Results 181 to 190 of about 147,278 (285)

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor, Oishee Bandyopadhyay, Nahian Ahmed, Kapishan Shanmugathasan, Alice Cotton, ChingHao Chen, Tet Yap   +6 more
wiley   +1 more source

Triple-negative primary myelofibrosis: a comparative analysis of phenotype, genotype, and outcome. [PDF]

Blood Cancer J
Bashir YA, Abdelrheem AA, Abdelmagid M, Reichard KK, He R, Zepeda Mendoza CJ, Pardanani A, Gangat N, Tefferi A.   +8 more
europepmc   +1 more source

Contact Activation Is Alleviated by Testosterone Replacement Therapy in Klinefelter Syndrome: Evidence of Hormonal and Metabolic Modulation

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome is associated with a markedly increased risk of venous thrombosis. While hypogonadism and metabolic dysfunction are known contributors, the role of the contact activation system in Klinefelter syndrome remains unexplored.
Simon Chang, Claus H. Gravholt, Anne Skakkebæk, Anna‐Marie Bloch Münster, Yaseelan Palarasah   +4 more
wiley   +1 more source

Detection of residual host cells after bone marrow transplantation using non-isotopic in situ hybridization [PDF]

, 1993
Cremer, Thomas, Knuutila, Sakari, Popp, Susanne, Ruutu, Tapani, Volin, L., Wessman, M.   +5 more
core  

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report. [PDF]

Front Med (Lausanne)
Deng G, Liu W, Lai Y, Pan J, Chen Y, Song J, Zhang D, Liang X, Ning S, Lu Y, Liang Y, Li D.   +11 more
europepmc   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria. [PDF]

Prenat Diagn
Schieffer L, Garel C, Guibaud L, Rougeot-Jung C, Burglen L, Massoud M, Ville D, Blondiaux E, Jouannic JM, Cabet S, DesPortes V, Valence S.   +11 more
europepmc   +1 more source

ALFA-K: Local adaptive mapping of karyotype fitness landscapes. [PDF]

Nat Commun
Beck RJ, Li T, Andor N.
europepmc   +1 more source

Short and complex—Telomeres and genomes in CLL

British Journal of Haematology, EarlyView.
Chronic lymphocytic leukaemia (CLL) with complex karyotype (CK) represents a high‐risk subgroup, often associated with refractory disease. In a patient cohort enriched for CK CLL, short telomeres were found to be associated with poor‐risk characteristics such as unmutated immunoglobulin heavy chain variable region (IGHV), del(11q)/del(17p), CK/genomic ...
Billy Michael Chelliah Jebaraj, Stephan Stilgenbauer   +1 more
wiley   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +1 more source