Cargando…

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia (GT) and Bernard–Soulier syndrome. Patie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Naz, Arshi, Jamal, Muhammad Younus, Amanat, Samina, Din ujjan, Ikram, Najmuddin, Akber, Patel, Humayun, Raziq, Fazle, Ahmed, Nisar, Imran, Ayisha, Shamsi, Tahir Sultan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383974/ https://www.ncbi.nlm.nih.gov/pubmed/28388959 http://dx.doi.org/10.1186/s13023-017-0620-6

Ejemplares similares

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan
por: Anwar, Nida, et al.
Publicado: (2021)

TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan
por: Shaikh, Abdul Rehman Khalil, et al.
Publicado: (2021)

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
por: Naz, Arshi, et al.
Publicado: (2017)

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
por: Naz, Arshi, et al.
Publicado: (2019)

Autosomal Recessive Inheritance: Cystic Fibrosis
por: Goldstein, D. Yitzchak, et al.
Publicado: (2017)

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3
por: Siddiqi, Muhammad Younus Jamal, et al.
Publicado: (2023)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
por: Majumder, Poulami, et al.
Publicado: (2013)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
por: Rosenberg, Leon E.
Publicado: (1972)

Mendelian Inheritance in Man, Catalogues of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes
por: Seashore, Margretta R.
Publicado: (1979)

Evaluation of efficacy of serological methods for detection of HCV infection in blood donors: A single centre experience
por: Naz, Arshi, et al.
Publicado: (2018)

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
por: Ullah, Muhammad Ikram
Publicado: (2022)

Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus
por: Barrett, Matthew J., et al.
Publicado: (2017)

Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
por: Morovvati, Saeid, et al.
Publicado: (2012)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report
por: Ibrahim, Rahaf, et al.
Publicado: (2021)

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
por: Habib, Faiza, et al.
Publicado: (2023)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. 9th Edition
por: Seashore, Margretta R.
Publicado: (1991)

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. 7th Edition
por: Seashore, Margretta R.
Publicado: (1987)

Seroprevalence of transfusion transmitted infections among different blood group donors at Blood Bank LUMHS, Hyderabad
por: Memon, Faheem Ahmed, et al.
Publicado: (2017)

Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan
por: Mukry, Samina Naz, et al.
Publicado: (2022)

Importance of immature platelet fraction as predictor of immune thrombocytopenic purpura
por: Naz, Arshi, et al.
Publicado: (2016)

Laboratory Diagnosis of Malaria: Comparison of Manual and Automated Diagnostic Tests
por: Mukry, Samina Naz, et al.
Publicado: (2017)

Two sisters reveal autosomal recessive inheritance of epidermodysplasia verruciformis: a case report
por: Yoshida, Rui, et al.
Publicado: (2014)

Cell Population Data–Driven Acute Promyelocytic Leukemia Flagging Through Artificial Neural Network Predictive Modeling
por: Haider, Rana Zeeshan, et al.
Publicado: (2019)

Genetic heterogeneity of primary open-angle glaucoma in Pakistan
por: Yaqoob Shahani, Muhammad, et al.
Publicado: (2023)

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
por: Chulpanova, Daria S., et al.
Publicado: (2022)

Inherited Bleeding Disorders—Experience of a Not-for-Profit Organization in Pakistan
por: Hussain, Shabneez, et al.
Publicado: (2018)

Usefulness of convalescent plasma transfusion for the treatment of severely ill COVID-19 patients in Pakistan
por: Khan, Tehmina Nafees Sonia, et al.
Publicado: (2021)

Role of Helicobacter pylori Eradication Therapy on Platelet Recovery in Chronic Immune Thrombocytopenic Purpura
por: Sheema, Khan, et al.
Publicado: (2017)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2018)

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy
por: Brunetti, Barbara, et al.
Publicado: (2023)

Mutation of ATF6 causes autosomal recessive achromatopsia
por: Ansar, Muhammad, et al.
Publicado: (2015)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

Autosomal Recessive Polycystic Kidney Disease
por: Salati, Sajad Ahmad
Publicado: (2014)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

Autosomal Recessive Polycystic Kidney Disease
por: Hafer, Ashley S., et al.
Publicado: (2017)

Autosomal recessive bestrophinopathy with macular hole
por: Hirawat, Raj Shri, et al.
Publicado: (2020)

Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8iu2fj43r29chbrqks26dceum1