Works matching Hemophilia and genetics

Results: 425

Genetic variant detection in a South African haemophilia B population.

Published in:

Haemophilia, 2024, v. 30, n. 3, p. 765, doi. 10.1111/hae.14978

By:

Bester, Chené;
Kloppers, Jean F.;
van Rensburg, Walter J. Janse

Publication type:

Article

Accessibility and visibility of genetic testing for haemophilia across Europe: Where do we stand?

Published in:

Haemophilia, 2023, v. 29, n. 1, p. 256, doi. 10.1111/hae.14672

By:

Lannoy, Nathalie;
Hermans, Cedric

Publication type:

Article

Genetic causes of haemophilia in women and girls.

Published in:

Haemophilia, 2021, v. 27, n. 2, p. e164, doi. 10.1111/hae.14186

By:

Miller, Connie H.;
Bean, Christopher J.

Publication type:

Article

Inhibitor epidemiology and genetic‐related risk factors in people with haemophilia from Côte d'Ivoire.

Published in:

Haemophilia, 2020, v. 26, n. 1, p. 79, doi. 10.1111/hae.13902

By:

Lambert, Catherine;
Lannoy, Nathalie;
Meité, N'Dogomo;
Sanogo, Ibrahima;
Eeckhoudt, Stéphane;
Hermans, Cedric

Publication type:

Article

'Just an unfortunate coincidence': children's understanding of haemophilia genetics and inheritance.

Published in:

Haemophilia, 2011, v. 17, n. 3, p. 470, doi. 10.1111/j.1365-2516.2010.02448.x

By:

Khair, K.;
Gibson, F.;
Meerabeau, L.

Publication type:

Article

Attitudes towards and beliefs about genetic testing in the haemophilia community: a qualitative study.

Published in:

Haemophilia, 2007, v. 13, n. 5, p. 633, doi. 10.1111/j.1365-2516.2007.01454.x

By:

THOMAS, S.;
HERBERT, D.;
STREET, A.;
BARNES, C.;
BOAL, J.;
KOMESAROFF, P.

Publication type:

Article

Genetic services available for counselling and prenatal diagnosis of haemophilia.

Published in:

Haemophilia, 1998, v. 4, p. 24, doi. 10.1046/j.1365-2516.1998.0040s2024.x

By:

Peake, I

Publication type:

Article

Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing [Letter].

Published in:

Journal of Multidisciplinary Healthcare, 2024, v. 17, p. 879, doi. 10.2147/JMDH.S464878

By:

Panjaitan, Novaria Sari Dewi;
Maha, Masri Sembiring;
Rinendyaputri, Ratih

Publication type:

Article

A Genetic and Demographic Study of Hemophilia A in Brazil.

Published in:

Human Heredity, 1985, v. 35, n. 4, p. 250, doi. 10.1159/000153554

By:

Alexandre, Claudio O.P.;
Roisenberg, Israel

Publication type:

Article

Genetic Characteristics of Hemophilia A in Chile.

Published in:

Human Heredity, 1980, v. 30, n. 3, p. 161, doi. 10.1159/000153122

By:

Cruz-Coke, Ricardo;
Rivera, Lucia

Publication type:

Article

Molecular genetics of hemophilia A: Clinical perspectives.

Published in:

Egyptian Journal of Medical Human Genetics, 2010, v. 11, n. 2, p. 105, doi. 10.1016/j.ejmhg.2010.10.005

By:

Tantawy, Azza A. G.

Publication type:

Article

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.

Published in:

Haemophilia, 2020, v. 26, n. 3, p. 375, doi. 10.1111/hae.13975

By:

Lannoy, Nathalie;
Hermans, Cedric

Publication type:

Article

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

Published in:

Haemophilia, 2015, v. 21, n. 2, p. 210, doi. 10.1111/hae.12553

By:

Saini, S.;
Hamasaki‐Katagiri, N.;
Pandey, G. S.;
Yanover, C.;
Guelcher, C.;
Simhadri, V. L.;
Dandekar, S.;
Guerrera, M. F.;
Kimchi‐Sarfaty, C.;
Sauna, Z. E.

Publication type:

Article

Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory.

Published in:

Haemophilia, 2014, v. 20, n. 6, p. e384, doi. 10.1111/hae.12517

By:

KESSLER, L.;
ADAMS, R.;
MIGHION, L.;
WALTHER, S.;
GANGULY, A.

