Results 91 to 100 of about 15,433 (199)

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, EarlyView.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism. [PDF]

Semin Immunopathol
Bergmann L, Afflerbach AK, Yuan T, Pantel K, Smit DJ.   +4 more
europepmc   +1 more source

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

An Unusual Case of a Monorchid Horse with an Abdominally Retained Testicle.

Sex Dev
Sinovich M, Monné Rodriguez J, Pieńkowska-Schelling A, Schelling C, Kelly PG.   +4 more
europepmc   +1 more source

Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH. [PDF]

Mol Cytogenet
Ismail A, Ahid F, Moi WN, Kamaluddin NR, Esa E, Yusoff YM, Seman ZA, Mohammed MA, George E, Isa A, Zakaria Z.   +10 more
europepmc   +1 more source

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants

Andrology, EarlyView.
Abstract Background Small RNAs interacting with PIWI (piRNAs) play a crucial role in regulating transposable elements and translation during spermatogenesis and are essential in male germ cell development. Disruptions in the piRNA pathway typically lead to severe spermatogenic defects and thus male infertility. The HENMT1 gene is a key player in piRNAs
Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Caroline Cazin, Jean‐Pascal Hograindleur, Marie Bidart, Emeline Fontaine, Pauline Plouvier, Florence Puch, Véronique Satre, Christophe Arnoult, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry‑Mieg, Pierre F. Ray, Zine‑Eddine Kherraf, Charles Coutton, Guillaume Martinez   +17 more
wiley   +1 more source

Automated system for establishing standard radiation dose-response curves and dose estimation for the Korean population. [PDF]

Sci Rep
Oh SJ, Jeong MH, Kang YR, Lee CG, Kim H, Kye YU, Park MT, Baek JH, Kim JK, Kim JS, Jeong SK, Jo WS.   +11 more
europepmc   +1 more source

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, EarlyView.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.

J Indian Assoc Pediatr Surg
Pandey H, Sharma J, Kumar S, Mohan N, Jain V, Dhua AK, Yadav DK, Dubey AK, Choudhury P, Goel P.   +9 more
europepmc   +1 more source

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma. [PDF]

Blood Adv
Geng H, Mo S, Chen L, Ballapuram A, Tsang M, Lu M, Rauschecker AM, Wen KW, Devine WP, Solomon DA, Rubenstein JL.   +10 more
europepmc   +1 more source