Results 191 to 200 of about 108,883 (296)

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Multi-dimensional identification and quality evaluation of <i>Paris polyphylla</i> cultivated populations using morphological, molecular, cytological and metabolic traits. [PDF]

Front Plant Sci
Jiang J, Qin Y, Yu Z, Chen J, Wang J, Yang S, Liu Y, Liu T.   +7 more
europepmc   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review. [PDF]

Front Genet
Alhajlah S.
europepmc   +1 more source

Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report. [PDF]

Hum Genomics
Hara S, Sato T, Shimokawa O, Pooh R, Watanabe Y, Kubiura-Ichimaru M, Soejima H.   +6 more
europepmc   +1 more source

Treatment sequence with gilteritinib and allogeneic haematopoietic stem cell transplantation in relapsed/refractory FMS‐like tyrosine kinase 3 (FLT3)‐mutated acute myeloid leukaemia patients: A multicentre real‐world study

British Journal of Haematology, EarlyView.
Summary Patients with relapsed or refractory acute myeloid leukaemia (r/r AML) harbouring FMS‐like tyrosine kinase 3 (FLT3) mutations generally have poor prognosis and limited treatment options. The second‐generation FLT3 inhibitor gilteritinib provides better disease control compared to standard relapse therapies and was approved based on two ...
Desiree Kunadt, Sven Zukunft, Christoph Röllig, Stephan Metzelder, Andreas Burchert, Eva Wagner‐Drouet, Oliver Kriege, Christoph Schliemann, Matthias Stelljes, Julian Ronnacker, Wolfgang Bethge, Jan Frederic Weller, Björn Steffen, Gesine Bug, Khouloud Kouidri, Claudia Baldus, Lars Fransecky, Elisa Sala, Uwe Platzbecker, Klaus Metzeler, Sabine Kayser, Inken Hilgendorf, Andreas Hochhaus, Tim H. Brümmendorf, Edgar Jost, Anna Dorottya Doleschall, Thomas Schroeder, Jennifer Kaivers, Lambros Kordelas, Udo Holtick, Julia M. Unglaub, Tim Sauer, Paul Sebastian Jäger, Guido Kobbe, Elena Stauffer, Johanna Tischer, Tobias Herold, Normann Steiner, David Nachbaur, Nicolaus Kröger, Jochen J. Frietsch, Sabrina Kraus, Hermann Einsele, Mathias Hänel, Judith Schaffrath, William Krüger, Anne Brandenburg, Tobias A. W. Holderried, Laura Reinhardt, Markus Maulhardt, Christian Thiede, Martin Bornhäuser, Johannes Schetelig, Jan M. Middeke, Friedrich Stölzel, for the German Cooperative Transplant Study Group and Study Alliance Leukemia (SAL)   +55 more
wiley   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Minimal residual disease–guided ibrutinib and venetoclax in patients with chronic lymphocytic leukaemia and complex karyotype

British Journal of Haematology, EarlyView.
Minimal residual disease (MRD)–guided ibrutinib and venetoclax (IVen) achieved durable remissions and high undetectable MRD (uMRD) rates in patients with high‐risk chronic lymphocytic leukaemia (CLL). Compared with historical ibrutinib monotherapy, IVen was associated with improved progression‐free and overall survival despite presence of complex ...
Maria Kislova, Elena Dmitrieva, Elena Naumova, Margarita Pochtar, Svetlana Lugovskaya, Yury Kobzev, Alla Loban, Maria Gladysheva, Tatiana Obukhova, Bella Biderman, Andrey Sudarikov, Egor Volchkov, Maria Ivanova, Vadim Ptushkin, Andrea Visentin, Eugene Nikitin   +15 more
wiley   +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

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source