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gonadal mosaicism
Recently Published Documents
TOTAL DOCUMENTS
77
(FIVE YEARS 10)
H-INDEX
15
(FIVE YEARS 1)
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Latest Documents
Most Cited Documents
Contributed Authors
Related Sources
Related Keywords
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism
Clinical Dysmorphology
◽
10.1097/mcd.0000000000000382
◽
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
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A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case
American Journal of Medical Genetics Part A
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10.1002/ajmg.a.62257
◽
2021
◽
Author(s):
Anu Närhi
◽
Andrea Fernandes
◽
Sanna Toiviainen‐Salo
◽
Jessica Harris
◽
Aideen McInerney‐Leo
◽
...
Keyword(s):
Gonadal Mosaicism
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Fetal tuberous sclerosis and diagnosis of paternal gonadal mosaicism
Ultrasound in Obstetrics and Gynecology
◽
10.1002/uog.21880
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2020
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Vol 55
(5)
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pp. 691-692
Author(s):
B. Tutschek
◽
K. Mayer
◽
A. Rauch
Keyword(s):
Tuberous Sclerosis
◽
Gonadal Mosaicism
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Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
Japanese Journal of Ophthalmology
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10.1007/s10384-020-00715-6
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2020
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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
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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder
Clinical Dysmorphology
◽
10.1097/mcd.0000000000000316
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2020
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Vol 29
(3)
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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
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1071: Parental somato-gonadal mosaicism is a source of recurrence risk for de novo disorders: A meta-analysis
American Journal of Obstetrics and Gynecology
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10.1016/j.ajog.2019.11.1084
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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
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Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.954
◽
2019
◽
Vol 7
(10)
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Cited By ~ 1
Author(s):
Muhammad M. Rahman
◽
KM Furkan Uddin
◽
Nesreen K. Al Jezawi
◽
Noushad Karuvantevida
◽
Hosneara Akter
◽
...
Keyword(s):
Intellectual Disability
◽
De Novo
◽
Gonadal Mosaicism
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Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome
10.1158/1538-7445.sabcs18-4159
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2019
◽
Author(s):
Payal P. Khincha
◽
Kristine Jones
◽
Kedest Teshome
◽
Belynda Hicks
◽
Phuong L. Mai
◽
...
Keyword(s):
Li Fraumeni Syndrome
◽
Gonadal Mosaicism
◽
Li Fraumeni
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Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome
10.1158/1538-7445.am2019-4159
◽
2019
◽
Author(s):
Payal P. Khincha
◽
Kristine Jones
◽
Kedest Teshome
◽
Belynda Hicks
◽
Phuong L. Mai
◽
...
Keyword(s):
Li Fraumeni Syndrome
◽
Gonadal Mosaicism
◽
Li Fraumeni
Download Full-text
Inferring parental gonadal mosaicism in LMNA ‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.61135
◽
2019
◽
Vol 179
(6)
◽
pp. 1074-1076
◽
Cited By ~ 1
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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