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Journal Articles

The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events

Yohann Jourdy, PhD PharmD, Mathilde Fretigny, PharmD, Fanny Lassalle, PharmD, David Lillicrap, MD, Claude Negrier, Patrice Bouvagnet, MD, Christine Vinciguerra, PharmD

Blood (2018) 132 (Supplement 1): 2489.

https://doi.org/10.1182/blood-2018-99-111791

Published: 2018

Journal Articles

Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar

Mohamed A. Yassin, MBBS, MSc, CABM, FACP, Nader I Al-Dewik, BSc, MSc, PhD

Blood (2016) 128 (22): 5520.

https://doi.org/10.1182/blood.V128.22.5520.5520

Published: 2016

Journal Articles

A Large-Scale Prospective Cohort Study on Factor XIII Deficiency in Southeast of Iran

Majid Naderi, MD, Akbar Dorgalaleh, PhD, Eshghi Peyman, MD, Fatemeh Malek, MD, Mehran Karimi, MD

Blood (2016) 128 (22): 209.

https://doi.org/10.1182/blood.V128.22.209.209

Published: 2016

Journal Articles

Founder Effects of a Recurrent Splicing Mutation IVS9-1G>C of the UNC13D Gene in Korean Patients with Familial Hemophagocytic Lymphohistiocytosis

Joon Sup Song, MD, PhD, Hee Jin Kim, MD, PhD, Ja Young Seo, MD, Sun Hee Kim, MD, PhD, Ki O Lee, In Ae Park, Mee Jeong Lee, MD, PhD, Hong Hoe Koo, MD, PhD, Hyo Seop Ahn, MD, PhD, Chuhl Joo Lyu, MD, PhD, Ji Yoon Kim, M.D., Eun Sil Park, MD, In Sang Jeon, MD, PhD, Young Tak Lim, MD, PhD, Bo Eun Kim, MD, Kyung Nam Koh, MD, Ho Joon Im, MD, PhD, Jong Jin Seo, MD, PhD

Blood (2011) 118 (21): 4730.

https://doi.org/10.1182/blood.V118.21.4730.4730

Published: 2011

Journal Articles

Familial Hemophagocytic Lymphohistiocytosis Type IV: Possible Founder Effect in Syntaxin 11 Gene Common Mutation Endemic to Turkish Population

Gunay Balta, Umran Caliskan, Elif Guler, Turkan Patiroglu, Ahmet F. Oner, Aytemiz Gurgey

Blood (2008) 112 (11): 1259.

https://doi.org/10.1182/blood.V112.11.1259.1259

Published: 2008

Journal Articles

Establishment of an International Registry of Patients with Inherited FXIII Deficiency.

Vytautas Ivaskevicius, MD, Rainer Seitz, MD, PhD, Hans P. Kohler, MD, PhD, Laszlo Muszbek, PhD, Robert A.S. Ariens, PhD, Erhard Seifried, MD, PhD, Akitada Ichinose, PhD, Diane J. Nugent, MD, PhD, Johannes Oldenburg, MD, PhD

Blood (2007) 110 (11): 2149.

https://doi.org/10.1182/blood.V110.11.2149.2149

Published: 2007

Journal Articles

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

Adrien Mohl, MD, Tamás Masszi, MD, PhD, Eszter Nagy, PhD, Tobias Obser, Florian Oyen, Krisztina Sallai, Imre Bodo, MD, PhD, Reinhard Schneppenheim, MD, PhD

Blood (2006) 108 (11): 1013.

https://doi.org/10.1182/blood.V108.11.1013.1013

Published: 2006

Journal Articles

Pyrimidine 5′ Nucleotidase-1 (P5N-1) Deficiency Associated with 4 Novel Mutations in 5 New Turkish Families: Genotype-Phenotype Analysis.

Gunay Balta, PhD, Aytemiz Gurgey, MD, Fatma Gumruk, MD, Yahya Buyukasik, MD, Meral Beksac, MD, Cigdem Altay, MD

Blood (2006) 108 (11): 3743.

https://doi.org/10.1182/blood.V108.11.3743.3743

Published: 2006

Journal Articles

Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation

Shiori Koseki, Masayoshi Souri, Shinichiro Koga, Mitsunori Yamakawa, Tsutomu Shichishima, Yukio Maruyama, Fumio Yanai, Akitada Ichinose

Blood (2001) 97 (9): 2667–2672.

https://doi.org/10.1182/blood.V97.9.2667

Published: 2001

Journal Articles

Founder Effect in Protein S-Deficient Families Sharing a Hot Spot Mutation in PROS1

Bente Damm Andersen, Marie Luise Bisgaard, Stefan Mustafa, Christine Mannhalter

Blood (1999) 93 (2): 759.

https://doi.org/10.1182/blood.V93.2.759

Published: 1999

Journal Articles

The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin

Hava Peretz, Avital Mulai, Sali Usher, Ariella Zivelin, Avihai Segal, Zahavi Weisman, Moshe Mittelman, Hannah Lupo, Naomi Lanir, Benjamin Brenner, Ofer Shpilberg, Uri Seligsohn

Blood (1997) 90 (7): 2654–2659.

https://doi.org/10.1182/blood.V90.7.2654

Published: 1997

NARROW

The Highly Prevalent Deletions in F8 Intron 13 Found in French Mild Haemophilia a Patients Result of Both Founder Effect and Recurrent De Novo Events

Clinical Exome Sequencing Unravels New Disease Causing Mutations in Myeloproliferative Neoplasms (MPNs): A Pilot Study in Patients from the State of Qatar

A Large-Scale Prospective Cohort Study on Factor XIII Deficiency in Southeast of Iran

Founder Effects of a Recurrent Splicing Mutation IVS9-1G>C of the UNC13D Gene in Korean Patients with Familial Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type IV: Possible Founder Effect in Syntaxin 11 Gene Common Mutation Endemic to Turkish Population

Establishment of an International Registry of Patients with Inherited FXIII Deficiency.

Novel Large Deletion Is the Most Frequent Cause of Type 3 von Willebrand Disease in Hungary.

Pyrimidine 5′ Nucleotidase-1 (P5N-1) Deficiency Associated with 4 Novel Mutations in 5 New Turkish Families: Genotype-Phenotype Analysis.

Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation

Founder Effect in Protein S-Deficient Families Sharing a Hot Spot Mutation in PROS1

The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin

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American Society of Hematology

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