Publications:

Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance.

Frontiers In Neurology

Imamura, Takeaki T; Omura, Takaki T; Sasaki, Nobuo N; Arino, Satoshi S; Nohara, Haruna H; Saito, Akira A; Ichinose, Maki M; Yamaguchi, Kazumasa K; Kojima, Naoki N; Inagawa, Hiroshi H; Takahashi, Katsutoshi K; Unno, Toshiyuki T; Morisaki, Hiroko H; Ishikawa, Osamu O; Yoshikawa, Gakushi G; Okada, Yasusei Y

Publication Date: 2022

Variant appearance in text: FBN1: 677C>T

PubMed Link: 35911880

Variant Present in the following documents:

• fneur-13-928803.pdf

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First Report of the East-Central South African Genotype of Chikungunya Virus in Rio de Janeiro, Brazil.

Plos Currents

Souza, Thiara Manuele Alves TM; Azeredo, Elzinandes Leal EL; Badolato-Corrêa, Jessica J; Damasco, Paulo Vieira PV; Santos, Carla C; Petitinga-Paiva, Fabienne F; Nunes, Priscila Conrado Guerra PC; Barbosa, Luciana Santos LS; Cipitelli, Márcio Costa MC; Chouin-Carneiro, Thais T; Faria, Nieli Rodrigues Costa NR; Nogueira, Rita Maria Ribeiro RM; de Bruycker-Nogueira, Fernanda F; Dos Santos, Flavia Barreto FB

Publication Date: 2017-02-14

Variant appearance in text: FBN: A226V

PubMed Link: 28286701

Variant Present in the following documents:

• Main text

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M

Publication Date: 2017-09

Variant appearance in text: FBN1: 677C>T

PubMed Link: 28252636

Variant Present in the following documents:

• NIHMS853380-supplement-supp_table1.xlsx, sheet 1

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Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned.

Genome Medicine

Maasz, Anita A; Melegh, Bela B

Publication Date: 2010-09-13

Variant appearance in text: FBN1: 677C>T

PubMed Link: 20831840

Variant Present in the following documents:

• Main text
• gm185.pdf

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