Results 161 to 170 of about 29,641 (255)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Discordant Gender Identity and Surgical Goals in Two Adults with Comparable Ambiguous Genitalia: Two Case Reports from a Resource-Limited Setting. [PDF]

Cureus
Ainomugisha B, Kajabwangu R, Byamukama O, Kato KP, Geissbuhler V, Kayondo M.   +5 more
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period. [PDF]

Arch Gynecol Obstet
Feodorovici K, Klinkhammer H, Strizek B, Gembruch U, Geipel A.   +4 more
europepmc   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

Recent advances in the detection technologies for balanced chromosomal rearrangements. [PDF]

Front Genet
Gao M, Ren J, Liu S.
europepmc   +1 more source

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure. [PDF]

F S Rep
Tjagur S, Punab M, Dutta A, Laan M.
europepmc   +1 more source

Early venetoclax dose escalation at minimal residual disease progression may benefit selected acute myeloid leukaemia patients

British Journal of Haematology, EarlyView.
Sari Kytölä, Anu Partanen, Milla E. L. Kuusisto, Sirpa Koskela, Annasofia Holopainen, Ida Vänttinen, Tanja Ruokoranta, Pia Ettala, Johanna Rimpiläinen, Timo Siitonen, Marja Pyörälä, Heikki Kuusanmäki, Mika Kontro   +12 more
wiley   +1 more source

To Treat or Not to Treat: Navigating Early‐Stage CLL in the Era of Targeted Therapy

European Journal of Haematology, EarlyView.
ABSTRACT Chronic lymphocytic leukemia (CLL) is most frequently diagnosed at early, asymptomatic stages (Rai 0/Binet A), in which a watch‐and‐wait strategy remains the standard of care, based on historical trials demonstrating no overall survival benefit from early treatment.
Enrica Antonia Martino, Santino Caserta, Ernesto Vigna, Giovanna Cutrona, Antonella Bruzzese, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Nicola Amodio, Franco Fais, Antonino Neri, Manlio Ferrarini, Valter Gattei, Fortunato Morabito, Massimo Gentile   +16 more
wiley   +1 more source