatly ◽  
Seth I. Berger
Keyword(s):  
De Novo ◽  
Meta Analysis ◽  
Recurrence Risk ◽  
Gonadal Mosaicism

scholarly journals Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

2019 ◽  
Vol 7 (10) ◽  
Author(s):  
Muhammad M. Rahman ◽  
KM Furkan Uddin ◽  
Nesreen K. Al Jezawi ◽  
Noushad Karuvantevida ◽  
Hosneara Akter ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Gonadal Mosaicism

Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome

2019 ◽  
Author(s):  
Payal P. Khincha ◽  
Kristine Jones ◽  
Kedest Teshome ◽  
Belynda Hicks ◽  
Phuong L. Mai ◽  
...  
Keyword(s):  
Li Fraumeni Syndrome ◽  
Gonadal Mosaicism ◽  
Li Fraumeni

Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome

2019 ◽  
Author(s):  
Payal P. Khincha ◽  
Kristine Jones ◽  
Kedest Teshome ◽  
Belynda Hicks ◽  
Phuong L. Mai ◽  
...  
Keyword(s):  
Li Fraumeni Syndrome ◽  
Gonadal Mosaicism ◽  
Li Fraumeni

Inferring parental gonadal mosaicism in LMNA ‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling

2019 ◽  
Vol 179 (6) ◽  
pp. 1074-1076 ◽  
Author(s):  
Josefina Perez Maturo ◽  
Patricia Vega ◽  
Nancy Medina ◽  
Valeria Salinas ◽  
Micaela Pauni ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
Next Generation ◽  
Gonadal Mosaicism ◽  
Generation Sequencing
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