Publication type:

Article

Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients.

Published in:

Haemophilia, 2014, v. 20, n. 5, p. 687, doi. 10.1111/hae.12436

By:

LOCHAN, A.;
MACAULAY, S.;
CHEN, W. C.;
MAHLANGU, J. N.;
KRAUSE, A.

Publication type:

Article

F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort.

Published in:

Haemophilia, 2013, v. 19, n. 1, p. 113, doi. 10.1111/hae.12004

By:

Schwarz, J.;
Astermark, J.;
Menius, E. D.;
Carrington, M.;
Donfield, S. M.;
Gomperts, E. D.;
Nelson, G. W.;
Oldenburg, J.;
Pavlova, A.;
Shapiro, A. D.;
Winkler, C. A.;
Berntorp, E.

Publication type:

Article

Genetic polymorphism of IL28B in hepatitis C-infected haemophilia patients in Israel.

Published in:

Haemophilia, 2013, v. 19, n. 1, p. 150, doi. 10.1111/j.1365-2516.2012.02932.x

By:

Maor, Y.;
Morali, G.;
Bashari, D.;
Pénaranda, G.;
Schapiro, J. M.;
Martinowitz, U.;
Halfon, P.

Publication type:

Article

Accurate tracking genetic markers in haemophilia linkage analysis: a matter beyond scientific priority.

Published in:

Haemophilia, 2012, v. 18, n. 4, p. e359, doi. 10.1111/j.1365-2516.2012.02859.x

By:

Machado, F. B.;
Medina-Acosta, E.

Publication type:

Article

A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A.

Published in:

Haemophilia, 2012, v. 18, n. 3, p. 452, doi. 10.1111/j.1365-2516.2011.02670.x

By:

HE, Z. H.;
CHEN, S. F.;
CHEN, J.;
JIANG, W. Y.

Publication type:

Article

Quality and easy availability of medical support overwhelmingly determines the attitude and belief towards genetic testing in haemophilia.

Published in:

2008

By:

Ghosh, K.;
Shelly, S.

Publication type:

Letter

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Published in:

Haemophilia, 2006, v. 12, p. 82, doi. 10.1111/j.1365-2516.2006.01263.x

By:

Peyvandi, F.;
Jayandharan, G.;
Chandy, M.;
Srivastava, A.;
Nakaya, S. M.;
Johnson, M. J.;
Thompson, A. R.;
Goodeve, A.;
Garagiola, I.;
Lavoretano, S.;
Menegatti, M.;
Palla, R.;
Spreafico, M.;
Tagliabue, L.;
Asselta, R.;
Duga, S.;
Mannucci, P. M.

Publication type:

Article

A rapid multifluorescent polymerase chain reaction for genetic counselling in Chinese haemophilia A families.

Published in:

Haemophilia, 2006, v. 12, n. 1, p. 62, doi. 10.1111/j.1365-2516.2005.01162.x

By:

Fang, Y.;
Wang, X.-F.;
Dai, J.;
Wang, H.-L.

Publication type:

Article

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network.

Published in:

Haemophilia, 2005, v. 11, n. 4, p. 387, doi. 10.1111/j.1365-2516.2005.01111.x

By:

Keeney, S.;
Mitchell, M.;
Goodeve, A.

Publication type:

Article

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network.

Published in:

Haemophilia, 2005, v. 11, n. 4, p. 398, doi. 10.1111/j.1365-2516.2005.01112.x

By:

Mitchell, M.;
Keeney, S.;
Goodeve, A.

Publication type:

Article

Haemophilia Inhibitor Genetics Study – evaluation of a model for studies of complex diseases using linkage and association methods.

Published in:

Haemophilia, 2005, v. 11, n. 4, p. 427, doi. 10.1111/j.1365-2516.2005.01119.x

By:

Berntorp, E.;
Astermark, J.;
Donfield, S. M.;
Nelson, G. W.;
Oldenburg, J.;
Shapiro, A. D.;
Dimichele, D. M.;
Ewenstein, B. M.;
Gomperts, E. D.;
Winkler, C. A.

Publication type:

Article

A framework for genetic service provision for haemophilia and other inherited bleeding disorders.

Published in:

2005

By:

Ludlam, C. A.;
Pasi, K. J.;
Bolton-Maggs, P.;
Collins, P. W.;
Cumming, A. M.;
Dolan, G.;
Fryer, A.;
Harrington, C.;
Hill, F. G. H.;
Peake, I. R.;
Perry, D. J.;
Skirton, H.;
Smith, M.

