Results 181 to 190 of about 44,278 (289)

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]

Clin Case Rep
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc   +1 more source

Prolonged P-R interval in a male with 47,XYY karyotype. [PDF]

, 1979
Shinichiro Nanko, J Miyawaki
openalex   +1 more source

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

Telomere aggregates in amniocytes with karyotype of balanced chromosomal rearrangements

, 2010
Tali Amiel, Reuven Sharony, Lilach Goldberg-Bittman, Tal Biron‐Shental, Moshe Fejgin, Aliza Amiel   +5 more
openalex   +1 more source

Efficacy of ciclosporin monotherapy in non‐severe aplastic anaemia not requiring transfusions: Results from a multicentre phase II study

British Journal of Haematology, EarlyView.
Summary The efficacy of ciclosporin (CsA) to treat transfusion‐independent non‐severe aplastic anaemia (TI‐NSAA) has not yet been systematically evaluated. We conducted a prospective trial in patients with TI‐NSAA treated with CsA monotherapy. CsA (3.5 mg/kg/day) was administered to patients with TI‐NSAA aged ≥16.
Ken Ishiyama, Masahide Yamazaki, Hiroyuki Maruyama, Naoko Hosono, Hiroki Yamaguchi, Noboru Asada, Kazuki Tanimoto, Hiroyuki Sugiura, Kensuke Usuki, Kenichi Yoshimura, Seishi Ogawa, Yuzuru Kanakura, Itaru Matsumura, Koichi Akashi, Shinji Nakao   +14 more
wiley   +1 more source

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification. [PDF]

Diagnostics (Basel)
Bakır A, Alay MT, Tekbaş UC, Sucu S, Kalay İ, Saat H.   +5 more
europepmc   +1 more source

THE CHROMOSOMES OF ASCAPHUS TRUEI AND THE EVOLUTION OF THE ANURAN KARYOTYPES

, 2010
TORSTEN WICKBOM
openalex   +1 more source

Chromosomal Abnormalities in Recurrent Pregnancy Loss at a Tertiary Care Center. [PDF]

Cureus
Sinha MB, Thakur P, Verma R.
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

Artificial intelligence for risk assessment and outcome prediction in malignant haematology

British Journal of Haematology, EarlyView.
Machine learning models allow for dynamic and scalable risk stratification and outcome prediction. Different modalities of data such as electronic health records, patient genetics or laboratory results can be used as input. ML models autonomously select features weighing their prognostic value. Methods of model explainability in feature selection allow
Jan‐Niklas Eckardt, Wencke Walter, Jan Moritz Middeke, Torsten Haferlach   +3 more
wiley   +1 more source