Results 211 to 220 of about 37,774 (292)

The fetal phenotype is a trajectory, not a snapshot

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
The evolving fetal phenotype. Serial prenatal ultrasound may reveal emerging or changing fetal features that inform reassessment of genetic findings. Reporting the timing of observations, changes in the fetal phenotype and any subsequent revision of variant interpretation helps clarify the contribution of longitudinal imaging to prenatal diagnosis ...
Florian Recker, Adeline Walter, Ulrich Gembruch   +2 more
wiley   +1 more source

Clinical Utility of Whole RNA Sequencing for Fusion Detection in Acute Leukemia. [PDF]

Cells
Kim N, Park YJ, Min YK, Lim S, Choi YJ, Lee ST, Choi JR, Kim H, Shin S.   +8 more
europepmc   +1 more source

Distinct clinical and genetic characteristics of myelodysplastic syndrome in younger patients

British Journal of Haematology, EarlyView.
Summary Myelodysplastic neoplasms (formerly myelodysplastic syndromes, MDS) are heterogeneous clonal haematological malignancies that primarily affect the elderly, though a notable proportion of patients are diagnosed at younger ages. We retrospectively analysed 1437 patients diagnosed or treated at Asan Medical Center between 1989 and 2022, comparing ...
Hyunkyung Park, Eun‐Ji Choi, Young‐Uk Cho, Yunsuk Choi, Han‐Seung Park, Jung‐Hee Lee, Joon Young Hur, Jisu Jeong, Seungah Cha, Yueun Lee, Young‐Shin Lee, Young‐Ah Kang, Mijin Jeon, Ji Min Woo, Hyeran Kang, Je‐Hwan Lee   +15 more
wiley   +1 more source

Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study. [PDF]

In Vivo
Kouvidi E, Grigoriadou M, Leiletzoglou E, Kolialexi A.   +3 more
europepmc   +1 more source

Predicted microbiome‐associated metabolic pathways are linked to immune checkpoint modulation in chronic lymphocytic leukaemia

British Journal of Haematology, EarlyView.
Summary Microbial metabolites are key regulators of host immunity, yet their functional impact in chronic lymphocytic leukaemia (CLL) remains unclear. Following up on our earlier observations of microbiome dysbiosis in CLL, we performed predictive metabolic profiling based on 16S ribosomal RNA (rRNA) sequencing of oral and stool samples collected from ...
Monika Szelest, Joanna Zaleska, Michał Kiełbus, Magdalena Paziewska, Marta Masternak, Ewa Wawrzyniak, Aleksandra Kotkowska, Monika Siemieniuk‐Ryś, Marta Morawska, Elżbieta Kalicińska, Paula Jabłonowska‐Babij, Tomasz Wróbel, Anna Wolska‐Washer, Jerzy Zdzisław Błoński, Tadeusz Robak, Krzysztof Giannopoulos   +15 more
wiley   +1 more source

Mapping the current landscape of Klinefelter Syndrome registries: a scoping review. [PDF]

BMJ Open
Stephenson F, Morris A, Arulkkumaran N, Lorenzo A, Mehta S, Cotton A, Yap T.   +6 more
europepmc   +1 more source

Comparison of venetoclax and azacitidine versus a cytarabine‐based treatment for patients with acute myeloid leukaemia in first relapse after chemotherapy. A real‐world study of the DATAML‐IPC‐AURAML consortium

British Journal of Haematology, EarlyView.
Summary Complete remission (CR) rates for patients with acute myeloid leukaemia (AML) treated with intensive chemotherapy (IC) have increasingly improved. Yet, relapse remains a concern with a dismal prognosis. In this report, results are presented of a retrospective analysis comparing salvage therapy based on intermediate (I) or high (H)‐dose ...
Pierre‐Yves Dumas, Sarah Bertoli, Emilie Bérard, Clémence Santana, Maël Heiblig, Thibaut Leguay, Suzanne Tavitian, Estelle Borgne, Anne‐Charlotte de Grande, Audrey Sarry, Ziyad Acheaibi, Laetitia Largeaud, Morgane Sighieri, Emilie Klein, Emmanuelle Tavernier, Marie‐Anne Hospital, Martin Carré, Gaspar Aspas Requena, Anne Banos, Norbert Vey, Arnaud Pigneux, Christian Récher, Sylvain Garciaz   +22 more
wiley   +1 more source

Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study. [PDF]

BMC Pregnancy Childbirth
Wang W, Zhang Y, Zhou L, Chen W, Zhang F, Yu B, Zhang B.   +6 more
europepmc   +1 more source

Reduced‐dose versus standard‐dose total body irradiation before allogeneic haematopoietic stem cell transplantation in adults with acute lymphoblastic leukaemia

British Journal of Haematology, EarlyView.
Summary Comparative data on reduced‐dose (8 Gy) versus standard‐dose (12 Gy) total body irradiation (TBI) before allogeneic haematopoietic stem cell transplantation (allo‐HSCT) for adults with acute lymphoblastic leukaemia (ALL) remain limited. We retrospectively analysed 101 adults undergoing first allo‐HSCT between 1999 and 2024 after 8 Gy or 12 Gy ...
Isabella Gruber, Matthias Edinger, Hendrik Poeck, Elisabeth Meedt, Ernst Holler, Wolfgang Herr, Oliver Koelbl, Daniel Wolff   +7 more
wiley   +1 more source

Recurrent Pregnancy Loss: A Couple-Based Framework for Integrating Paternal Assessment. [PDF]

Biomedicines
Kritsotaki N, Diamantidis D, Koutlaki N, Machairiotis N, Tsikouras P.   +4 more
europepmc   +1 more source