Publication type:

Other

Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia.

Published in:

Haemophilia, 2004, v. 10, p. 126, doi. 10.1111/j.1365-2516.2004.01042.x

By:

Lavery, S.

Publication type:

Article

Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India.

Published in:

Haemophilia, 2004, v. 10, n. 5, p. 553, doi. 10.1111/j.1365-2516.2004.00908.x

By:

Jayandharan, G.;
Shaji, R. V.;
George, B.;
Chandy, M.;
Srivastava, A.

Publication type:

Article

Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families.

Published in:

Haemophilia, 2002, v. 8, n. 5, p. 730, doi. 10.1046/j.1365-2516.2002.00657_2.x

By:

Bicocchi, M. P.;
Pasino, M.;
Bottini, F.;
Lanza, T.;
Mori, P. G.;
Acquila, M.

Publication type:

Article

Ethical issues in the genetic aspects of haemophilia.

Published in:

Haemophilia, 2002, v. 8, n. 3, p. 268, doi. 10.1046/j.1365-2516.2002.00605.x

By:

SHENFIELD, F

Publication type:

Article

Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B.

Published in:

Haemophilia, 1999, v. 5, n. 2, p. 77, doi. 10.1046/j.1365-2516.1999.00288.x

By:

MILLER, RIVA;
Miller, Riva

Publication type:

Article

Genetic service available for counselling and prenatal diagnosis of haemophilia.

Published in:

Haemophilia, 1998, v. 4, p. 24, doi. 10.1046/j.1365-2516.1998.0040s2024.x

By:

Peake

Publication type:

Article

Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China.

Published in:

Turkish Journal of Hematology, 2014, v. 31, n. 3, p. 226, doi. 10.4274/tjh.2013.0275

By:

Dong-Hua Cao;
Xiao-Li Liu;
Kai Mu;
Xiang-Wei Ma;
Jing-Li Sun;
Xiao-Zhong Bai;
Chang-Kun Lin;
Chun-Lian Jin

Publication type:

Article

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.

Published in:

2015

By:

Fernández, Raquel M;
Peciña, Ana;
Sánchez, Beatriz;
Lozano-Arana, Maria Dolores;
García-Lozano, Juan Carlos;
Pérez-Garrido, Rosario;
Núñez, Ramiro;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

journal article

Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing.

Published in:

Journal of Multidisciplinary Healthcare, 2024, v. 17, p. 711, doi. 10.2147/JMDH.S430984

By:

Zhao, Hua;
Geng, Wen-Jing;
Wu, Rui-Hong;
Li, Zhen-Zhen

Publication type:

Article

Genetic analysis in a female manifesting haemophilia B.

Published in:

1994

By:

Palmer, S.;
Standen, G. R.;
Yates, P.;
Oakhill, A.

Publication type:

journal article

Genetic Risk Factors for Inhibitor Development in Hemophilia A.

Published in:

Russian Journal of Genetics, 2021, v. 57, n. 8, p. 867, doi. 10.1134/S1022795421080111

By:

Pshenichnikova, O. S.;
Surin, V. L.

Publication type:

Article

Genetic Inversions among Hemophilia A Patients from Macedonia and Bulgaria.

Published in:

Acta Haematologica, 2009, v. 120, n. 3, p. 192, doi. 10.1159/000187648

By:

Stefanovska, Emilija Sukarova;
ejanova, Violeta;
Tchakarova, Petrana;
Petkov, Georgi;
Efremov, Georgi D.

Publication type:

Article

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.618

By:

Boardman, Felicity K.;
Hale, Rachel;
Gohel, Raksha;
Young, Philip J.

Publication type:

Article

Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia A.

Published in:

PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218258

By:

Bachelet, Delphine;
Albert, Thilo;
Mbogning, Cyprien;
Hässler, Signe;
Zhang, Yuan;
Schultze-Strasser, Stephan;
Repessé, Yohann;
Rayes, Julie;
Pavlova, Anna;
Pezeshkpoor, Behnaz;
Liphardt, Kerstin;
Davidson, Julie E.;
Hincelin-Méry, Agnès;
Dönnes, Pierre;
Lacroix-Desmazes, Sébastien;
Königs, Christoph;
Oldenburg, Johannes;
Broët, Philippe;
null, null

Publication type:

Article

Understanding of Genetic Inheritance among Xhosa-Speaking Caretakers of Children with Hemophilia.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 5, p. 726, doi. 10.1007/s10897-012-9495-9

By:

Solomon, Gabriele;
Greenberg, Jacquie;
Futter, Merle;
Vivian, Lauraine;
Penn, Claire

Publication type:

Article

Genetic-Epidemiologic Study of Haemophilia A and B in Hungary.

