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Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. [electronic resource] by
- Luzón-Toro, Berta
- Bleda, Marta
- Navarro, Elena
- García-Alonso, Luz
- Ruiz-Ferrer, Macarena
- Medina, Ignacio
- Martín-Sánchez, Marta
- Gonzalez, Cristina Y
- Fernández, Raquel M
- Torroglosa, Ana
- Antiñolo, Guillermo
- Dopazo, Joaquin
- Borrego, Salud
Producer: 20160425
In:
BMC medical genomics vol. 8
Availability: No items available.
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29.
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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. [electronic resource] by
- Calucho, Maite
- Bernal, Sara
- Alías, Laura
- March, Francesca
- Venceslá, Adoración
- Rodríguez-Álvarez, Francisco J
- Aller, Elena
- Fernández, Raquel M
- Borrego, Salud
- Millán, José M
- Hernández-Chico, Concepción
- Cuscó, Ivon
- Fuentes-Prior, Pablo
- Tizzano, Eduardo F
Producer: 20191021
In:
Neuromuscular disorders : NMD vol. 28
Availability: No items available.
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30.
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Pathways systematically associated to Hirschsprung's disease. [electronic resource] by
- Fernández, Raquel M
- Bleda, Marta
- Luzón-Toro, Berta
- García-Alonso, Luz
- Arnold, Stacey
- Sribudiani, Yunia
- Besmond, Claude
- Lantieri, Francesca
- Doan, Betty
- Ceccherini, Isabella
- Lyonnet, Stanislas
- Hofstra, Robert Mw
- Chakravarti, Aravinda
- Antiñolo, Guillermo
- Dopazo, Joaquín
- Borrego, Salud
Producer: 20140717
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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31.
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Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. [electronic resource] by
- Jannot, Anne-Sophie
- Amiel, Jeanne
- Pelet, Anna
- Lantieri, Francesca
- Fernandez, Raquel M
- Verheij, Joke B G M
- Garcia-Barcelo, Merce
- Arnold, Stacey
- Ceccherini, Isabella
- Borrego, Salud
- Hofstra, Robert M W
- Tam, Paul K H
- Munnich, Arnold
- Chakravarti, Aravinda
- Clerget-Darpoux, Françoise
- Lyonnet, Stanislas
Producer: 20121226
In:
European journal of human genetics : EJHG vol. 20
Availability: No items available.
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32.
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Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. [electronic resource] by
- Luzón-Toro, Berta
- Gui, Hongsheng
- Ruiz-Ferrer, Macarena
- Sze-Man Tang, Clara
- Fernández, Raquel M
- Sham, Pak-Chung
- Torroglosa, Ana
- Kwong-Hang Tam, Paul
- Espino-Paisán, Laura
- Cherny, Stacey S
- Bleda, Marta
- Enguix-Riego, María Del Valle
- Dopazo, Joaquín
- Antiñolo, Guillermo
- García-Barceló, María-Mercé
- Borrego, Salud
Producer: 20160909
In:
Scientific reports vol. 5
Availability: No items available.
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33.
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Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. [electronic resource] by
- Alves, Maria M
- Sribudiani, Yunia
- Brouwer, Rutger W W
- Amiel, Jeanne
- Antiñolo, Guillermo
- Borrego, Salud
- Ceccherini, Isabella
- Chakravarti, Aravinda
- Fernández, Raquel M
- Garcia-Barcelo, Maria-Mercè
- Griseri, Paola
- Lyonnet, Stanislas
- Tam, Paul K
- van Ijcken, Wilfred F J
- Eggen, Bart J L
- te Meerman, Gerard J
- Hofstra, Robert M W
Producer: 20131125
In:
Developmental biology vol. 382
Availability: No items available.
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34.
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Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. [electronic resource] by
- Jiang, Qian
- Arnold, Stacey
- Heanue, Tiffany
- Kilambi, Krishna Praneeth
- Doan, Betty
- Kapoor, Ashish
- Ling, Albee Yun
- Sosa, Maria X
- Guy, Moltu
- Jiang, Qingguang
- Burzynski, Grzegorz
- West, Kristen
- Bessling, Seneca
- Griseri, Paola
- Amiel, Jeanne
- Fernandez, Raquel M
- Verheij, Joke B G M
- Hofstra, Robert M W
- Borrego, Salud
- Lyonnet, Stanislas
- Ceccherini, Isabella
- Gray, Jeffrey J
- Pachnis, Vassilis
- McCallion, Andrew S
- Chakravarti, Aravinda
Producer: 20150529
In:
American journal of human genetics vol. 96
Availability: No items available.
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35.
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Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. [electronic resource] by
- Emison, Eileen Sproat
- Garcia-Barcelo, Merce
- Grice, Elizabeth A
- Lantieri, Francesca
- Amiel, Jeanne
- Burzynski, Grzegorz
- Fernandez, Raquel M
- Hao, Li
- Kashuk, Carl
- West, Kristen
- Miao, Xiaoping
- Tam, Paul K H
- Griseri, Paola
- Ceccherini, Isabella
- Pelet, Anna
- Jannot, Anne-Sophie
- de Pontual, Loic
- Henrion-Caude, Alexandra
- Lyonnet, Stanislas
- Verheij, Joke B G M
- Hofstra, Robert M W
- Antiñolo, Guillermo
- Borrego, Salud
- McCallion, Andrew S
- Chakravarti, Aravinda
Producer: 20100728
In:
American journal of human genetics vol. 87
Availability: No items available.
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36.
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Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. [electronic resource] by
- Tang, Clara Sze-Man
- Gui, Hongsheng
- Kapoor, Ashish
- Kim, Jeong-Hyun
- Luzón-Toro, Berta
- Pelet, Anna
- Burzynski, Grzegorz
- Lantieri, Francesca
- So, Man-Ting
- Berrios, Courtney
- Shin, Hyoung Doo
- Fernández, Raquel M
- Le, Thuy-Linh
- Verheij, Joke B G M
- Matera, Ivana
- Cherny, Stacey S
- Nandakumar, Priyanka
- Cheong, Hyun Sub
- Antiñolo, Guillermo
- Amiel, Jeanne
- Seo, Jeong-Meen
- Kim, Dae-Yeon
- Oh, Jung-Tak
- Lyonnet, Stanislas
- Borrego, Salud
- Ceccherini, Isabella
- Hofstra, Robert M W
- Chakravarti, Aravinda
- Kim, Hyun-Young
- Sham, Pak Chung
- Tam, Paul K H
- Garcia-Barceló, Maria-Mercè
Producer: 20170724
In:
Human molecular genetics vol. 25
Availability: No items available.
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