Publications:

---

Pro-haemostatic effect of DDAVP is partially derived through non-classical (CD14dim /CD16++ ) monocytes residing the spleen.

Journal Of Cellular And Molecular Medicine

Salarilak, Laleh L; Pirdel, Zahra Z; Dinmohammadi, Hossein H; Rokni-Zadeh, Hassan H; Lavend'homme, Renaud R; Karimi, Mehran M; Jacquemin, Marc M; Shahani, Tina T

Publication Date: 2022-12-07

Variant appearance in text: FVIII: 6682C>T

PubMed Link: 36479816

Variant Present in the following documents:

• Main text
• JCMM-27-30.pdf

View BVdb publication page

---

Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine

Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N

Publication Date: 2021-07-16

Variant appearance in text: rs137852355

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

View BVdb publication page

---

Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal Of Thrombosis And Haemostasis : Jth

Shinozawa, Keiko K; Amano, Kagehiro K; Hagiwara, Takeshi T; Bingo, Masato M; Chikasawa, Yushi Y; Inaba, Hiroshi H; Kinai, Ei E; Fukutake, Katsuyuki K

Publication Date: 2021-06

Variant appearance in text: F8: 6682C>T

PubMed Link: 33760382

Variant Present in the following documents:

• Main text
• JTH-19-1493.pdf

View BVdb publication page

---

Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.

Research And Practice In Thrombosis And Haemostasis

Manderstedt, Eric E; Nilsson, Rosanna R; Ljung, Rolf R; Lind-Halldén, Christina C; Astermark, Jan J; Halldén, Christer C

Publication Date: 2020-10

Variant appearance in text: F8: 6682C>T

PubMed Link: 33134778

Variant Present in the following documents:

• RTH2-4-1121.pdf

View BVdb publication page

---

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F

Publication Date: 2020-08-28

Variant appearance in text: F8: R2228*

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

View BVdb publication page

---

Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.

Mediterranean Journal Of Hematology And Infectious Diseases

Zahari, Maimiza M; Sulaiman, Siti Aishah SA; Othman, Zulhabri Z; Ayob, Yasmin Y; Karim, Faraizah Abd FA; Jamal, Rahman R

Publication Date: 2018

Variant appearance in text: F8: 6682C>T; R2228*

PubMed Link: 30210749

Variant Present in the following documents:

• Main text
• mjhid-10-1-e2018056.pdf

View BVdb publication page

---

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y

Publication Date: 2018-01

Variant appearance in text: FVIII: 6682C>T

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

View BVdb publication page

---