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Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I
Human Molecular Genetics
◽
10.1093/hmg/1.5.315
◽
1992
◽
Vol 1
(5)
◽
pp. 315-317
◽
Cited By ~ 23
Author(s):
Kazuhiro Tsukamoto
◽
Takaya Tohma
◽
Tohru Ohta
◽
Kazuhiro Yamakawa
◽
Yoshimitsu Fukushima
◽
...
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Inversion Breakpoint
Download Full-text
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Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations
Gene
◽
10.1016/j.gene.2015.08.023
◽
2015
◽
Vol 574
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◽
pp. 302-307
◽
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...
Keyword(s):
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◽
Syndrome Type
◽
Waardenburg Syndrome
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Waardenburg syndrome type I
Indian Journal of Paediatric Dermatology
◽
10.4103/ijpd.ijpd_37_17
◽
2017
◽
Vol 0
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◽
pp. 0
Author(s):
VirendraN Sehgal
◽
Pardeep Venkatesh
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)
Molecular and Cellular Probes
◽
10.1006/mcpr.1997.0101
◽
1997
◽
Vol 11
(3)
◽
pp. 233-236
◽
Cited By ~ 7
Author(s):
Ali Attaie
◽
Eugene Kim
◽
Edward R. Wilcox
◽
Anil K. Lalwani
Keyword(s):
Splice Site
◽
Splice Site Mutation
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Site Mutation
◽
Generation Family
Download Full-text
Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3
American Journal of Medical Genetics
◽
10.1002/ajmg.1320460534
◽
1993
◽
Vol 46
(5)
◽
pp. 608-608
◽
Cited By ~ 3
Author(s):
Satoshi Ishikiriyama
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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Genetic characterization of a patient with an unusual presentation of Waardenburg syndrome Type 4 and retinoblastoma
Pediatric Blood & Cancer
◽
10.1002/pbc.28553
◽
2020
◽
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(1)
◽
Author(s):
Thennarasu Shanthini
◽
Sekaran Balaji
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◽
Ayyasamy Vanniarajan
Keyword(s):
Genetic Characterization
◽
Unusual Presentation
◽
Syndrome Type
◽
Waardenburg Syndrome
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Waardenburg Syndrome Type I
The Indian Journal of Pediatrics
◽
10.1007/s12098-019-03170-5
◽
2020
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◽
pp. 244-244
Author(s):
Vykuntaraju K. Gowda
◽
Sahana Srinivas
◽
Varunvenkat M. Srinivasan
Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)
American Journal of Medical Genetics
◽
10.1002/ajmg.1320440533
◽
1992
◽
Vol 44
(5)
◽
pp. 699-700
◽
Cited By ~ 14
Author(s):
Susan J. Kirkpatrick
◽
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◽
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◽
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Keyword(s):
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
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Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I
Ophthalmic Genetics
◽
10.1076/1381-6810(200003)21:1;1-i;ft025
◽
2000
◽
Vol 21
(1)
◽
pp. 25-28
Author(s):
Vihra N. Sotirova
◽
Tayebeh Rezaie
◽
M.R. Khoshsorour
◽
Mansoor Sarfarazi
Keyword(s):
Novel Mutation
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Paired Domain
◽
Iranian Family
Download Full-text
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
Molecular Genetics & Genomic Medicine
◽
10.1002/mgg3.798
◽
2019
◽
Vol 7
(7)
◽
Cited By ~ 2
Author(s):
Jing Ma
◽
Ken Lin
◽
Hong‐chao Jiang
◽
Yanli Yang
◽
Yu Zhang
◽
...
Keyword(s):
Novel Mutation
◽
Chinese Family
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
◽
Pax3 Gene
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Waardenburg Syndrome Type I: Report of Cases With Dental Phenotypes and Genetic Analysis
Oral Surgery Oral Medicine Oral Pathology and Oral Radiology
◽
10.1016/j.oooo.2015.02.025
◽
2015
◽
Vol 120
(2)
◽
pp. e18
Author(s):
Edimilson Martins de Freitas
◽
Luciano Sólia Nasser
◽
Sibele Nascimento de Aquino
◽
Ricardo Della Coletta
◽
Lívia Maris Paranaíba
◽
...
Keyword(s):
Genetic Analysis
◽
Type I
◽
Syndrome Type
◽
Waardenburg Syndrome
Download Full-text
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