Results 121 to 130 of about 27,023 (191)

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy. [PDF]

Mol Cytogenet
Turtinen T, Isohanni P, Anttonen AK, Huhti L, Pylkäs K, Tikkanen M, Hakonen AH, Strang-Karlsson S, Mantere T.   +8 more
europepmc   +1 more source

Polycythaemic panmyelosis in chronic myeloid leukaemia

British Journal of Haematology, EarlyView.
George Mason, Ameya Hanamshet, Sewon Kim, Nisha Singh, Kirsten McIlroy, Matthew Greenwood   +5 more
wiley   +1 more source

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq. [PDF]

BMC Pregnancy Childbirth
Chang J, Li M, Jiang Y, Zhou X, Hao N, Yu Y, Lü Y, Qi Q.   +7 more
europepmc   +1 more source

Flow karyotyping [PDF]

Cytometry, 1993
openaire   +1 more source

Diagnosing Systemic Mastocytosis: State of the Art

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state‐of‐the‐art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification ...
Anton Rets, Tracy I. George
wiley   +1 more source

Characterization of cytogenetic abnormalities in Lebanese multiple myeloma patients. [PDF]

BMC Cancer
Najem G, Kharsa C, Kourie HR, Kattan J, Nasr F, El Karak F, Wakim J, Ghosn M, Chahine G, Hanna C, El Ferkh R, Farra C, Chebly A.   +12 more
europepmc   +1 more source

New insights into the putative XX/XY sex chromosomal system in blue‐eyed red‐fin pleco Hypostomus soniae (Siluriformes, Loricariidae)

Journal of Fish Biology, EarlyView.
Abstract Blue‐eyed red‐fin pleco Hypostomus soniae (family Loricariidae) presented a putative sex system XX/XY in early stage. Aiming to explore the inter‐populational karyotypic variation and proposed emergence of the XX/XY system, we studied 13 H. soniae individuals (6 males, 7 females) from the Tapajós River.
Luan Aércio Melo Maciel, Renata Coelho Rodrigues Noronha, Bruno Rafael Ribeiro de Almeida, Manoella Gemaque Cavalcante, Cleusa Yoshiko Nagamachi, Julio Cesar Pieczarka, Luís Reginaldo R. Rodrigues   +6 more
wiley   +1 more source

Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Given the rarity and aggressive nature of osteosarcomas (OS) in the oral and maxillofacial region, understanding their molecular alterations is essential to improve diagnosis, prognosis, and guide targeted therapies. This study aimed to map molecular alterations associated with oral and maxillofacial OS, providing an overview of the
Iara Vieira Ferreira, Reydson Alcides de Lima‐Souza, Moisés Willian Aparecido Gonçalves, Carlos Takahiro Chone, Arthur Antolini‐Tavares, Albina Altemani, Fernanda Viviane Mariano   +6 more
wiley   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source