Publications:

Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD).

International Journal Of Molecular And Cellular Medicine

Alehabib, Elham E; Jamshidi, Javad J; Ghaedi, Hamid H; Emamalizadeh, Babak B; Andarva, Monavvar M; Daftarian, Narsis N; Rezaei Kanavi, Mozhgan M; Mohammadi Torbati, Peyman P; Espandar, Goldis G; Alinaghi, Somayeh S; Johari, Amir Hossein AH; Saghally, Mansoor M; Mohajerani, Fatemeh F; Darvish, Hossein H

Publication Date: 2017

Variant appearance in text: TACSTD2: Tyr184Cys

PubMed Link: 29988226

Variant Present in the following documents:

• Main text
• ijmcm-6-204.pdf

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: TACSTD2: Y184C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Molecular Vision

Paliwal, Preeti P; Gupta, Jaya J; Tandon, Radhika R; Sharma, Namrata N; Titiyal, Jeewan S JS; Kashyap, Seema S; Sen, Seema S; Kaur, Punit P; Dube, Divya D; Sharma, Arundhati A; Vajpayee, Rasik B RB

Publication Date: 2010-04-28

Variant appearance in text: TACSTD2: 551A>G; Tyr184Cys

PubMed Link: 20454699

Variant Present in the following documents:

• Main text

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Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.

Molecular Vision

Yamada, Naoyuki N; Kawamoto, Koji K; Morishige, Naoyuki N; Chikama, Tai-ichiro T; Nishida, Teruo T; Nishioka, Mitsuaki M; Okayama, Naoko N; Hinoda, Yuji Y

Publication Date: 2009-05-15

Variant appearance in text: M1S1: Y184C

PubMed Link: 19461933

Variant Present in the following documents:

• Main text
• mv-v15-974.pdf

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: M1S1: 551A>G

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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