Results 211 to 220 of about 164,447 (333)

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study. [PDF]

Orphanet J Rare Dis
Hu F, Wang Y, Chen Y, Xu X, Ding Y, Ying L, Zhang Q, Wang L, Zhang Y, Chen L, Wang X.   +10 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

Single sperm karyotyping of testicular sperm in non-obstructive and obstructive azoospermia using next generation sequencing. [PDF]

PLoS One
Sueyoshi S, Ijuin A, Ueno H, Miyakoshi A, Hamada H, Toda M, Tsuchiya N, Tanoshima M, Kurumizaka M, Saito M, Oike Y, Takeshima K, Takeshima T, Kuroda S, Yumura Y, Saito S, Asano R, Mizushima T, Miyagi E, Sakakibara H, Kurahashi H, Yanagihara A, Murase M, Hayama T.   +23 more
europepmc   +1 more source

Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR. [PDF]

BMC Genomics
Zheng T, Cheng D, Yang Y, Lu S, Li H, Xie L, Li Q, Ye H.   +7 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

Characterization of chromosome 5 aberrations in TP53 mutated myeloid neoplasms with ≥5% blasts: An International TP53 Investigators Network (iTiN) study. [PDF]

Cancer
Yasin I, Stengel A, Shao H, Kaur A, Mason EF, Patwardhan PP, Bailey NG, Ghosh S, Inamdar KV, Patel AA, Pandiri M, Zhang J, Sojitra P, Tariq H, Pan Z, Wiredja D, Wang P, Tjota MY, Segal JP, Chang H, Sallman DA, Arber DA, Tefferi A, Badar T, Perry AM, Haferlach C, Lager AM, Venkataraman G.   +27 more
europepmc   +1 more source

Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review

British Journal of Haematology, EarlyView.
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Fieke W. Hoff, Roochi Trikha, Emma M. Groarke, Bhavisha A. Patel   +3 more
wiley   +1 more source