Results 101 to 110 of about 233,721 (401)
Optimization of the indications for allogeneic stem cell transplantation in Acute Myeloid Leukemia based on interactive diagnostic strategies [PDF]
, 2011 The indications for allogeneic stem cell transplantation (SCT) in Acute Myeloid Leukemia (AML) represent a real challenge due to the clinical and genetic heterogeneity of the disorder.
Bacher, Ulrike +5 more
core
An unusual initial presentation of mantle cell lymphoma arising from the lymphoid stroma of warthin tumor. [PDF]
, 2015 BackgroundWarthin tumors presenting concomitantly with a lymphoma is vanishingly rare with only 15 reported cases in English literature. Herein, we report an unusual initial presentation of a mantle cell lymphoma involving the lymphoid stroma of a ...
Arcega, Ramir S +5 more
core +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
Brazilian Journal of BiologyKaryotypic data are presented for two sympatric Corydoras species of the Lagoa Dourada, namely, C. ehrhadti and C. paleatus, which are found in the upper Tibagi river basin (Ponta Grossa, State of Paraná, Brazil).
R. F. Artoni +5 more
doaj +1 more source
Induction of chromosome damage by ultraviolet light and caffeine: Correlation of cytogenetic evaluation and flow karyotype [PDF]
, 1982 Asynchrononously growing cells of a M3-1 Chinese hamster line were ultraviolet (UV) irradiated ( = 254 nm) with UV fluences up to 7.5 J/m2. After irradiation, cells were incubated with or without 2 mM caffeine for 20 hr, then mitotic cells were selected ...
Carrano +20 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
A family case of fertile human 45,X,psu dic(15;Y) males [PDF]
, 2006 We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M +29 more
core +1 more source
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon +20 more
wiley +1 more source
The Application of Clinical Genetics, 2021 Ralph S Papas,1 William H Kutteh2,3 1Department of Obstetrics and Gynecology, Saint George Hospital - University Medical Center, Beirut, Lebanon; 2Department of Obstetrics and Gynecology, Baptist Memorial Hospital, Memphis, TN, USA; 3Recurrent Pregnancy ...
Papas RS, Kutteh WH
doaj
Nature Communications, 2014 Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223.
Virpi Ahola +46 more
semanticscholar +1 more source