Results 191 to 200 of about 124,374 (336)

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

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

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

Largest genome assembly in Brassicaceae: retrotransposon-driven genome expansion and karyotype evolution in Matthiola incana

Taihua Yang, Chen Daozong
openalex   +1 more source

Limited diagnostic value of lymphocytic karyotype in primary amenorrhea with streak gonads

, 1987
N Surico, Michele Messina, G. Ponzio, Enrico Libanori, Francamaria Chiodo, Paola Milani, Emilia Folpini   +6 more
openalex   +1 more source

Comorbidities and mutations including single‐ and multihit TET2 mutations in relation to outcome in chronic myelomonocytic leukaemia—A population‐based study

British Journal of Haematology, EarlyView.
In a population‐based cohort of 149 chronic myelomonocytic leukaemia (CMML) patients, multihit TET2 mutation was associated with older age, lower LDH and less leucocytosis. We found no association with autoimmune disease or thrombosis. Patients with multihit TET2 mutation had a significantly longer overall survival than the patients without or with one
Matilda Kjellander Kynning, Ebba Westerberg, Linda Forsell, Maria Creignou, Daniel Moreno Berggren, Bianca Tesi, Elsa Bernard, Elli Papaemmanuil, Yasuhito Nannya, Lucia Cavelier Franco, Davide Valentini, Eva Hellström Lindberg, Seishi Ogawa, Elisabeth Ejerblad, Johanna Ungerstedt   +14 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

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

Tissue Cytogenetic Determinations of “Normal 46,XX” Karyotypes in Spontaneous Abortions May Frequently Be Misleading

, 1997
K Bell
openalex   +1 more source

Human selection maintains karyotype integrity of highly unstable genomic cultivated autotetraploid potato (<i>Solanum tuberosum</i>). [PDF]

Sci Adv
Yang L, Bai Y, Chao G, Zhao K, Xu J, Sun M, Zhang H, Niu Y, Li K, Xiong Z, Cao Y, Wang F, Hai B, Cao C, Yin Y, Lin T, Wang Y, Gong X, Wu L, Jiang J, Xiong Z.   +20 more
europepmc   +1 more source