Published in:

Human Heredity, 1990, v. 40, n. 1, p. 29, doi. 10.1159/000153898

By:

István, L.;
Czeizel, A.;
Kerényi, M.;
Tóth, A.M.;
Domby, E.

Publication type:

Article

Genetic Aspects of Hemophilias A and B in Rio Grande do Sul, Brazil.

Published in:

Human Heredity, 1971, v. 21, n. 2, p. 97, doi. 10.1159/000152390

By:

Roisenberg, R.;
Morton, N.E.

Publication type:

Article

Genetics and Epigenetics in Acquired Hemophilia A: From Bench to Bedside.

Published in:

Current Issues in Molecular Biology, 2024, v. 46, n. 6, p. 5147, doi. 10.3390/cimb46060309

By:

Evangelidis, Nikolaos;
Kotsiou, Nikolaos;
Evangelidis, Paschalis;
Alevizopoulos, Vlasios I.;
Dermitzakis, Iasonas;
Chissan, Sofia;
Vakalopoulou, Sofia;
Gavriilaki, Eleni

Publication type:

Article

In Vitro Conditioning of Adipose-Derived Mesenchymal Stem Cells by the Endothelial Microenvironment: Modeling Cell Responsiveness towards Non-Genetic Correction of Haemophilia A.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7282, doi. 10.3390/ijms23137282

By:

Barbon, Silvia;
Stocco, Elena;
Rajendran, Senthilkumar;
Zardo, Lorena;
Macchi, Veronica;
Grandi, Claudio;
Tagariello, Giuseppe;
Porzionato, Andrea;
Radossi, Paolo;
De Caro, Raffaele;
Parnigotto, Pier Paolo

Publication type:

Article

Mutational analysis of hemophilia B in Russia: Molecular-genetic study.

Published in:

Russian Journal of Genetics, 2016, v. 52, n. 4, p. 409, doi. 10.1134/S1022795416040116

By:

Surin, V.;
Demidova, E.;
Selivanova, D.;
Luchinina, Yu.;
Salomashkina, V.;
Pshenichnikova, O.;
Likhacheva, E.

Publication type:

Article

Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients.

Published in:

Pediatric Hematology & Oncology, 2019, v. 36, n. 1, p. 28, doi. 10.1080/08880018.2019.1585503

By:

Naderi, Niloofar;
Yousefi, Hossein;
Mollazadeh, Sahar;
Seyed Mikaeili, Afsaneh;
Keshavarz Norouzpour, Masoumeh;
Jazebi, Mohammad;
Moazezi Nekooi Asl, Seyedeh Somayeh;
Namvar, Ali;
Azizi Saraji, Alireza;
Agi, Elnaz;
Bolhassani, Azam

Publication type:

Article

The Clinical Genetics of Hemophilia B (Factor IX Deficiency).

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 445, doi. 10.2147/TACG.S288256

By:

Miller, Connie H

Publication type:

Article

Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 939, doi. 10.1002/ajmg.c.31854

By:

González‐Ramos, Isaura‐Araceli;
Mantilla‐Capacho, Johanna‐Milena;
Luna‐Záizar, Hilda;
Mundo‐Ayala, Jessica‐Noemi;
Lara‐Navarro, Irving‐Jair;
Ornelas‐Ricardo, Diana;
González Alcázar, José‐Ángel;
Evangelista‐Castro, Natalia;
Jaloma‐Cruz, Ana Rebeca

Publication type:

Article

Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion.

Published in:

Thrombosis Journal, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12959-023-00552-w

By:

Nguyen, Minh Tam;
Nguyen, Thanh Tung;
Nguyen, Duy Bac;
Nguyen, Thi Mai;
Nguyen, Kim Ngan;
Ngo, Van Nhat Minh;
Nguyen, Van Dieu;
Tran, Ngoc Anh;
Lian, Mulias;
Tan, Arnold S. C.;
Chong, Samuel S.;
Dang, Tien Truong

Publication type:

Article